SMIM19, also known as Small Integral Membrane Protein 19, encodes the SMIM19 protein.[5] SMIM19 is a confirmed single-pass transmembrane protein passing from outside to inside, 5' to 3' respectively.[5][6] SMIM19 has ubiquitously high to medium expression with among varied tissues or organs.[7][8] The validated function of SMIM19 remains under review because of on sub-cellular localization uncertainty.[9] However, all linked proteins research to interact with SMIM19 are associated with the endoplasmic reticulum (ER), presuming SMIM19 ER association[10]

SMIM19
Identifiers
AliasesSMIM19, C8orf40, small integral membrane protein 19
External IDsMGI: 2142501; HomoloGene: 26703; GeneCards: SMIM19; OMA:SMIM19 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001135674
NM_001135675
NM_001135676
NM_138436
NM_001363186

NM_001012667
NM_001146117

RefSeq (protein)

NP_001129146
NP_001129147
NP_001129148
NP_612445
NP_001350115

NP_001012685
NP_001139589

Location (UCSC)Chr 8: 42.54 – 42.56 MbChr 8: 22.95 – 22.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

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SMIM19 is also commonly known and referenced as C8orf40 (chromosome 8 open reading frame 40).[5] SMIM19 also has a few other lesser known names, such as LOC114926, Doyzeeby, and Beeveybu.[11] The SMIM19 gene is located on the plus strand at 8p11.21 in humans.[11] The SMIM19 gene is composed of 4 total exons and spanning 14.04 kb from 42,541,155 bp to 42,555,193 bp.[5][12] The upstream neighboring gene to SMIM19 is SLC20A2.[5]

Transcripts

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Variants

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There are four validate transcript variants for SMIM19 that all encode the same protein, as they only differ in sequence within the 5' UTR.[5] Transcript variant 1 represents the longest transcript[5]

Transcript Variants of SMIM19[5]
Transcript Variant RefSeq Accession Length Description Number of Exons
Transcript Variant 1 NM_001135674.2 3704 bp Ecodes Isoform 1 4
Transcript Variant 2 NM_001135675.2 3486 bp Ecodes Isoform 1; Lacks portion of 5' UTR 4
Transcript Variant 3 NM_138436.4 3036 bp Ecodes Isoform 1; Lacks portion of 5' UTR 4
Transcript Variant 4 NM_001135676.2 2967 bp Ecodes Isoform 1; Lacks portion of 5' UTR 4
 
SMIM19 Transcript Variants 1–4, retrieved from AceView.[11]

Features

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The SMIM19 mRNA is composed of one major polyadenylation sequence and site combination and three alternative ones, along with an upstream in-frame stop codon.[12] Not all variants contain the upstream in-frame stop codon as it is present in the portion of the 5' UTR that varies. The polyadenylation sequences and site are consistent among all transcript variants.

Protein

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Isoforms

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There is only one validated SMIM19 protein isoform that is encoded by all four transcript variants. It is 107 amino acids long with a molecular weight of 12.44 kDa.[5][13][14] The isoelectric point varies among SMIM19 organism and shows a pattern based on taxonomical group, likely due to post-modification variations between taxonomical group[13]

Isoelectric Point Taxonomical Pattern[13]
Organism Taxonomical Group Isoelectric Point (pH)
Homo sapiens Mammal 5.3
Mus Musculus Mammal 5.62
Danio rerio Fish 5.78
Xenopus tropicalis Amphibian 6.08
Trachemys scripta elegans Reptile 7.97
Gopherus evgoodei Reptile 7.97
Gallus gallus Bird 9.34
Taeniopygia guttata Bird 9

Amino Acid Composition

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The SMIM19 protein contains a validated transmembrane region.[14] There is no indication that SMIM19 is rich or poor in any amino acid; no amino acid or combination of amino acids were outside of the standard deviation in relation to abundance.[14] There was no significance detected with the spacing of cysteines as SMIM19 contains none.[14] Similarly, there were no repetitive structures i.e., separated, tandem or periodic repeats, found in SMIM19 protein sequence[14]

Transmembrane/ Hydrophobic Region

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TMpred graphic output for SMIM19 Homo sapiens protein sequence.[6]

The SMIM19 protein contains a transmembrane region, which is also considered a hydrophobic region that spans 19 amino acids.[14] The right a TMpred output predicted orientation analysis of the SMIM19 protein demonstrates that the protein is likely oriented outside to inside, which was used to structure the TOPO2 diagram.[6][15]

 
SMIM19 Transmembrane Domain Display, retrieved from TOPO2[15]

Positive Amino Acid Run

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Consistent with the majority of SMIM19 homologs, there is a positive amino acid run almost immediately following the transmembrane region: KRR (Lysine, Arginine, Arginine).[14]

Motifs

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There were four matches for motifs with the SMIM19 sequence that are predicted to be significant. Casein kinase 2 can play a role in cell cycle regulation, DNA repair, and necessary for cell survival; down-regulation of Casein kinase 2 can promote tumorigenesis. Protein kinase C is a protein-regulator and is highly involved in various signaling cascades. Dendritic Cells- Specific Transmembrane Protein (DC-STAMP) is a seven- pass transmembrane protein specifically found in dendritic cells, often associated with immunological functions.[16] Based on Eukaryotic Linear Motif predictions, there are strong sequence matches for cleavage site motifs following the transmembrane region, which also remain consistent among orthologs[17]

 
Eukaryotic Linear Motif SMIM19 predicted cleavage sites[17]
Motif Sequence Matches with SMIM19 Protein[16]
Motif Name Abbreviation Amino Acid Position Amino Acid Sequence
Casein kinase II phosphorylation site CK2_PHOSPHO_SITE 17-20 TVHE
Casein kinase II phosphorylation site CK2_PHOSPHO_SITE 62-65 TVHE
Protein kinase C phosphorylation site PKC_PHOSPHO_SITE 87-89 SRK
DC-STAMP-like protein DC_STAMP 31-54 IVILVSFGLFMYAKRNNKRRIMRIF

Secondary Structure

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Phyre2 predicted SMIM19 protein structure[18]

Based on ALI2D and Phyr2 (diagram pictured) data, it is determined that an alpha helix is likely present at the beginning of the sequence right before the transmembrane sequence with high confidence analysis.[18][19] The transmembrane region structure following this first alpha helix, varies in structure per program used for analysis, so no conclusions could be made.[18][19] The second beta sheet is consistent amongst various programs, and is likely a strong candidate for prediction.[18][19] Following this, the large alpha helix predicted remains fairly consistent through all orthologs with high confidence from both Pyre2 and ALI2D.[18][19] The end beta sheet is consistent between program analyses and predictions but remains in low confidence, so no definitive conclusions could be made.[18][19]

Tertiary Structure

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I-TASSER SMIM19 upstream sequence tertiary prediction[20]
 
I-TASSER SMIM19 downstream sequence tertiary prediction[20]

I-Tasser results of both the SMIM19 upstream and down stream sequence to the transmembrane domain (pictured left and right respectively) were analyzed with iCn3D.[20][21] The SMIM19 protein is analyzed as a whole cause the cytosolic and extracellular sequence flanking the transmembrane domain attempt to coil together, producing a false predicted 3D structure as they should never interact being there is a membrane between them. Therefore, each upstream and downstream sequences was analyzed separately. Within each diagram there is a yellow highlighted section where the transmembrane sequence would meet each respective sequence.[20][21] No strong conclusions can be made about SMIM19 tertiary structure beyond a large alpha helix present in the downstream sequence to the transmembrane region, consistent with Ali2D and Phyr2 results above[18][19][20][21]

Regulation and Expression

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Gene-level Regulation

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Promoter

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The most conserved promoter among SMIM19 orthologs was GXP_9002686 on the positive strand spanning 1962 bp, located between 42,540,128 and 42,542,089. It is also supported by the greatest number of transcripts.[22]

Unique Promoter Results for SMIM19[22]
Promoter ID Size (bp) Start End Strand Number of Transcripts
GXP_9002686 1962 42540128 42542089 + 10
GXP_2059777 1047 42540148 42541194 + 1
GXP_9526567 1040 42542605 42543644 + 0
GXP_9526568 1040 42544248 42545287 + 0
GXP_3212481 1206 42545262 42546467 + 1
GXP_9526569 1040 42547364 42548403 + 0

Transcription factors

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The below selected transcription factors were chosen based on conservation among species first, and then further parsed for high matrix similarity and high number of proposed binding sites with in an extended SMIM19 promoter region. Conservation was highest further that desired from transcription start site.[22]

SMIM19 Transcription Factors[22]
Transcription Factor Description Strand Matrix Similarity Sequence
FKHD Fork head domain factors + 1 caaaaaaAACAaaacaa
FKHD Fork head domain factors + 1 caaaaaaAACAaaacaa
FKHD Fork head domain factors + 0.999 gcccggcAAACaatcag
PIT1 GHF-1 pituitary specific POU domain transcription factor + 0.953 tatataaatACATataaat
HOMF Homeodomain transcription factor + 0.995 gtgagttTAATtgtaacag
CART Cart-1 (catrilage homeoprotein 1) + 0.995 gagttTAATtgtaacagatga
HBOX Homeobx transcription factors + 0.944 gacttatAATTaccagtca
DLXF Disral-less homeodomain transcription factors - 0.989 gctgactggtAATTataag
HOXF Paralog hox genes 1-8 from the four hox clusters A, B, C, D + 0.985 acttctaATTAccagtcag
LHXF Lim homeodomain factors - 0.979 tatacatttTGATtaagttctct
CAAT CCAAT binding factors + 0.926 ccagCCACtgacatc
OTC1 Octamer binding protein + 0.992 cctATGCaaattcat
BRNF Bm Pou domain factors - 0.982 cttgacctaagTAATgaat
CART Cart-1 (catrilage homeoprotein 1) - 0.995 ttattTAATtgtgtagtgact
ARID AT rich interactive domain factor + 0.985 taaaAATAcccaaaagggact
FKHD Fork head domain factors + 1 ttttgaaAACActacgg
NR2F Nuclear receptor subfamily 2 factors + 0.904 cctggtgggaCAATgtacacgaccc
NKXH Nkx homeodomain factors + 0.986 cagcgTGAGtgbccccgcg
MYBL Cellular and Viral myb-like transcriptional regulators - 0.957 gggccgccgCAACtggcccgt
ETSF Human and murine ETS1 factors - 0.991 ctctcccaGGAAgcagcccgg
 
Human Protein Atlas SMIM19 RNA Expression Overview[8]

Expression Patterns

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According to RNA-seq data from Human Protein Atlas, SMIM19 has ubiquitously medium to high expression in all tissues with low specificity.[8] Comparatively, there is higher expression in liver, muscle, some glandular tissue, and various immune cells.[8] Expression in the brain is comparatively consistently lower.[8]

 
ChIP data for SMIM19 in Mus musculus[7]

Chromatin Immunoprecipitation (ChIP) data for SMIM19 in mice even more confidently display ubiquitously medium to high expression in tissue; No tissue seems to fall below the 50 percentile rank for expression. Muscle tissue has high expression in mice as well. Adipose tissue and diaphragm tissue uniquely are high in expression comparatively. in situ hybridization data of SMIM19 expression in sagittal sectioning of whole embryos produced no definitive conclusions. No significantly abnormal cellular expression were observed.  SMIM19 appears to be uniformly expressed.

 
Genepaint full mouse embryo ISH[23]

Transcript-level Regulation

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miRNA binding sites

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Hsa-miR-1206 and hsa-miR-433-3p were both highly ranked microRNAs in reference to predicted sequence matching with SMIM19 transcript. Each position and predicted sequence pairing is displayed in the image below.

 
Target Scan MicroRNA Matches

mRNA-binding proteins

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The tables below represent the most significant RNA-binding proteins based on relevancy and match score to the SMIM19 5’ UTR and 3’ UTR. Selection was not based on conserved sequence observed between orthologs being there is little conservation of the SMIM19 5’ and 3’ UTR outside of mammals.

SMIM19 5' UTR Selected RNA-binding Protein Predictions[24]
RBP Name Full Name Score Relative Score Transcript Position Matching Sequence Summary
SFRS1 splicing factor, arginine/serine-rich 1 10.87 100% 413-419 ACGCGCA Protein can activate or repress splicing; regulator of splicing
FUS fused in sarcoma 7.37 100% 771-774 GGUG Part of a complex involved on pre-mRNA splicing and export of mRNA to the cytoplasm
EIF4B eukaryotic translation factor 4B 8.05 88% 431-437 GCGGAAA Protein required for binding og mRNA to ribosomes
sap-49 spliceosome associated protein 7.56 86% 120-125 GCGUGA Involved in various pre-mRNA splicing complexes
ZRANB2 zinc finger, RAN-binding domain containing 2 8.39 81% 27-32 CGGUAA Protein is a splicing factor required for alternative splicing of specific transcripts
SMIM19 3' UTR Selected RNA-binding Protein Predictions[24]
RBP Name Full Name Score Relative Score Transcript Position Matching Sequence Summary
SNRPA small nuclear ribonucleoprotein polypeptide A 11.95 100% 1995-2001 AUUGCAC Associates with a protein to bind 5' splice site of precursor mRNAs; required for splicing
NONO non-POU domain containing, octomer-binding 8.95 100% 1491-1495 AGGGA Plays a role in transcriptional regulation and RNA splicing
PABPC1 poly(A) binding protein, cytoplasmic 1 8.72 100% 1388-1392 AAAAA Protein shuttles between nucleus and cytoplasm and binds 3' poly(A) tail of eukaryotic messenger RNA
RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 8.67 100% 2149-2153 CUCAA Functions as a splicing regulator
a2bp1 Fox-1 homolog A (Ataxin 2-binding protein 1) 8.65 100% 906-910 GCAUG Regulates tissue-specific alternative splicing

Secondary structure

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RNAfold predicted 3' UTR significant stem and loop[25]

Large variation in SMIM19 5' UTR between variants within Homo sapiens and orthologs, makes secondary structure of possible regulation site fairly unreliable.

Relatively consistent 3' UTR produced one conserved stem-loop structure (pictured on right).[25] With such a long SMIM19 3' UTR, a predicted secondary structure is improbable.

Protein-level Regulation

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Sub-cellular Localization

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There is much uncertainty in the SMIM19 sub-cellular localization.

Analyzed as a whole protein, SMIM19 is predicted as type 1b for membrane topology meaning it does not have a cleavable signal sequence but does have a transmembrane segment but not located near the C-terminus. Type 1b proteins favor localization at the ER. With high discrepancy of the localization of SMIM19 between nuclear or cytoplasmic, the Homo sapiens protein with majority ortholog confirmation is predicted to be a cytoplasmic protein.[9]

Being there may be a cleavage site and signal sequence after the transmembrane sequence, SMIM19 analysis of the C-terminus and N-terminus separately produced varying results.[9] The N-terminus is suggested to be located within the cytoplasm and have the same membrane topology as described above.[9] The C-terminus is shown to have a mitochondrial targeting sequence and predicted to localize at the mitochondria[9]

Post-translational Modifications

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High scoring values with low p-values provide confidence in the prediction of interactions to both the phosphorylation site and SUMO Interaction site with SMIM19. A SUMO interaction matched with a short sequence within the SMIM19 transmembrane region, likely meaning it is involved in the degradation process of the protein as that would likely be the only time SMIM19 is removed from the membrane resulting in the sit being exposed.

With high confidence via Myristolator, it is predicted that SMIM19 is created and cut to reveal the 4th glycine as the n-terminal glycine.[26] This was determined with a 24 positive to 1 negative average response to neural networks with a confidence level of 0.855 where high is greater than 0.85 and less than 1.[26] As the first three glycine predicted non-myristylation 0:25, positive: negative respectfully.[26] This adds to the conclusion that SMIM19 protein is membrane associated.

SMIM19 Post-Translational Modification Predications
Post-Modification Type Amino Acid Position Peptide Score P-value
SUMO Interaction 30-34 LIVIL 51.39 0.017
Sumoylation Nonconcensus 89 K 5.8 0.052
Phosphorylation Site 13 S 40.04 N/A

Homology and Evolution

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Paralogs

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There are no paralogs of SMIM19 currently present in the human genome.

Orthologs

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The oldest known ancestors of SMIM19 are invertebrates; invertebrates are the most distant homologs of SMIM19 detectable. No homologs of SMIM19 were evolutionarily found past Invertebrates; the gene is not found in plants, bacteria, etc. The gene is also not present in the Insecta class, within the invertebrates.

Selected SMIM19 Orthologs
Genus species Common Name Taxonomical Group Accession # Date of Divergence from Human Lineage (MYA) Sequence Length (amino acids) Sequence Identity to Human Protein Sequence Similarity to Human Protein
Homo sapiens Human Mammalia NP_001129147 N/A 107 100% 100%
Mus musculus House Mouse Mammalia NP_001012685 90 112 82% 90%
Gopherus evgoodei Goode's Thronscrub Tortoise Reptilia XP_030421196 312 115 65% 77%
Gallus gallus Chicken Aves NP_001183985 312 118 59% 75%
Taeniopygia guttata Zebra Finch Aves XP_030127447 312 122 59% 72%
Trachemys scripta elegans Red-Eared Slider Reptilia XP_034628522 318 108 69% 82%
Xenopus tropicalis Western Clawed Frog Amphibia NP_001016254 351.8 101 72% 86%
Rhinatrema bivittatum Two-Lined Caecilian Amphibia XP_029432756 351.8 99 65% 78%
Danio rerio Zebrafish Actinopterygii NP_001020706 435 104 70% 88%
Betta splendens Siamese Fighting Fish Actinopterygii XP_029020899 435 114 64% 82%
Sphaeramia orbicularis Orbiculate Cardnalfish Actinopterygii XP_030001408 435 117 60% 79%
Callorhinchus milii Australian Ghostshark Chondrichthyes XP_007905737 473 98 62% 76%
Amblyraja radiata Thorny Skate Chondrichthyes XP_032876338 473 108 56% 74%
Petromyzon marinus Sea Lamprey Hyperoartia XP_032806823 615 101 48% 64%
Strongylocentrotus purpuratus Purple Sea Urchin Echinoidea XP_030841965 684 105 36% 58%
Anneissia japonica Feather Star Crinoidea XP_033119401 684 100 32% 55%
Acanthaster planci Crown-of-Thorns Starfish Asteroidea XP_022098243 684 107 32% 52%
Branchiostoma floridae Florida Lancelet Leptocardii XP_035671756 684 118 34% 52%
Asterias rubens Common Starfish Asteroidea XP_033633586 684 106 31% 50%
Saccoglossus kowalevskii Acorn Worm; Hemichordate Enteropneusta XP_002733905 684 95 31% 50%

Evolutionary context

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Unrooted Phylogenetic Tree

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Phylogenetic tree from diverse set of selected homologs of SMIM19
 
SMIM19 Gene Rate of Evolution

Rate of Evolution

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SMIM19 has a comparatively fast evolution rate, estimated to be about 7 amino acid changes per 100 residues per one million years.

Interacting Proteins

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SMIM19 Interacting Proteins[10]
Linked Protein Protein Name Possible Function
O43681 ATPase GET3 ATPase required for post-translational delivery of tail-anchored (TA) proteins to the ER.
Q12797-6 Aspartyl/ asparaginyl beta-hydroxylase Based on isoform, either hydroxylates Asp or Asn in EGF domains in some proteins or is a Calcium-sensing protein in the ER plasma membrane junctions.
Q8N5M9 Protein jagunal homolog 1 Endoplasmic reticulum transmembrane protein involved in vesicle transport, but unclear to which part of the process
Q9UHD9 Ubiquilin-2 Involved in regulation of protein degradation pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD).
Q9UMX0 Ubiquilin-1 Involved in regulation of protein degradation pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD).

Function and Clinical Significance

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Although the function of SMIM19 is relatively unclear, there are many links of SMIM19 to a large deletion, up to 9 genes sequentially in chromosome 8, including a seemingly important neighboring gene, SLC20A2, and including SMIM19 to basal ganglia calcification.[27][28][29][30] Genes in this cytogenetic region, including SMIM19 gene, are also prone to down regulation in common breast tumors and cell lines pertaining to breast cancer.[31] There is also evidence of SMIM19 becoming hypomethylated in hepatocellular carcinoma cells that were enriched with cancer stem cells[32]

Mutations

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The SNP results below are based on the output of accession NM_001135674.1 analysis on dbSNP Short Genetic Variation and were selected based on their location in significant portions of the SMIM19 protein.[33] All SNPs chosen are located within the coding sequence. No SNPs were found within the 5’ UTR or 3’ UTR significant portions such as microRNA, so the focus was on the coding sequence. SNPs 1-15 were found as variations of the most conserved amino acids among all orthologs. SNPs 16-2 are found in the transmembrane region of SMIM19.

SMIM19 SELECTED SNPs[33]
# SNP mRNA Position Type of Mutation Change Code
1 rs754352830 813 Synonymous H19H
2 rs376759514 833 Missense T26I
3 rs1352601365 835 Missense N27D
4 rs758536154 837 Missense N27K
5 rs758536154 837 Synonymous N27N
6 rs780265959 843 Synonymous Y29Y
7 rs745588341 881 Missense Y42C
8 rs1254153666 906 Missense I50M
9 rs369873306 912 Missense R52S
10 rs1373469583 927 Synonymous P57P
11 rs766437116 979 Frameshift R76S
12 rs1295665189 986 Nonsense L77--
13 rs920920699 990 Synonymous R78R
14 rs140337330 996 Synonymous Q80Q
15 rs1301639242 1018 Missense R88G
16 rs751641872 853 Missense I33F
17 rs1232858855 854 Frameshift I33T
18 rs1168830076 855 Synonymous I33I
19 rs749199760 877 Missense M41L
20 rs749199760 877 Missense M41V
21 rs778565419 879 Missense M41I

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176209Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031534Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c d e f g h i "SMIM19 small integral membrane protein 19 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-09-29.
  6. ^ a b c "TMpred Server". embnet.vital-it.ch. Retrieved 2020-12-19.
  7. ^ a b "49876505 - GEO Profiles - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-12-19.
  8. ^ a b c d e "SMIM19 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2020-12-19.
  9. ^ a b c d e "PSORT II Prediction". psort.hgc.jp. Retrieved 2020-12-19.
  10. ^ a b "PSICQUIC View". www.ebi.ac.uk. Retrieved 2020-12-19.
  11. ^ a b c "AceView: Gene:C8orf40, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2020-09-29.
  12. ^ a b "Homo sapiens small integral membrane protein 19 (SMIM19), transcript variant 1, mRNA". 2020-09-14. {{cite journal}}: Cite journal requires |journal= (help)
  13. ^ a b c "ExPASy - Compute pI/Mw tool". web.expasy.org. Retrieved 2020-12-19.
  14. ^ a b c d e f g "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2020-12-19.
  15. ^ a b "TOPO2 Transmembrane Protein Display Page". www.sacs.ucsf.edu. Retrieved 2020-12-19.
  16. ^ a b "Motif Scan". myhits.sib.swiss. Retrieved 2020-12-19.
  17. ^ a b "ELM - Search the ELM resource". elm.eu.org. Retrieved 2020-12-19.
  18. ^ a b c d e f g "PHYRE2 Protein Fold Recognition Server". www.sbg.bio.ic.ac.uk. Retrieved 2020-12-19.
  19. ^ a b c d e f "Bioinformatics Toolkit". toolkit.tuebingen.mpg.de. Retrieved 2020-12-19.
  20. ^ a b c d e "I-TASSER server for protein structure and function prediction". zhanglab.ccmb.med.umich.edu. Retrieved 2020-12-19.
  21. ^ a b c "iCn3D: Web-based 3D Structure Viewer". www.ncbi.nlm.nih.gov. Retrieved 2020-12-19.
  22. ^ a b c d "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. Archived from the original on 2021-08-19. Retrieved 2020-12-19.
  23. ^ "Genepaint - Home of High Resolution Gene Expression Data". gp3.mpg.de. Retrieved 2020-12-19.
  24. ^ a b "RBPDB: The database of RNA-binding specificities". rbpdb.ccbr.utoronto.ca. Retrieved 2020-12-19.
  25. ^ a b "RNAfold web server". rna.tbi.univie.ac.at. Retrieved 2020-12-19.
  26. ^ a b c "ExPASy - Myristoylation tool". web.expasy.org. Retrieved 2020-12-19.
  27. ^ Pasanen P, Mäkinen J, Myllykangas L, Guerreiro R, Bras J, Valori M, et al. (July 2017). "Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2". Acta Neurologica Scandinavica. 136 (1): 59–63. doi:10.1111/ane.12697. PMID 27726124. S2CID 207014989.
  28. ^ Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, et al. (March 2014). "SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia". Neurogenetics. 15 (1): 23–30. doi:10.1007/s10048-013-0378-5. PMC 3969760. PMID 24135862.
  29. ^ "AceView: Gene:C8orf40, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2020-09-30.
  30. ^ "SMIM19 Gene - GeneCards | SMI19 Protein | SMI19 Antibody". www.genecards.org. Retrieved 2020-09-30.
  31. ^ Rafique S, Thomas JS, Sproul D, Bickmore WA (August 2015). "Estrogen-induced chromatin decondensation and nuclear re-organization linked to regional epigenetic regulation in breast cancer". Genome Biology. 16 (1): 145. doi:10.1186/s13059-015-0719-9. PMC 4536608. PMID 26235388.
  32. ^ Zhai JM, Yin XY, Hou X, Hao XY, Cai JP, Liang LJ, Zhang LJ (July 2013). "Analysis of the genome-wide DNA methylation profile of side population cells in hepatocellular carcinoma". Digestive Diseases and Sciences. 58 (7): 1934–47. doi:10.1007/s10620-013-2663-4. PMID 23625283. S2CID 28755082.
  33. ^ a b "SNP linked to Gene (geneID:114926) Via Contig Annotation". www.ncbi.nlm.nih.gov. Retrieved 2020-12-19.