HOXA6

Homeobox protein Hox-A6 is a protein that in humans is encoded by the HOXA6 gene.

HOXA6
Identifiers
Aliases	HOXA6, HOX1, HOX1.2, HOX1B, homeobox A6
External IDs	OMIM: 142951 MGI: 96178 HomoloGene: 7765 GeneCards: HOXA6
Gene location (Human) Chr. Chromosome 7 (human) Band 7p15.2 Start 27,145,396 bp End 27,150,603 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 B3|6 25.4 cM Start 52,183,268 bp End 52,185,702 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left uterine tube stromal cell of endometrium transverse colon right adrenal gland right uterine tube gastrocnemius muscle popliteal artery kidney seminal vesicula skin of abdomen Top expressed in neural tube ureter sensory ganglion posterior horn of spinal cord medulla oblongata renal cortex nephron proximal tubule anterior horn of spinal cord epidermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Cellular component nucleus Biological process embryonic skeletal system morphogenesis multicellular organism development regulation of transcription, DNA-templated transcription, DNA-templated anterior/posterior pattern specification embryonic skeletal system development regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3203 15403 Ensembl ENSG00000106006 ENSMUSG00000043219 UniProt P31267 P09092 RefSeq (mRNA) NM_024014 NM_010454 RefSeq (protein) NP_076919 NP_034584 Location (UCSC) Chr 7: 27.15 – 27.15 Mb Chr 6: 52.18 – 52.19 Mb PubMed search
Wikidata
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Function

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.

Clinical significance

Leukemia

HOXA6 was examined to be preferentially expressed in primitive cells (e.g. hematopoietic progenitor cells), under the regulation of growth factors and cell cycles. Interleukin 3 and all-trans retinoic acid were found to be the inducing factors that can stimulate the expression of HOXA6. In mitotic process, HOXA6 was mainly expressed in S-phase and G2M phase cells. Overexpression of HoxA6 increased proliferation but inhibited differentiation of multipotential stem cells in the process of hemopoiesis, even had the capacity to transform primary hematopoietic cells into immortal cell lines. Transplantation of these cell lines may cause acute myeloid leukemia in recipient animals. Also in patients with acute myeloid leukemia, HOXA6 expression was upregulated. The co-methylation of HOX genes, including HOXA6, leads to the dysfunction of tumor suppression genes by reducing gene expression. The methylation processes can be identified in adult chronic lymphocytic leukemia and childhood acute lymphocytic leukemia.

Glioblastoma

HOXA6 may also contribute to the invasive tendency of glioblastoma multiforme cells. Suppressed expression of HOXA6 by introducing its antisense fragments can reduce the invasion of glioblastoma multiforme cells.

Further reading

• Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
• Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
• Walters JR, Howard A, Rumble HE, Prathalingam SR, Shaw-Smith CJ, Legon S (August 1997). "Differences in expression of homeobox transcription factors in proximal and distal human small intestine". Gastroenterology. 113 (2): 472–7. doi:10.1053/gast.1997.v113.pm9247466. PMID 9247466.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (February 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.