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HOXA1 (homeobox A1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3198
Gene nameGene Name - the full gene name approved by the HGNC.
Homeobox A1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HOXA1
SynonymsGene synonyms aliases
BSAS, HOX1, HOX1F
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.2
SummarySummary of gene provided in NCBI Entrez Gene.
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 develo
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001140 hsa-miR-10a-5p Luciferase reporter assay, qRT-PCR, Western blot 16549775
MIRT000152 hsa-miR-210-3p Luciferase reporter assay 19782034
MIRT001140 hsa-miR-10a-5p Review 20029422
MIRT004641 hsa-miR-10b-5p Review 20029422
MIRT001140 hsa-miR-10a-5p Reporter assay;Other 16549775
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 15665309
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P49639
Protein name Homeobox protein Hox-A1 (Homeobox protein Hox-1F)
Protein function Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain
230 286
Homeodomain
Domain
Sequence
MDNARMNSFLEYPILSSGDSGTCSARAYPSDHRITTFQSCAVSANSCGGDDRFLVGRGVQ
IGSPHHHHHHHHHHPQPATYQTSGNLGVSYSHSSCGPSYGSQNFSAPYSPYALNQEADVS
GGYPQCAPAVYSGNLSSPMVQHHHHHQGYAGGAVGSPQYIHHSYGQEHQSLALATYNNSL
SPLHASHQEACRSPASETSSPAQTFDWMKVKRNPPKTGKVGEYGYLGQPNAVRTNFTTKQ
LTELEKEFHFNKYLTRARRVEIAASLQLNETQVKIWFQNRRMKQKK
REKEGLLPISPATP
PGNDEKAEESSEKSSSSPCVPSPGSSTSDTLTTSH
Sequence length 335
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Signaling pathways regulating pluripotency of stem cells  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anencephaly Cranioschisis rs773607884 10529420
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 11091361
Bosley-salih-alorainy syndrome Bosley-Salih-Alorainy Syndrome rs769152039, rs104894017, rs1562700083 24239177, 17875913
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049 21940751
Unknown
Disease name Disease term dbSNP ID References
Athabaskan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome
Drachtman weinblatt sitarz syndrome Congenital neurologic anomalies 10529420

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