• Gene id: 3206

Gene Summary

• Gene Symbol: HOXA10   Gene   UCSC   Ensembl
• Aliases: HOX1, HOX1.8, HOX1H, PL
• Gene name: homeobox A10
• Alternate names: homeobox protein Hox-A10, homeo box A10, homeobox protein 1H, homeobox protein HOXA10, homeobox protein Hox-1.8, homeobox protein Hox-1H,
• Gene location: 7p15.2 (27179860: 27170604)     Exons: 3     NC_000007.14
• Gene summary(Entrez): 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

SNPs

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs6461992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27181212A>G
NC_000007.14   g.27181212A>T
NC_000007.13   g.27220831A>G
NC_000007.13   g.27220831A>T
NG_012079.1   g.9005T>C
NG_012079.1   g.9005T>A
NM_005523.6   c.*1584T>C
NM_005523.6   c.*1584T>A
NM_005523.5   c.*1584T>C
NM_005523.5   c.*1584T>A|SEQ=[A

Protein Summary

• Protein general information: P31260  
  • Name: Homeobox protein Hox A10 (Homeobox protein Hox 1.8) (Homeobox protein Hox 1H) (PL)
  • Length: 410  
  • Mass: 42414
• Sequence:

  MSARKGYLLPSPNYPTTMSCSESPAANSFLVDSLISSGRGEAGGGGGGAGGGGGGGYYAHGGVYLPPAADLPYGL
  QSCGLFPTLGGKRNEAASPGSGGGGGGLGPGAHGYGPSPIDLWLDAPRSCRMEPPDGPPPPPQQQPPPPPQPPQP
  APQATSCSFAQNIKEESSYCLYDSADKCPKVSATAAELAPFPRGPPPDGCALGTSSGVPVPGYFRLSQAYGTAKG
  YGSGGGGAQQLGAGPFPAQPPGRGFDLPPALASGSADAARKERALDSPPPPTLACGSGGGSQGDEEAHASSSAAE
  ELSPAPSESSKASPEKDSLGNSKGENAANWLTAKSGRKKRCPYTKHQTLELEKEFLFNMYLTRERRLEISRSVHL
  TDRQVKIWFQNRRMKLKKMNRENRIRELTANFNFS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000283921
• Other Databases: GeneCards:  HOXA10  Malacards:  HOXA10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060065	uterus development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 10037424

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
10037424	Cryptorchidism	24 nucleotide deletion		5	Male infertility