Endometriosis Knowledgebase

Search Result

Gene id

3207

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HOXA11 Gene UCSC Ensembl

Aliases

HOX1, HOX1I, RUSAT1

Gene name

homeobox A11

Alternate names

homeobox protein Hox-A11, homeo box 1I, homeobox protein HOXA11, homeobox protein Hox-1I,

Gene location

7p15.2 (27185215: 27181156) Exons: 2 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 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. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]

OMIM

142958

Protein Summary

Protein general information

P31270

Name: Homeobox protein Hox A11 (Homeobox protein Hox 1I)

Length: 313 Mass: 34,486

Sequence

MDFDERGPCSSNMYLPSCTYYVSGPDFSSLPSFLPQTPSSRPMTYSYSSNLPQVQPVREVTFREYAIEPATKWHP
RGNLAHCYSAEELVHRDCLQAPSAAGVPGDVLAKSSANVYHHPTPAVSSNFYSTVGRNGVLPQAFDQFFETAYGT
PENLASSDYPGDKSAEKGPPAATATSAAAAAAATGAPATSSSDSGGGGGCRETAAAAEEKERRRRPESSSSPESS
SGHTEDKAGGSSGQRTRKKRCPYTKYQIRELEREFFFSVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKIN
RDRLQYYSANPLL

Structural information

Interpro:	IPR021918 IPR009057 IPR017970 IPR001356 IPR020479
Prosite:	PS00027 PS50071
Pfam:	PF12045 PF00046
STRING:	ENSP00000006015;

Other Databases

GeneCards: HOXA11; Malacards: HOXA11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system developme nt	ISS	biological_process
GO:0001656	metanephros development	IEA	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	ISS	biological_process
GO:0001759	organ induction	IEA	biological_process
GO:0005634	nucleus	IEA	cellular_component
GO:0005667	transcription factor comp lex	ISS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0007275	multicellular organism de velopment	ISS	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007338	single fertilization	IEA	biological_process
GO:0007501	mesodermal cell fate spec ification	ISS	biological_process
GO:0008584	male gonad development	IEA	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009952	anterior/posterior patter n specification	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	ISS	biological_process
GO:0009954	proximal/distal pattern f ormation	IEA	biological_process
GO:0010720	positive regulation of ce ll development	ISS	biological_process
GO:0030326	embryonic limb morphogene sis	ISS	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	ISS	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0035115	embryonic forelimb morpho genesis	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0043234	protein complex	ISS	cellular_component
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0048589	developmental growth	ISS	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological_process
GO:0060351	cartilage development inv olved in endochondral bon e morphogenesis	ISS	biological_process
GO:0001501	skeletal system developme nt	IEA	biological_process
GO:0001501	skeletal system developme nt	ISS	biological_process
GO:0001656	metanephros development	IEA	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IEA	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	ISS	biological_process
GO:0001759	organ induction	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005667	transcription factor comp lex	ISS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007275	multicellular organism de velopment	ISS	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007338	single fertilization	IEA	biological_process
GO:0007501	mesodermal cell fate spec ification	IEA	biological_process
GO:0007501	mesodermal cell fate spec ification	ISS	biological_process
GO:0008584	male gonad development	IEA	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009952	anterior/posterior patter n specification	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	ISS	biological_process
GO:0009954	proximal/distal pattern f ormation	IEA	biological_process
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010720	positive regulation of ce ll development	IEA	biological_process
GO:0010720	positive regulation of ce ll development	ISS	biological_process
GO:0030326	embryonic limb morphogene sis	IEA	biological_process
GO:0030326	embryonic limb morphogene sis	ISS	biological_process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	ISS	biological_process
GO:0032993	protein-DNA complex	IEA	cellular_component
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0035115	embryonic forelimb morpho genesis	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0043234	protein complex	IEA	cellular_component
GO:0043234	protein complex	ISS	cellular_component
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0048589	developmental growth	IEA	biological_process
GO:0048589	developmental growth	ISS	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological_process
GO:0060351	cartilage development inv olved in endochondral bon e morphogenesis	IEA	biological_process
GO:0060351	cartilage development inv olved in endochondral bon e morphogenesis	ISS	biological_process
GO:0001501	skeletal system developme nt	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	ISS	biological_process
GO:0005667	transcription factor comp lex	ISS	cellular_component
GO:0007275	multicellular organism de velopment	ISS	biological_process
GO:0007501	mesodermal cell fate spec ification	ISS	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	ISS	biological_process
GO:0010720	positive regulation of ce ll development	ISS	biological_process
GO:0030326	embryonic limb morphogene sis	ISS	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	ISS	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0043234	protein complex	ISS	cellular_component
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0048589	developmental growth	ISS	biological_process
GO:0060351	cartilage development inv olved in endochondral bon e morphogenesis	ISS	biological_process

KEGG pathways

hsa05202 Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Congenital abnormalities	PMID: 19255789
Endometriosis	PMID: 23979130
Female infertility	PMID: 22999554
Idiopathic infertility	PMID: 21526497
Impaired infertility	PMID: 20695189
Implantation failure	PMID
Implantation defects	INFBASE23979130
Endometriosis associated infertility	INFBASE23979130
Endometriosis	INFBASE22233680

PubMed references

PMID	Condition	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21987111	Endometrio sis		16 (8 with endo metriosis, 8 fe rtile controls)		HOXA11 LIF and BTEB1	Show abstract
10325287	Endometrio sis		80 (40 normal c ycling controls , 40 patients w ith documented endometriosis)	Female infertility	HOXA10 HOXA11	Show abstract
22233680	Endometrio sis	Polish	50 (18 infertil e women with mi nimal endometri osis, 16 health y fertile women , 16 infertile women with fall opian tubal occ lusion)	Female infertility	DNMT1 DNMT3A and DNMT3B	Show abstract
23979130	Endometrio sisEndomet riosis ass ociated in fertility		57 (31 infertil e women with en dometriosis, 26 infertile wome n without endom etriosis)	Female infertility	HOXA-10 HOXA-11 MMP-2 MMP-9 integrin LIF	Show abstract