Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3206
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (27180260: 27170590)     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 development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011]
OMIM 142957

Protein Summary
Protein general information P31260  

Name: Homeobox protein Hox A10 (Homeobox protein Hox 1.8) (Homeobox protein Hox 1H) (PL)

Length: 410  Mass: 42,414

Sequence MSARKGYLLPSPNYPTTMSCSESPAANSFLVDSLISSGRGEAGGGGGGAGGGGGGGYYAHGGVYLPPAADLPYGL
QSCGLFPTLGGKRNEAASPGSGGGGGGLGPGAHGYGPSPIDLWLDAPRSCRMEPPDGPPPPPQQQPPPPPQPPQP
APQATSCSFAQNIKEESSYCLYDSADKCPKVSATAAELAPFPRGPPPDGCALGTSSGVPVPGYFRLSQAYGTAKG
YGSGGGGAQQLGAGPFPAQPPGRGFDLPPALASGSADAARKERALDSPPPPTLACGSGGGSQGDEEAHASSSAAE
ELSPAPSESSKASPEKDSLGNSKGENAANWLTAKSGRKKRCPYTKHQTLELEKEFLFNMYLTRERRLEISRSVHL
TDRQVKIWFQNRRMKLKKMNRENRIRELTANFNFS
Structural information
Interpro:  IPR009057 IPR017970 IPR001356 IPR020479
Prosite:   PS00027 PS50071

Pfam:  		 PF00046
MINT:   243009
STRING:   ENSP00000283921;
Other Databases GeneCards:  HOXA10;  Malacards:  HOXA10

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0001501 skeletal system developme
nt
 IEA biological_process
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005667 transcription factor comp
lex
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0006366 transcription from RNA po
lymerase II promoter
 IEA biological_process
GO:0007275 multicellular organism de
velopment
 TAS biological_process
GO:0007283 spermatogenesis
 IEA biological_process
GO:0007338 single fertilization
 IEA biological_process
GO:0008584 male gonad development
 IEA biological_process
GO:0009952 anterior/posterior patter
n specification
 IEA biological_process
GO:0009954 proximal/distal pattern f
ormation
 IEA biological_process
GO:0030326 embryonic limb morphogene
sis
 IEA biological_process
GO:0042826 histone deacetylase bindi
ng
 IPI molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0060065 uterus development
 IEA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0001501 skeletal system developme
nt
 IEA biological_process
GO:0003677 DNA binding
 IEA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005667 transcription factor comp
lex
 IEA cellular_component
GO:0005737 cytoplasm
 IDA 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:0006366 transcription from RNA po
lymerase II promoter
 IEA biological_process
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0007275 multicellular organism de
velopment
 TAS biological_process
GO:0007283 spermatogenesis
 IEA biological_process
GO:0007283 spermatogenesis
 TAS biological_process
GO:0007338 single fertilization
 IEA biological_process
GO:0008584 male gonad development
 IEA biological_process
GO:0009952 anterior/posterior patter
n specification
 IEA biological_process
GO:0009954 proximal/distal pattern f
ormation
 IEA biological_process
GO:0010468 regulation of gene expres
sion
 IEA biological_process
GO:0030326 embryonic limb morphogene
sis
 IEA biological_process
GO:0042826 histone deacetylase bindi
ng
 IPI molecular_function
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0060065 uterus development
 IEA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0007275 multicellular organism de
velopment
 TAS biological_process
GO:0007283 spermatogenesis
 TAS biological_process
GO:0042826 histone deacetylase bindi
ng
 IPI molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process

KEGG pathways

hsa05202  Transcriptional misregulation in cancer

Diseases

Associated diseases References
Adenomyosis PMID: 21067721
Congenital absence of the uterus and vagina (CAUV) PMID: 17482600
Cryptorchidism PMID: 14960020
Endometriosis PMID: 10460226
Female infertility PMID: 22999554
Idiopathic infertility PMID: 21526497
Peritoneal endometriosis PMID: 20171623
Peritoneal endometriosis PMID: 20171623
Polycystic ovary syndrome (PCOS) PMID: 22576737
Rectosigmoid endometriosis INFBASE25217304
Implantation defects INFBASE23979130
Peritoneal endometriosis INFBASE20171623
Female infertility INFBASE20971605
Endometriosis associated infertility INFBASE10325287
Endometriosis INFBASE10325287
Rectosigmoid endometriosis PMID: 25217304
Recurrent miscarriage PMID: 23234018
Unexplained infertility PMID: 11953062

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20400074 Endometrio
sis
24 (12 normal c
ontrols, 12 pat
ients affected
by moderate to
severe endometr
iosi)
 PROK1
HOXA10
and PR
 Show abstract
24963168 Endometrio
sis
30 (18 women ad
mitted for surg
ery for endomet
riosis-related
pain (cases), 1
2 women admitte
d for surgery b
ecause of non-e
ndometriotic di
sease (control)
)
Show abstract
23899551 Endometrio
sis
41 (15 endometr
ium from patien
ts, 26 endometr
ium from contro
ls)
 HOXA10
ESR1
CDH1
CDKN1A
HRH4
HIST2H3C
 Show abstract
22333228 Endometrio
sis
60 (30 patients
with endometri
osis, 30 patien
ts with benign
ovary cyst or t
ubal infertilit
y undergoing la
paroscopic surg
ery were select
ed as controls)
 Female infertility HOXA10
 Show abstract
21956427 Endometrio
sis
82 (50 controls
, 32 women with
endometriosis)
 HOXA10
 Show abstract
18829447 Endometrio
sis
50 (30 controls
, 20 subjects w
ith endometrios
is)
 Calpain5
HOXA10
 Show abstract
18672236 Endometrio
sis
47 (24 women wi
th endometriosi
s, 23 healthy v
olunteers of si
milar age)
 GdA
OPN
LPA3
HOXA10
 Show abstract
18339267 Endometrio
sis
 Taiwane
se
 166 (112 patien
ts with endomet
riosis, in 54 w
omen without en
dometriosis)
 HOXA10
 Show abstract
17350963 Endometrio
sis

HOXA10
 Show abstract
16098858 Endometrio
sis
15 (6 women wit
h laparoscopica
lly confirmed e
ndometriosis,
4 women who und
erwent tubal li
gation and were
confirmed to h
ave no endometr
iosis, 5 women
with no gynecol
ogic complaints
was collected
and also used a
s controls)
 HOXA10
 Show abstract
15126568 Endometrio
sis

EMX2
HOXA10
 Show abstract
10325287 Endometrio
sis
80 (40 normal c
ycling controls
, 40 patients w
ith documented
endometriosis)
 Female infertility HOXA10
HOXA11
 Show abstract
22279148 Endometrio
sis

FKBP4
FKBP5
HOXA10
 Show abstract
20971605 Endometrio
sis
 Polish
 32 (17 infertil
e women with mi
nimal endometri
osis, 15 health
y fertile women
)
 Female infertility HOXA10
 Show abstract
25217304 Endometrio
sis (recto
sigmoid)
18 consecutive
patients with e
ndometriosis
 HOXA10
ER-A
PR
PR-B
 Show abstract
23979130 Endometrio
sis
57 (31 infertil
e women with en
dometriosis (ag
e?26 age and BMI-
matched inferti
le women withou
t endometriosis
)
 Female infertility HOXA-10
HOXA-11
MMP-2
MMP-9
integrin
LIF
 Show abstract
10460226 Endometrio
sis

Female infertility HOXA-10
 Show abstract
19736237 Endometrio
sis
87 (20 peritone
al endometriosi
s, 22 deep infi
ltrating endome
triosis, 20 ova
rian endometrio
sis, 16 uterine
myoma, 9 unexp
lained infertil
ity)
 Female infertility
Show abstract
20171623 Endometrio
sis (Perit
oneal)
71 (30 deep end
ometriotic nodu
les, 11 periton
eal lesions, 30
eutopic endome
trium and vagin
al tissue (n=30
) were collecte
d for control p
urposes)
 HOXA-9
HOXA-10
HOXA-11
and HOXA-13
 Show abstract