Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3397
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ID1   Gene   UCSC   Ensembl
Aliases ID, bHLHb24
Gene name inhibitor of DNA binding 1, HLH protein
Alternate names DNA-binding protein inhibitor ID-1, class B basic helix-loop-helix protein 24, dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein), inhibitor of DNA binding 1, dominant negative helix-loop-helix protein, inhibitor of differen,
Gene location 20q11.21 (31605282: 31606514)     Exons: 1     NC_000020.11
Gene summary(Entrez) The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 600349

Protein Summary

Protein general information P41134  

Name: DNA binding protein inhibitor ID 1 (Class B basic helix loop helix protein 24) (bHLHb24) (Inhibitor of DNA binding 1) (Inhibitor of differentiation 1)

Length: 155  Mass: 16,133

Sequence MKVASGSTATAAAGPSCALKAGKTASGAGEVVRCLSEQSVAISRCAGGAGARLPALLDEQQVNVLLYDMNGCYSR
LKELVPTLPQNRKVSKVEILQHVIDYIRDLQLELNSESEVGTPGGRGLPVRAPLSTLNGEISALTAEAACVPADD
RILCR
Structural information
Protein Domains
bHLH. (53-105)

Motifs
Nuclear export(98-111)
Interpro:  IPR011598 IPR026052
Prosite:   PS50888

Pfam:  
PF00010
CDD:   cd00083

DIP:  
38112
STRING:   ENSP00000365280;
Other Databases GeneCards:  ID1;  Malacards:  ID1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0001525 angiogenesis
TAS biological_process
GO:0001886 endothelial cell morphoge
nesis
IEA biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IC cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005813 centrosome
IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007420 brain development
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007623 circadian rhythm
IEA biological_process
GO:0008022 protein C-terminus bindin
g
IEA molecular_function
GO:0008134 transcription factor bind
ing
IEA molecular_function
GO:0010621 negative regulation of tr
anscription by transcript
ion factor localization
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0030182 neuron differentiation
IEA biological_process
GO:0030509 BMP signaling pathway
IEA biological_process
GO:0031648 protein destabilization
IEA biological_process
GO:0032233 positive regulation of ac
tin filament bundle assem
bly
IEA biological_process
GO:0032963 collagen metabolic proces
s
IEA biological_process
GO:0036164 cell-abiotic substrate ad
hesion
IEA biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043408 regulation of MAPK cascad
e
IEA biological_process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0043534 blood vessel endothelial
cell migration
TAS biological_process
GO:0043621 protein self-association
IEA molecular_function
GO:0045602 negative regulation of en
dothelial cell differenti
ation
IEA biological_process
GO:0045668 negative regulation of os
teoblast differentiation
IEA biological_process
GO:0045765 regulation of angiogenesi
s
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046677 response to antibiotic
IEA biological_process
GO:0047485 protein N-terminus bindin
g
IEA molecular_function
GO:0048514 blood vessel morphogenesi
s
TAS biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050774 negative regulation of de
ndrite morphogenesis
IEA biological_process
GO:0060425 lung morphogenesis
IEA biological_process
GO:0060426 lung vasculature developm
ent
IEA biological_process
GO:0070628 proteasome binding
IEA molecular_function
GO:0071364 cellular response to epid
ermal growth factor stimu
lus
IEA biological_process
GO:0090074 negative regulation of pr
otein homodimerization ac
tivity
IEA biological_process
GO:1901653 cellular response to pept
ide
IEA biological_process
GO:1903026 negative regulation of RN
A polymerase II regulator
y region sequence-specifi
c DNA binding
IEA biological_process
GO:1903351 cellular response to dopa
mine
IEA biological_process
GO:1990090 cellular response to nerv
e growth factor stimulus
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0001525 angiogenesis
TAS biological_process
GO:0001886 endothelial cell morphoge
nesis
IEA biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IC cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005813 centrosome
IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007420 brain development
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007623 circadian rhythm
IEA biological_process
GO:0008022 protein C-terminus bindin
g
IEA molecular_function
GO:0008134 transcription factor bind
ing
IEA molecular_function
GO:0010621 negative regulation of tr
anscription by transcript
ion factor localization
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0030182 neuron differentiation
IEA biological_process
GO:0030509 BMP signaling pathway
IEA biological_process
GO:0031648 protein destabilization
IEA biological_process
GO:0032091 negative regulation of pr
otein binding
IEA biological_process
GO:0032233 positive regulation of ac
tin filament bundle assem
bly
IEA biological_process
GO:0032963 collagen metabolic proces
s
IEA biological_process
GO:0036164 cell-abiotic substrate ad
hesion
IEA biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043392 negative regulation of DN
A binding
IEA biological_process
GO:0043408 regulation of MAPK cascad
e
IEA biological_process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0043534 blood vessel endothelial
cell migration
TAS biological_process
GO:0043621 protein self-association
IEA molecular_function
GO:0045602 negative regulation of en
dothelial cell differenti
ation
IEA biological_process
GO:0045668 negative regulation of os
teoblast differentiation
IEA biological_process
GO:0045765 regulation of angiogenesi
s
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046677 response to antibiotic
IEA biological_process
GO:0046983 protein dimerization acti
vity
IEA molecular_function
GO:0047485 protein N-terminus bindin
g
IEA molecular_function
GO:0048511 rhythmic process
IEA biological_process
GO:0048514 blood vessel morphogenesi
s
TAS biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050774 negative regulation of de
ndrite morphogenesis
IEA biological_process
GO:0060425 lung morphogenesis
IEA biological_process
GO:0060426 lung vasculature developm
ent
IEA biological_process
GO:0070628 proteasome binding
IEA molecular_function
GO:0071364 cellular response to epid
ermal growth factor stimu
lus
IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IEA biological_process
GO:0090074 negative regulation of pr
otein homodimerization ac
tivity
IEA biological_process
GO:1901342 regulation of vasculature
development
IEA biological_process
GO:1901653 cellular response to pept
ide
IEA biological_process
GO:1903026 negative regulation of RN
A polymerase II regulator
y region sequence-specifi
c DNA binding
IEA biological_process
GO:1903351 cellular response to dopa
mine
IEA biological_process
GO:1990090 cellular response to nerv
e growth factor stimulus
IEA biological_process
GO:0001525 angiogenesis
TAS biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IC cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0010621 negative regulation of tr
anscription by transcript
ion factor localization
TAS biological_process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0043534 blood vessel endothelial
cell migration
TAS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0048514 blood vessel morphogenesi
s
TAS biological_process

KEGG pathways

hsa04015  Rap1 signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04390  Hippo signaling pathway
hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases References
Endometriosis PMID: 26577912
Endometriosis INFBASE26577912

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26577912 Endometrio
sis

29 women with e
ndometriosis

Show abstract