Gene: ENSG00000012048 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000012048
Transcript Identifier
ENST00000471181
Gene Type
Coding gene
Location
17 : 43045678-43124096 : negative

Family Information

Homologous gene family
HOM02SEM017431
(5 genes in 4 species)
specific family

Descriptions

gene_descr
breast cancer 1, early onset

Identifiers

Type Value
pidENSP00000418960
HGNC1100
UniprotP38398
RefSeq_mRNANM_007300.3

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:2000620
IDA
Genome Projectpositive regulation of histone H4-K16 acetylation
GO:2000620
IDA
Gene Ontologypositive regulation of histone H4-K16 acetylation1
GO:2000617
IDA
Genome Projectpositive regulation of histone H3-K9 acetylation
GO:2000617
IDA
Gene Ontologypositive regulation of histone H3-K9 acetylation1
GO:2000378
IMP
Genome Projectnegative regulation of reactive oxygen species metabolic process
GO:2000378
IMP
Gene Ontologynegative regulation of reactive oxygen species metabolic process2
GO:1902042
IMP
Genome Projectnegative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902042
IMP
Gene Ontologynegative regulation of extrinsic apoptotic signaling pathway via death domain receptors2
GO:1901796
TAS
Genome Projectregulation of signal transduction by p53 class mediator
GO:0085020
IDA
Genome Projectprotein K6-linked ubiquitination
GO:0085020
IDA
Gene Ontologyprotein K6-linked ubiquitination3 4
GO:0071681
IDA
Genome Projectcellular response to indole-3-methanol
GO:0071681
IDA
Gene Ontologycellular response to indole-3-methanol5
GO:0071356
IMP
Genome Projectcellular response to tumor necrosis factor
GO:0071356
IMP
Gene Ontologycellular response to tumor necrosis factor2
GO:0071158
IDA
Genome Projectpositive regulation of cell cycle arrest
GO:0071158
IDA
Gene Ontologypositive regulation of cell cycle arrest6
GO:0070512
IDA
Genome Projectpositive regulation of histone H4-K20 methylation
GO:0070512
IDA
Gene Ontologypositive regulation of histone H4-K20 methylation1
GO:0051865
IDA
Genome Projectprotein autoubiquitination
GO:0051865
IDA
Gene Ontologyprotein autoubiquitination3 4
GO:0051574
IEA
Genome Projectpositive regulation of histone H3-K9 methylation
GO:0051573
IDA
Genome Projectnegative regulation of histone H3-K9 methylation
GO:0051573
IDA
Gene Ontologynegative regulation of histone H3-K9 methylation1
GO:0051572
IEA
Genome Projectnegative regulation of histone H3-K4 methylation
GO:0051571
IDA
Genome Projectpositive regulation of histone H3-K4 methylation
GO:0051571
IDA
Gene Ontologypositive regulation of histone H3-K4 methylation1
GO:0046600
NAS
Genome Projectnegative regulation of centriole replication
GO:0046600
NAS
Gene Ontologynegative regulation of centriole replication7
GO:0045944
IDA, IMP
Genome Projectpositive regulation of transcription by RNA polymerase II
GO:0045944
IDA, IMP
Gene Ontologypositive regulation of transcription by RNA polymerase II1 8
GO:0045893
IDA
TAS, NAS
Genome Projectpositive regulation of transcription, DNA-templated
GO:0045893
IDA
TAS, NAS
Gene Ontologypositive regulation of transcription, DNA-templated9 10 11
GO:0045892
IDA
Genome Projectnegative regulation of transcription, DNA-templated
GO:0045892
IDA
Gene Ontologynegative regulation of transcription, DNA-templated12
GO:0045766
IMP
Genome Projectpositive regulation of angiogenesis
GO:0045766
IMP
Gene Ontologypositive regulation of angiogenesis2
GO:0045739
IMP
Genome Projectpositive regulation of DNA repair
GO:0045739
IMP
Gene Ontologypositive regulation of DNA repair13 14 15
GO:0045717
IMP
Genome Projectnegative regulation of fatty acid biosynthetic process
GO:0045717
IMP
Gene Ontologynegative regulation of fatty acid biosynthetic process16
GO:0044818
IEA
Genome Projectmitotic G2/M transition checkpoint
GO:0044030
IEA
Genome Projectregulation of DNA methylation
GO:0043627
IDA
Genome Projectresponse to estrogen
GO:0043627
IDA
Gene Ontologyresponse to estrogen17
GO:0043009
IBA
Genome Projectchordate embryonic development
GO:0042981
TAS
Genome Projectregulation of apoptotic process
GO:0042981
TAS
Gene Ontologyregulation of apoptotic process9
GO:0042127
TAS
Genome Projectregulation of cell proliferation
GO:0042127
TAS
Gene Ontologyregulation of cell proliferation9
GO:0035067
IBA
Genome Projectnegative regulation of histone acetylation
GO:0035066
IDA
Genome Projectpositive regulation of histone acetylation
GO:0035066
IDA
Gene Ontologypositive regulation of histone acetylation1
GO:0033147
IMP
Genome Projectnegative regulation of intracellular estrogen receptor signaling pathway
GO:0033147
IMP
Gene Ontologynegative regulation of intracellular estrogen receptor signaling pathway18
GO:0031572
IMP
Genome ProjectG2 DNA damage checkpoint
GO:0031398
IDA
Genome Projectpositive regulation of protein ubiquitination
GO:0031398
IDA
Gene Ontologypositive regulation of protein ubiquitination19
GO:0030521
NAS
Genome Projectandrogen receptor signaling pathway
GO:0030521
NAS
Gene Ontologyandrogen receptor signaling pathway10
GO:0016579
TAS
Genome Projectprotein deubiquitination
GO:0016579
TAS
Gene Ontologyprotein deubiquitination
GO:0016567
IDA
Genome Projectprotein ubiquitination
GO:0016567
IDA
Gene Ontologyprotein ubiquitination20
GO:0010628
IMP
Genome Projectpositive regulation of gene expression
GO:0010628
IMP
Gene Ontologypositive regulation of gene expression2
GO:0010575
IMP
Genome Projectpositive regulation of vascular endothelial growth factor production
GO:0010575
IMP
Gene Ontologypositive regulation of vascular endothelial growth factor production2
GO:0010212
IMP
Genome Projectresponse to ionizing radiation
GO:0010212
IMP
Gene Ontologyresponse to ionizing radiation13 14 15
GO:0009048
IBA
Genome Projectdosage compensation by inactivation of X chromosome
GO:0008630
IDA
Genome Projectintrinsic apoptotic signaling pathway in response to DNA damage
GO:0008630
IDA
Gene Ontologyintrinsic apoptotic signaling pathway in response to DNA damage21
GO:0007098
IEA
Genome Projectcentrosome cycle
GO:0007059
IMP
Genome Projectchromosome segregation
GO:0007059
IMP
Gene Ontologychromosome segregation19
GO:0006978
TAS
Genome ProjectDNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0006978
TAS
Gene OntologyDNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator9
GO:0006974
TAS
Genome Projectcellular response to DNA damage stimulus
GO:0006974
TAS
Gene Ontologycellular response to DNA damage stimulus22
GO:0006915
TAS
Genome Projectapoptotic process
GO:0006915
TAS
Gene Ontologyapoptotic process9
GO:0006633
IEA
Genome Projectfatty acid biosynthetic process
GO:0006359
TAS
Genome Projectregulation of transcription by RNA polymerase III
GO:0006359
TAS
Gene Ontologyregulation of transcription by RNA polymerase III9
GO:0006357
TAS
Genome Projectregulation of transcription by RNA polymerase II
GO:0006357
IMP
Gene Ontologyregulation of transcription by RNA polymerase II23
GO:0006351
IEA
Genome Projecttranscription, DNA-templated
GO:0006349
IEA
Genome Projectregulation of gene expression by genetic imprinting
GO:0006303
TAS
Genome Projectdouble-strand break repair via nonhomologous end joining
GO:0006303
TAS
Gene Ontologydouble-strand break repair via nonhomologous end joining
GO:0006302
IDA, IMP
Genome Projectdouble-strand break repair
GO:0006302
IDA, IMP
Gene Ontologydouble-strand break repair13 14 15 24
GO:0006301
IDA
Genome Projectpostreplication repair
GO:0006301
IDA
Gene Ontologypostreplication repair20
GO:0006260
TAS
Genome ProjectDNA replication
GO:0006260
TAS
Gene OntologyDNA replication
GO:0000732
TAS
Genome Projectstrand displacement
GO:0000731
TAS
Genome ProjectDNA synthesis involved in DNA repair
GO:0000729
TAS
Genome ProjectDNA double-strand break processing
GO:0000729
TAS
Gene OntologyDNA double-strand break processing
GO:0000724
IDA
Genome Projectdouble-strand break repair via homologous recombination
GO:0000724
IDA
Gene Ontologydouble-strand break repair via homologous recombination20
GO:0072425
IMP
Gene Ontologysignal transduction involved in G2 DNA damage checkpoint13 14 15
GO:0070317
TAS
Gene Ontologynegative regulation of G0 to G1 transition
GO:0009888
IEA
PLAZA Integrative Orthologytissue development AT1G04020
GO:0048507
IEA
PLAZA Integrative Orthologymeristem development AT1G04020
GO:0009933
IEA
PLAZA Integrative Orthologymeristem structural organization AT1G04020
GO:0048827
IEA
PLAZA Integrative Orthologyphyllome development AT1G04020
GO:0009934
IEA
PLAZA Integrative Orthologyregulation of meristem structural organization AT1G04020
GO:0099402
IEA
PLAZA Integrative Orthologyplant organ development AT1G04020
GO:0048366
IEA
PLAZA Integrative Orthologyleaf development AT1G04020
GO:0048532
IEA
PLAZA Integrative Orthologyanatomical structure arrangement AT1G04020
GO:0048367
IEA
PLAZA Integrative Orthologyshoot system development AT1G04020
GO:0048509
IEA
PLAZA Integrative Orthologyregulation of meristem development AT1G04020

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0050681
NAS
Genome Projectandrogen receptor binding
GO:0050681
NAS
Gene Ontologyandrogen receptor binding10
GO:0044212
IDA
Genome Projecttranscription regulatory region DNA binding
GO:0044212
IDA
Gene Ontologytranscription regulatory region DNA binding1
GO:0031625
IPI
Genome Projectubiquitin protein ligase binding
GO:0031625
IPI
Gene Ontologyubiquitin protein ligase binding25
GO:0019899
IPI
Genome Projectenzyme binding
GO:0019899
IPI
Gene Ontologyenzyme binding19
GO:0015631
NAS
Genome Projecttubulin binding
GO:0015631
NAS
Gene Ontologytubulin binding7
GO:0008270
IEA
Genome Projectzinc ion binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding4 11 13 14 15 16 19 21 23 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72
GO:0004842
IDA
Genome Projectubiquitin-protein transferase activity
GO:0004842
IDA
Gene Ontologyubiquitin-protein transferase activity3 4 20 55
GO:0003723
IDA
Genome ProjectRNA binding
GO:0003723
IDA
Gene OntologyRNA binding73
GO:0003713
NAS
Genome Projecttranscription coactivator activity
GO:0003713
IMP
NAS
Gene Ontologytranscription coactivator activity10 23
GO:0003684
IEA
Genome Projectdamaged DNA binding
GO:0003677
TAS
Genome ProjectDNA binding
GO:0003677
TAS
Gene OntologyDNA binding23
GO:0070063
IDA
Gene OntologyRNA polymerase binding23
GO:0042802
IPI
Gene Ontologyidentical protein binding26 72

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0070531
IDA
Genome ProjectBRCA1-A complex
GO:0070531
IDA
Gene OntologyBRCA1-A complex13 15 74 75 76
GO:0031436
IDA
Genome ProjectBRCA1-BARD1 complex
GO:0031436
IDA
Gene OntologyBRCA1-BARD1 complex3 4 45 55
GO:0008274
NAS
Genome Projectgamma-tubulin ring complex
GO:0008274
NAS
Gene Ontologygamma-tubulin ring complex7
GO:0005886
IDA
Genome Projectplasma membrane
GO:0005886
IDA
Gene Ontologyplasma membrane77
GO:0005737
IDA
Genome Projectcytoplasm
GO:0005737
IDA
Gene Ontologycytoplasm11
GO:0005694
ISS
Genome Projectchromosome
GO:0005694
ISS
Gene Ontologychromosome
GO:0005654
TAS
Genome Projectnucleoplasm
GO:0005654
TAS
Gene Ontologynucleoplasm
GO:0005634
IDA
Genome Projectnucleus
GO:0005634
IDA
Gene Ontologynucleus11 13 14 78
GO:0000800
IDA
Genome Projectlateral element
GO:0000800
IDA
Gene Ontologylateral element29
GO:0000151
NAS
Genome Projectubiquitin ligase complex
GO:0000151
NAS
Gene Ontologyubiquitin ligase complex79
GO:1990904
IDA
Gene Ontologyribonucleoprotein complex80
GO:0032991
IDA
Gene Ontologyprotein-containing complex29

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR001357BRCT domain
IPR001841Zinc finger, RING-type
IPR011364Breast cancer type 1 susceptibility protein (BRCA1)
IPR013083Zinc finger, RING/FYVE/PHD-type
IPR017907Zinc finger, RING-type, conserved site
IPR018957Zinc finger, C3HC4 RING-type
IPR025994BRCA1, serine-rich domain
IPR031099BRCA1-associated

No MapMan annotations defined for this gene.
KeggID Description
K10605BRCA1; breast cancer type 1 susceptibility protein
No chloroplast target sequence found.