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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-045826
UUCD1 version UUC-HoS-00327
Ensembl Protein ID ENSP00000260947.4
UniProt Accession Q99728; F6MDH7; F6MDH8; F6MDH9; O43574; Q53SS5; BARD1_HUMAN
Genbank Protein ID AAB38316.1; AAB99978.1; AAB99978.1; AAB99978.1; AAB99978.1; AAB99978.1; AAB99978.1; AAB99978.1; AAB99978.1; AAB99978.1; AEF57471.1; AEF57472.1; AEF57473.1; AAX93130.1; AAI26427.1
Protein Name BRCA1-associated RING domain protein 1; RING-type E3 ubiquitin transferase BARD1
Genbank Nucleotide ID U76638; AF038042; AF038034; AF038035; AF038036; AF038037; AF038038; AF038039; AF038040; AF038041; JF790280; JF790281; JF790282; AC016708; BC126426
Gene Name BARD1
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000138376.10 ENST00000260947.8 ENSP00000260947.4
ENSG00000138376.10 ENST00000432456.5 ENSP00000405020.2
ENSG00000138376.10 ENST00000455743.5 ENSP00000412186.1
ENSG00000138376.10 ENST00000619009.4 ENSP00000482293.1
ENSG00000138376.10 ENST00000617164.4 ENSP00000480470.1
ENSG00000138376.10 ENST00000613374.4 ENSP00000484464.1
ENSG00000138376.10 ENST00000613706.4 ENSP00000484976.1
ENSG00000138376.10 ENST00000613192.1 ENSP00000483275.1
ENSG00000138376.10 ENST00000620057.4 ENSP00000481988.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDBSCOP
Disease-associated Information
ClinVarGWASdbGWAS CentralOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosSNPPhosphositePlus
dbPTMHPRDPhospho.ELMUniProt
BioGRIDmUbiSiDa
DNA Methylation
MethyCancerTCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/RING RING 19176389; 25131202; 25355358
Reviewed
Classification
Family Identity E-value Score Source Orthology
E3 activity/RING/RING 33.33 3.00e-22 104.00 IUUC-Ath-006986
Organism Homo sapiens
Functional Description
(View)

Functional Description


     E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.
 E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.
Protein Sequence
(Fasta)
MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP 60
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL 120
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Protein Fasta Sequence


>IUUC-Hsa-045826|E3,RING|Homo sapiens
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Nucleotide Sequence
(Fasta)
CCCCGCCCCT CTGGCGGCCC GCCGTCCCAG ACGCGGGAAG AGCTTGGCCG GTTTCGAGTC 60
GCTGGCCTGC AGCTTCCCTG TGGTTTCCCG AGGCTTCCTT GCTTCCCGCT CTGCGAGGAG 120
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Nucleotide Fasta Sequence


>IUUC-Hsa-045826|E3,RING|Homo sapiens
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Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0040--ANK repeat
KW-0181--Complete proteome
KW-0227--DNA damage
KW-0234--DNA repair
KW-1017--Isopeptide bond
KW-0479--Metal-binding
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0808--Transferase
KW-0832--Ubl conjugation
KW-0833--Ubl conjugation pathway
KW-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR002110--Ankyrin_rpt
IPR020683--Ankyrin_rpt-contain_dom
IPR033097--BARD1
IPR001357--BRCT_dom
IPR001841--Znf_RING
IPR013083--Znf_RING/FYVE/PHD
IPR017907--Znf_RING_CS
PROSITE

PS50297--ANK_REP_REGION
PS50088--ANK_REPEAT
PS50172--BRCT
PS00518--ZF_RING_1
PS50089--ZF_RING_2
Pfam

PF12796--Ank_2
PRINTS

PR01415--ANKYRIN
SMART

SM00248--ANK
SM00292--BRCT
Gene Ontology

GO:0070531--C:BRCA1-A complex
GO:0031436--C:BRCA1-BARD1 complex
GO:0005737--C:cytoplasm
GO:0016607--C:nuclear speck
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0000932--C:P-body
GO:0000151--C:ubiquitin ligase complex
GO:0019900--F:kinase binding
GO:0046982--F:protein heterodimerization activity
GO:0042803--F:protein homodimerization activity
GO:0003723--F:RNA binding
GO:0004842--F:ubiquitin-protein transferase activity
GO:0008270--F:zinc ion binding
GO:0007050--P:cell cycle arrest
GO:0006974--P:cellular response to DNA damage stimulus
GO:0000729--P:DNA double-strand break processing
GO:0006260--P:DNA replication
GO:0000731--P:DNA synthesis involved in DNA repair
GO:0006303--P:double-strand break repair via nonhomologous end joining
GO:0043066--P:negative regulation of apoptotic process
GO:0031441--P:negative regulation of mRNA 3'-end processing
GO:0046826--P:negative regulation of protein export from nucleus
GO:0043065--P:positive regulation of apoptotic process
GO:0045732--P:positive regulation of protein catabolic process
GO:0016579--P:protein deubiquitination
GO:0085020--P:protein K6-linked ubiquitination
GO:0016567--P:protein ubiquitination
GO:0042325--P:regulation of phosphorylation
GO:1901796--P:regulation of signal transduction by p53 class mediator
GO:0000732--P:strand displacement
GO:0001894--P:tissue homeostasis
KEGG hsa:580
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Ata-000225 Aegilops tauschii 36.05 8.00e-20 92.80
IUUC-Aml-002346 Ailuropoda melanoleuca 82.81 0.00e+00 1145.00
IUUC-Atr-002625 Amborella trichopoda 30.80 3.00e-21 97.80
IUUC-Apl-004108 Anas platyrhynchos 51.52 0.00e+00 635.00
IUUC-Aca-005387 Anolis carolinensis 48.02 0.00e+00 680.00
IUUC-Ath-006986 Arabidopsis thaliana 37.50 3.00e-23 104.00
IUUC-Ame-011716 Astyanax mexicanus 54.55 4.00e-61 229.00
IUUC-Bta-013417 Bos taurus 83.31 0.00e+00 1179.00
IUUC-Bdi-014760 Brachypodium distachyon 32.42 6.00e-22 100.00
IUUC-Bol-016476 Brassica oleracea 37.75 3.00e-20 94.40
IUUC-Bra-017176 Brassica rapa 36.47 2.00e-23 104.00
IUUC-Cel-018312 Caenorhabditis elegans 25.65 1.00e-13 72.00
IUUC-Cja-019415 Callithrix jacchus 91.66 0.00e+00 1415.00
IUUC-Cfa-020351 Canis familiaris 81.94 0.00e+00 1051.00
IUUC-Cpo-021746 Cavia porcellus 74.45 0.00e+00 1087.00
IUUC-Csa-023450 Chlorocebus sabaeus 95.62 0.00e+00 1393.00
IUUC-Csv-025987 Ciona savignyi 37.13 5.00e-55 208.00
IUUC-Dno-029038 Dasypus novemcinctus 71.41 0.00e+00 994.00
IUUC-Dor-030826 Dipodomys ordii 74.83 0.00e+00 992.00
IUUC-Ete-033061 Echinops telfairi 71.81 0.00e+00 1018.00
IUUC-Eca-033710 Equus caballus 83.08 0.00e+00 861.00
IUUC-Eeu-035266 Erinaceus europaeus 66.61 0.00e+00 695.00
IUUC-Fca-035414 Felis catus 83.89 0.00e+00 1229.00
IUUC-Fal-037357 Ficedula albicollis 50.34 0.00e+00 685.00
IUUC-Gga-040255 Gallus gallus 53.37 0.00e+00 697.00
IUUC-Gma-044372 Glycine max 37.77 1.00e-20 96.30
IUUC-Ggo-045300 Gorilla gorilla 99.10 0.00e+00 1511.00
IUUC-Itr-048456 Ictidomys tridecemlineatus 82.60 0.00e+00 1168.00
IUUC-Lch-050674 Latimeria chalumnae 47.96 5.00e-171 594.00
IUUC-Lpe-050895 Leersia perrieri 36.73 3.00e-20 94.40
IUUC-Laf-054591 Loxodonta africana 81.55 0.00e+00 1174.00
IUUC-Mcc-055017 Macaca mulatta 90.35 0.00e+00 1301.00
IUUC-Mtr-058400 Medicago truncatula 40.24 6.00e-25 110.00
IUUC-Mga-059484 Meleagris gallopavo 50.66 0.00e+00 652.00
IUUC-Mmr-061544 Microcebus murinus 84.04 0.00e+00 1266.00
IUUC-Mdo-062408 Monodelphis domestica 60.05 0.00e+00 829.00
IUUC-Mmu-064203 Mus musculus 70.25 0.00e+00 1023.00
IUUC-Mac-065131 Musa acuminata 28.96 3.00e-19 91.30
IUUC-Mpu-066899 Mustela putorius furo 81.68 0.00e+00 1142.00
IUUC-Mlu-067781 Myotis lucifugus 78.12 0.00e+00 1063.00
IUUC-Nle-069031 Nomascus leucogenys 97.81 0.00e+00 1494.00
IUUC-Opr-070889 Ochotona princeps 72.78 0.00e+00 639.00
IUUC-Ont-072557 Oreochromis niloticus 51.10 4.00e-111 395.00
IUUC-Ocu-074785 Oryctolagus cuniculus 78.97 0.00e+00 1142.00
IUUC-Oba-075953 Oryza barthii 37.93 9.00e-20 92.00
IUUC-Obr-076308 Oryza brachyantha 38.78 3.00e-21 97.80
IUUC-Ogl-076938 Oryza glaberrima 37.93 9.00e-20 92.00
IUUC-Ogu-078659 Oryza glumaepatula 40.35 4.00e-16 80.50
IUUC-Oin-079086 Oryza indica 40.35 4.00e-16 80.50
IUUC-Olo-080264 Oryza longistaminata 40.35 4.00e-16 81.30
IUUC-Ome-081445 Oryza meridionalis 30.32 2.00e-16 82.00
IUUC-Oni-082364 Oryza nivara 37.93 9.00e-20 92.00
IUUC-Opu-083700 Oryza punctata 38.10 1.00e-20 95.90
IUUC-Oru-085093 Oryza rufipogon 40.35 4.00e-16 80.50
IUUC-Osa-085434 Oryza sativa 37.93 1.00e-19 92.00
IUUC-Olu-087823 Ostreococcus lucimarinus 37.10 3.00e-18 83.60
IUUC-Oga-088383 Otolemur garnettii 75.35 0.00e+00 1001.00
IUUC-Oar-089357 Ovis aries 82.66 0.00e+00 1259.00
IUUC-Ptr-090959 Pan troglodytes 99.49 0.00e+00 1484.00
IUUC-Pan-092160 Papio anubis 95.11 0.00e+00 1406.00
IUUC-Psi-093036 Pelodiscus sinensis 52.56 6.00e-179 620.00
IUUC-Pab-098198 Pongo abelii 96.14 0.00e+00 1373.00
IUUC-Pop-099956 Populus trichocarpa 37.84 4.00e-22 100.00
IUUC-Ppe-101676 Prunus persica 45.45 1.00e-21 99.00
IUUC-Pva-102243 Pteropus vampyrus 84.48 0.00e+00 1238.00
IUUC-Rno-104832 Rattus norvegicus 68.78 0.00e+00 954.00
IUUC-Sha-107601 Sarcophilus harrisii 58.95 0.00e+00 789.00
IUUC-Sit-110609 Setaria italica 34.69 1.00e-18 89.00
IUUC-Sly-111863 Solanum lycopersicum 29.82 2.00e-20 94.70
IUUC-Stu-112154 Solanum tuberosum 30.74 1.00e-19 92.00
IUUC-Sar-113493 Sorex araneus 67.65 5.00e-73 268.00
IUUC-Sbi-114470 Sorghum bicolor 36.73 4.00e-20 94.00
IUUC-Ssc-115611 Sus scrofa 81.06 0.00e+00 1218.00
IUUC-Tgu-116812 Taeniopygia guttata 51.63 0.00e+00 723.00
IUUC-Tru-117996 Takifugu rubripes 37.36 2.00e-122 432.00
IUUC-Tsy-119446 Tarsius syrichta 68.51 0.00e+00 976.00
IUUC-Tni-120842 Tetraodon nigroviridis 39.01 2.00e-135 476.00
IUUC-Tca-121417 Theobroma cacao 38.51 4.00e-22 100.00
IUUC-Tae-124838 Triticum aestivum 30.17 2.00e-20 95.10
IUUC-Tur-126725 Triticum urartu 30.17 1.00e-20 95.90
IUUC-Tbe-127550 Tupaia belangeri 71.71 0.00e+00 996.00
IUUC-Ttr-128364 Tursiops truncatus 83.05 0.00e+00 1128.00
IUUC-Vpa-130659 Vicugna pacos 80.37 0.00e+00 999.00
IUUC-Vvi-131586 Vitis vinifera 37.91 2.00e-11 66.20
IUUC-Xtr-131846 Xenopus tropicalis 46.54 0.00e+00 629.00
Created Date 25-Jun-2017

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