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BARD1 BRCA1 associated RING domain 1 [ Homo sapiens (human) ]

Gene ID: 580, updated on 12-Aug-2018

Summary

Official Symbol
BARD1provided by HGNC
Official Full Name
BRCA1 associated RING domain 1provided by HGNC
Primary source
HGNC:HGNC:952
See related
Ensembl:ENSG00000138376 MIM:601593; Vega:OTTHUMG00000133016
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Expression
Broad expression in testis (RPKM 4.0), bone marrow (RPKM 3.8) and 24 other tissues See more
Orthologs

Genomic context

See BARD1 in Genome Data Viewer
Location:
2q35
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (214725645..214809711, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215590370..215674428, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene von Willebrand factor C domain containing 2 like Neighboring gene VWC2L intronic transcript 1 Neighboring gene endosulfine alpha pseudogene 3 Neighboring gene uncharacterized LOC101928103 Neighboring gene small nucleolar RNA, H/ACA box 70I Neighboring gene ribosomal protein L10 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
NHGRI GWA Catalog
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
NHGRI GWA Catalog
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of BRCA1 associated RING domain 1 (BARD1) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    BARD1 signaling events, organism-specific biosystem
    BARD1 signaling events
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Cancer Pathway, organism-specific biosystem
    Integrated Cancer Pathway
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Metalloprotease DUBs, organism-specific biosystem (from REACTOME)
    Metalloprotease DUBs, organism-specific biosystemThe JAB1/MPN +/MOV34 (JAMM) domain metalloproteases cleave the isopeptide bond at or near the the attachment point of polyubiquitin and substrate. PSMD14 (RPN11), STAMBP (AMSH), STAMBPL1 (AMSH-LP), a...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
  • Retinoblastoma (RB) in Cancer, organism-specific biosystem (from WikiPathways)
    Retinoblastoma (RB) in Cancer, organism-specific biosystemDescribes the role of retinoblastoma (RB) gene in cancer.
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • UCH proteinases, organism-specific biosystem (from REACTOME)
    UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase binding NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing TAS
Traceable Author Statement
more info
 
DNA replication TAS
Traceable Author Statement
more info
 
cell cycle arrest NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to DNA damage stimulus NAS
Non-traceable Author Statement
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mRNA 3'-end processing NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of protein export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
protein K6-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination NAS
Non-traceable Author Statement
more info
PubMed 
regulation of phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
tissue homeostasis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
BRCA1-A complex IDA
Inferred from Direct Assay
more info
PubMed 
BRCA1-BARD1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin ligase complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
BRCA1-associated RING domain protein 1
Names
BRCA1-associated RING domain gene 1
RING-type E3 ubiquitin transferase BARD1
NP_000456.2
NP_001269472.1
NP_001269474.1
NP_001269477.1
NP_001269478.1
XP_016860102.1
XP_016860103.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012047.2 RefSeqGene

    Range
    5001..86167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000465.3NP_000456.2  BRCA1-associated RING domain protein 1 isoform 1

    See identical proteins and their annotated locations for NP_000456.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC016708, BC126426, BC126428, BU753556, BX098964, DB088853
    Consensus CDS
    CCDS2397.1
    UniProtKB/Swiss-Prot
    Q99728
    UniProtKB/TrEMBL
    A0AVN2
    Related
    ENSP00000260947.4, OTTHUMP00000163973, ENST00000260947.8, OTTHUMT00000256602
    Conserved Domains (6) summary
    smart00292
    Location:669767
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:568641
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    cd00204
    Location:424544
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:432524
    Ank_2; Ankyrin repeats (3 copies)
    pfam14835
    Location:41105
    zf-RING_6; zf-RING of BARD1-type protein
    sd00045
    Location:427458
    ANK; ANK repeat [structural motif]
  2. NM_001282543.1NP_001269472.1  BRCA1-associated RING domain protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2, also known as alpha) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790280
    Consensus CDS
    CCDS74646.1
    UniProtKB/Swiss-Prot
    Q99728
    UniProtKB/TrEMBL
    A0AVN2
    Related
    ENSP00000480470.1, ENST00000617164.4
    Conserved Domains (6) summary
    smart00292
    Location:650748
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:549622
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    cd00204
    Location:405525
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:413505
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:408439
    ANK; ANK repeat [structural motif]
    cl17238
    Location:4186
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  3. NM_001282545.1NP_001269474.1  BRCA1-associated RING domain protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks four consecutive exons in the coding region, compared to variant 1. The resulting isoform (3, also known as phi) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BU753556, DB088853, JF790283
    Consensus CDS
    CCDS74647.1
    UniProtKB/TrEMBL
    A0A087X2H0, F6MDI0
    Related
    ENSP00000484976.1, ENST00000613706.4
    Conserved Domains (3) summary
    smart00292
    Location:218316
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:117190
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    cl17238
    Location:4173
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  4. NM_001282548.1NP_001269477.1  BRCA1-associated RING domain protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001269477.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks five consecutive exons in the coding region, compared to variant 1. The resulting isoform (4, also known as delta) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BU753556, DB088853, JF790284
    Consensus CDS
    CCDS74645.1
    UniProtKB/TrEMBL
    F6MDI1
    Related
    ENSP00000484464.1, ENST00000613374.4
    Conserved Domains (2) summary
    smart00292
    Location:199297
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:98171
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
  5. NM_001282549.1NP_001269478.1  BRCA1-associated RING domain protein 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) six consecutively exons in the coding region, compared to variant 1. The resulting isoform (5, also known as epsilon) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BU753556, DB088853, JF790285
    Consensus CDS
    CCDS74648.1
    UniProtKB/TrEMBL
    A0A087WZ19, F6MDI2
    Related
    ENSP00000482293.1, ENST00000619009.4
    Conserved Domains (2) summary
    smart00292
    Location:156254
    BRCT; breast cancer carboxy-terminal domain
    pfam14835
    Location:41105
    zf-RING_6; zf-RING of BARD1-type protein

RNA

  1. NR_104212.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016708, AK301843, AK314260, BC126426, BU753556, BX098964, DB088853
  2. NR_104215.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two consecutive exons in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790281
  3. NR_104216.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016708, BC126428, BU753556, BX098964, DB088853, JF790282

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    214725645..214809711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004613.1XP_016860102.1  BRCA1-associated RING domain protein 1 isoform X1

  2. XM_017004614.1XP_016860103.1  BRCA1-associated RING domain protein 1 isoform X2

RNA

  1. XR_002959322.1 RNA Sequence

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