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BRCA1 breast cancer 1, early onset [ Homo sapiens (human) ]

Gene ID: 672, updated on 17-Apr-2014
Official Symbol
BRCA1provided by HGNC
Official Full Name
breast cancer 1, early onsetprovided by HGNC
Primary source
HGNC:1100
See related
Ensembl:ENSG00000012048; HPRD:00218; MIM:113705; Vega:OTTHUMG00000157426
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
Also known as
IRIS; PSCP; BRCAI; BRCC1; PNCA4; RNF53; BROVCA1; PPP1R53
Summary
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
Location :
17q21
Sequence :
Chromosome: 17; NC_000017.11 (43044295..43125483, complement)
See BRCA1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene vesicle amine transport 1 Neighboring gene Rho family GTPase 2 Neighboring gene ribosomal protein L21 pseudogene 4 Neighboring gene neighbor of BRCA1 gene 2 (non-protein coding) Neighboring gene uncharacterized LOC101926920 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 29

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Replication interactions

Interaction Pubs
Knockdown of breast cancer 1, early onset (BRCA1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpr, p15 vpr HIV-1 Vpr stimulates the focus formation of Rad51 and BRCA1, which are involved in repair of DNA double-strand breaks (DSBs) by homologous recombination (HR) PubMed
vpr HIV-1 Vpr induces phosphorylation of BRCA1 at serine 1423 in an ATR-dependent manner PubMed
vpr HIV-1 Vpr expression in HeLa cells induces formation of nuclear foci containing H2AFX and BRCA1 PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
androgen receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
 
tubulin binding NAS
Non-traceable Author Statement
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ubiquitin-protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator TAS
Traceable Author Statement
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
G2 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
androgen receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cellular response to DNA damage stimulus TAS
Traceable Author Statement
more info
PubMed 
cellular response to indole-3-methanol IDA
Inferred from Direct Assay
more info
PubMed 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of centriole replication NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of histone H3-K9 methylation IDA
Inferred from Direct Assay
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell cycle arrest IDA
Inferred from Direct Assay
more info
 
positive regulation of histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
 
positive regulation of histone H3-K9 acetylation IDA
Inferred from Direct Assay
more info
 
positive regulation of histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
 
positive regulation of histone H4-K20 methylation IDA
Inferred from Direct Assay
more info
 
positive regulation of histone acetylation IDA
Inferred from Direct Assay
more info
 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
postreplication repair IDA
Inferred from Direct Assay
more info
PubMed 
protein K6-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
regulation of cell motility IDA
Inferred from Direct Assay
more info
 
regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase III promoter TAS
Traceable Author Statement
more info
PubMed 
response to estrogen IDA
Inferred from Direct Assay
more info
PubMed 
response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
 
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 
chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with filamentous actin IDA
Inferred from Direct Assay
more info
 
colocalizes_with focal adhesion IDA
Inferred from Direct Assay
more info
 
gamma-tubulin ring complex NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IDA
Inferred from Direct Assay
more info
 
ubiquitin ligase complex NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
breast cancer type 1 susceptibility protein
Names
breast cancer type 1 susceptibility protein
RING finger protein 53
BRCA1/BRCA2-containing complex, subunit 1
protein phosphatase 1, regulatory subunit 53
breast and ovarian cancer susceptibility protein 1
breast and ovarian cancer sususceptibility protein 1

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_005905.2 RefSeqGene

    Range
    92501..173689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_292

mRNA and Protein(s)

  1. NM_007294.3NP_009225.1  breast cancer type 1 susceptibility protein isoform 1

    See proteins identical to NP_009225.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as BRCA1a) represents the more frequently occurring transcript. It encodes the full-length BRCA1 protein (isoform 1), which is also known as p220.
    Source sequence(s)
    AL701927, BC072418, BU617173, BU679389, U14680
    Consensus CDS
    CCDS11453.1
    UniProtKB/Swiss-Prot
    P38398
    Related
    ENSP00000350283, OTTHUMP00000212143, ENST00000357654, OTTHUMT00000348798
    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16501724
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  2. NM_007297.3NP_009228.2  breast cancer type 1 susceptibility protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translational start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    BC072418, BU617173, BU679389, U14680
    Consensus CDS
    CCDS11459.2
    UniProtKB/TrEMBL
    E9PFZ0
    UniProtKB/Swiss-Prot
    P38398
    Related
    ENSP00000418775, OTTHUMP00000212148, ENST00000493795, OTTHUMT00000348803
    Conserved Domains (3) summary
    pfam12820
    Location:297460
    Blast Score: 893
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16031677
    Blast Score: 126
    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 ...
    pfam04873
    Location:601931
    Blast Score: 1388
    EIN3; Ethylene insensitive 3
  3. NM_007298.3NP_009229.2  breast cancer type 1 susceptibility protein isoform 4

    See proteins identical to NP_009229.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as BRCA1-delta11b) differs in the 5' UTR and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AL701927, BC072418, BU617173, BU679389, U64805
    Consensus CDS
    CCDS11454.2
    UniProtKB/Swiss-Prot
    P38398
    Related
    ENSP00000312236, ENST00000352993
    Conserved Domains (2) summary
    cd00027
    Location:546620
    Blast Score: 126
    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 ...
    cd00162
    Location:2368
    Blast Score: 142
    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 ...
  4. NM_007299.3NP_009230.2  breast cancer type 1 susceptibility protein isoform 5

    See proteins identical to NP_009230.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, uses two alternate in-frame splice sites in the central coding region, and lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC072418, BU617173, BU679389
    Consensus CDS
    CCDS11455.2
    UniProtKB/Swiss-Prot
    P38398
    Related
    ENSP00000417148, OTTHUMP00000212149, ENST00000468300, OTTHUMT00000348804
    Conserved Domains (2) summary
    cd00027
    Location:546620
    Blast Score: 127
    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 ...
    cd00162
    Location:2368
    Blast Score: 138
    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 ...
  5. NM_007300.3NP_009231.2  breast cancer type 1 susceptibility protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate in-frame exon and an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AC135721, AL701927, BC072418, BC115037, BU617173, BU679389, U14680
    Consensus CDS
    CCDS11456.2
    UniProtKB/TrEMBL
    E9PFC7
    UniProtKB/Swiss-Prot
    P38398
    UniProtKB/TrEMBL
    Q1RMC1
    Related
    ENSP00000418960, OTTHUMP00000212147, ENST00000471181, OTTHUMT00000348802
    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16711745
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1389
    EIN3; Ethylene insensitive 3

RNA

  1. NR_027676.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) includes an alternate 5' exon and alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF005068, AK308084, BC072418, BU617173, BU679389, U14680

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11

    Range
    43044295..43125483, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722029.1XP_006722092.1  

    See proteins identical to XP_006722092.1

    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16501724
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  2. XM_006722031.1XP_006722094.1  

    See proteins identical to XP_006722094.1

    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16501724
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  3. XM_006722035.1XP_006722098.1  

    Conserved Domains (3) summary
    pfam12820
    Location:274437
    Blast Score: 894
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:15801654
    Blast Score: 126
    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 ...
    pfam04873
    Location:578908
    Blast Score: 1389
    EIN3; Ethylene insensitive 3
  4. XM_006722039.1XP_006722102.1  

    See proteins identical to XP_006722102.1

    Conserved Domains (2) summary
    cd00027
    Location:546620
    Blast Score: 126
    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 ...
    cd00162
    Location:2368
    Blast Score: 142
    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 ...
  5. XM_006722041.1XP_006722104.1  

    Conserved Domains (4) summary
    TIGR00599
    Location:22226
    Blast Score: 126
    rad18; DNA repair protein rad18
    cd00027
    Location:505579
    Blast Score: 126
    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 ...
    cd00162
    Location:2368
    Blast Score: 141
    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 ...
    pfam01271
    Location:131433
    Blast Score: 91
    Granin; Granin (chromogranin or secretogranin)
  6. XM_006722038.1XP_006722101.1  

    See proteins identical to XP_006722101.1

    Conserved Domains (2) summary
    cd00027
    Location:546620
    Blast Score: 126
    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 ...
    cd00162
    Location:2368
    Blast Score: 142
    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 ...
  7. XM_006722032.1XP_006722095.1  

    Conserved Domains (4) summary
    pfam12820
    Location:343506
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16491723
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:647977
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  8. XM_006722040.1XP_006722103.1  

    See proteins identical to XP_006722103.1

    Conserved Domains (2) summary
    cd00027
    Location:546620
    Blast Score: 126
    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 ...
    cd00162
    Location:2368
    Blast Score: 142
    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 ...
  9. XM_006722037.1XP_006722100.1  

    Conserved Domains (2) summary
    cd00027
    Location:547621
    Blast Score: 126
    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 ...
    cd00162
    Location:2368
    Blast Score: 142
    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 ...
  10. XM_006722034.1XP_006722097.1  

    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16491723
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  11. XM_006722033.1XP_006722096.1  

    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16491723
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  12. XM_006722030.1XP_006722093.1  

    See proteins identical to XP_006722093.1

    Conserved Domains (4) summary
    pfam12820
    Location:344507
    Blast Score: 895
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:16501724
    Blast Score: 125
    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 ...
    cd00162
    Location:2368
    Blast Score: 144
    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 ...
    pfam04873
    Location:648978
    Blast Score: 1390
    EIN3; Ethylene insensitive 3
  13. XM_006722036.1XP_006722099.1  

    Conserved Domains (3) summary
    pfam12820
    Location:217380
    Blast Score: 892
    BRCT_assoc; Serine-rich domain associated with BRCT
    cd00027
    Location:15231597
    Blast Score: 126
    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 ...
    pfam04873
    Location:521851
    Blast Score: 1388
    EIN3; Ethylene insensitive 3

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    36962663..37043809, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    41431851..41513018, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_007295.2: Suppressed sequence

    Description
    NM_007295.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
  2. NM_007296.2: Suppressed sequence

    Description
    NM_007296.2: This RefSeq was permanently suppressed because there is no full-length transcript support for the exon combination of this variant.
  3. NM_007301.2: Suppressed sequence

    Description
    NM_007301.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  4. NM_007302.2: Suppressed sequence

    Description
    NM_007302.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
  5. NM_007303.2: Suppressed sequence

    Description
    NM_007303.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
  6. NM_007305.2: Suppressed sequence

    Description
    NM_007305.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
  7. NM_007306.2: Suppressed sequence

    Description
    NM_007306.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

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