BRCA1 BRCA1 DNA repair associated [Sus scrofa (pig)] - Gene

Summary

Official Symbol: BRCA1provided by VGNC
Official Full Name: BRCA1 DNA repair associatedprovided by VGNC
Primary source: VGNC:VGNC:85869
See related: Ensembl:ENSSSCG00000022101
Gene type: protein coding
RefSeq status: MODEL
Organism: Sus scrofa
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus
Expression: Ubiquitous expression in ovary (RPKM 5.2), spleen (RPKM 2.9) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 12

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
106	current	Sscrofa11.1 (GCF_000003025.6)	12	NC_010454.4 (19788087..19854515)
105	previous assembly	Sscrofa10.2 (GCF_000003025.5)	12	NC_010454.3 (20028878..20093800, complement)

Chromosome 12 - NC_010454.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Transcriptome data used for gene annotation
Description: Nine kinds of tissues and a mixture of multiple tissues were sequenced for genome annotation
BioProject: PRJNA311523
Publication: PMID 27646534
Analysis date: Thu Dec 14 17:10:49 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Consensus-based recombinant adeno-associated virus-BRCA1 knock out virus vectors failed to induce BRCA1 knockout in Gottingen fibroblasts.
Title: Pig gene knockout by rAAV-mediated homologous recombination: comparison of BRCA1 gene knockout efficiency in Yucatan and Göttingen fibroblasts with slightly different target sequences.

Submit: New GeneRIF Correction

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info	PubMed
enables ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in chordate embryonic development	IEA Inferred from Electronic Annotation more info	PubMed
involved_in dosage compensation by inactivation of X chromosome	IEA Inferred from Electronic Annotation more info	PubMed
involved_in double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info	PubMed
involved_in negative regulation of fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IEA Inferred from Electronic Annotation more info	PubMed
part_of BRCA1-BARD1 complex	IEA Inferred from Electronic Annotation more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: breast cancer type 1 susceptibility protein

Names: BRCA1 homologue; breast cancer type 1 susceptibility protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Sus scrofa Annotation Release 106 details...

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

Reference Sscrofa11.1 Primary Assembly

Genomic

NC_010454.4 Reference Sscrofa11.1 Primary Assembly

Range

19788087..19854515

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021066931.1 → XP_020922590.1 breast cancer type 1 susceptibility protein isoform X11

Conserved Domains (4) summary

smart00292
Location:887 → 971

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:779 → 852

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 143

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066926.1 → XP_020922585.1 breast cancer type 1 susceptibility protein isoform X6

UniProtKB/TrEMBL

A0A8D1CL78, A5A751

Conserved Domains (5) summary

smart00292
Location:1754 → 1838

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1646 → 1719

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:340 → 502

BRCT_assoc; Serine-rich domain associated with BRCT

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 154

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066924.1 → XP_020922583.1 breast cancer type 1 susceptibility protein isoform X1

UniProtKB/TrEMBL

A0A8D1GVW7

Conserved Domains (5) summary

smart00292
Location:1777 → 1861

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1669 → 1742

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:341 → 503

BRCT_assoc; Serine-rich domain associated with BRCT

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 143

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_005656956.3 → XP_005657013.1 breast cancer type 1 susceptibility protein isoform X1

UniProtKB/TrEMBL

A0A8D1GVW7

Conserved Domains (5) summary

smart00292
Location:1777 → 1861

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1669 → 1742

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:341 → 503

BRCT_assoc; Serine-rich domain associated with BRCT

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 143

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_013989935.2 → XP_013845389.1 breast cancer type 1 susceptibility protein isoform X3

UniProtKB/TrEMBL

A0A480QTG2, A0A4X1TRD4, A5A751

Conserved Domains (4) summary

smart00292
Location:1756 → 1840

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:1648 → 1722

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:23 → 68

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 ...

pfam12820
Location:341 → 503

BRCT_assoc; Serine-rich domain associated with BRCT
XM_005656957.3 → XP_005657014.1 breast cancer type 1 susceptibility protein isoform X4

UniProtKB/TrEMBL

A5A751

Related

ENSSSCP00000034439.2, ENSSSCT00000057335.3

Conserved Domains (4) summary

smart00292
Location:1755 → 1839

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:1647 → 1721

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:23 → 68

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 ...

pfam12820
Location:341 → 503

BRCT_assoc; Serine-rich domain associated with BRCT
XM_021066930.1 → XP_020922589.1 breast cancer type 1 susceptibility protein isoform X10

Conserved Domains (4) summary

smart00292
Location:909 → 993

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:801 → 874

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 143

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066934.1 → XP_020922593.1 breast cancer type 1 susceptibility protein isoform X14

UniProtKB/TrEMBL

A0A4X1TWA0

Conserved Domains (4) summary

smart00292
Location:672 → 756

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:564 → 637

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 143

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_003358030.4 → XP_003358078.1 breast cancer type 1 susceptibility protein isoform X15

UniProtKB/TrEMBL

A0A4X1TWA0

Related

ENSSSCP00000062168.2, ENSSSCT00000072693.2

Conserved Domains (3) summary

smart00292
Location:650 → 734

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:542 → 616

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:23 → 68

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 ...
XM_021066925.1 → XP_020922584.1 breast cancer type 1 susceptibility protein isoform X2

UniProtKB/TrEMBL

A0A8D0SKA6, A0A8D1GVW7

Conserved Domains (5) summary

smart00292
Location:1776 → 1860

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1668 → 1741

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:340 → 502

BRCT_assoc; Serine-rich domain associated with BRCT

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 154

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_005656958.3 → XP_005657015.1 breast cancer type 1 susceptibility protein isoform X5

UniProtKB/TrEMBL

A5A751

Conserved Domains (4) summary

smart00292
Location:1755 → 1839

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:1647 → 1721

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:23 → 68

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 ...

pfam12820
Location:340 → 502

BRCT_assoc; Serine-rich domain associated with BRCT
XM_021066932.1 → XP_020922591.1 breast cancer type 1 susceptibility protein isoform X12

Conserved Domains (4) summary

smart00292
Location:887 → 971

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:779 → 852

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 154

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066933.1 → XP_020922592.1 breast cancer type 1 susceptibility protein isoform X13

UniProtKB/TrEMBL

A0A5G2QDI7

Related

ENSSSCP00000062687.2, ENSSSCT00000089712.2

Conserved Domains (4) summary

smart00292
Location:886 → 970

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:778 → 851

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 154

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066935.1 → XP_020922594.1 breast cancer type 1 susceptibility protein isoform X16

UniProtKB/TrEMBL

A0A4X1TWA0

Conserved Domains (4) summary

smart00292
Location:650 → 734

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:542 → 615

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 154

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066936.1 → XP_020922595.1 breast cancer type 1 susceptibility protein isoform X17

UniProtKB/TrEMBL

A0A4X1TWA0

Related

ENSSSCP00000065183.2, ENSSSCT00000077890.2

Conserved Domains (4) summary

smart00292
Location:649 → 733

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:541 → 614

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cl28410
Location:15 → 154

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
XM_021066928.1 → XP_020922587.1 breast cancer type 1 susceptibility protein isoform X8

UniProtKB/TrEMBL

A0A287AR43

Related

ENSSSCP00000046543.3, ENSSSCT00000065760.3

Conserved Domains (4) summary

smart00292
Location:1718 → 1802

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1610 → 1683

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:304 → 466

BRCT_assoc; Serine-rich domain associated with BRCT

cl17238
Location:8 → 28

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_021066929.1 → XP_020922588.1 breast cancer type 1 susceptibility protein isoform X9

UniProtKB/TrEMBL

A0A287AR43

Conserved Domains (4) summary

smart00292
Location:1717 → 1801

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1609 → 1682

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:303 → 465

BRCT_assoc; Serine-rich domain associated with BRCT

cl17238
Location:8 → 28

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_021066927.1 → XP_020922586.1 breast cancer type 1 susceptibility protein isoform X7

UniProtKB/TrEMBL

A0A287AR43

Conserved Domains (4) summary

smart00292
Location:1740 → 1824

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:1632 → 1705

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:304 → 466

BRCT_assoc; Serine-rich domain associated with BRCT

cl17238
Location:8 → 28

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain