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Protein

BRCA2 and CDKN1A-interacting protein

Gene

BCCIP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May promote cell cycle arrest by enhancing the inhibition of CDK2 activity by CDKN1A. May be required for repair of DNA damage by homologous recombination in conjunction with BRCA2. May not be involved in non-homologous end joining (NHEJ).5 Publications

GO - Molecular functioni

  • kinase regulator activity Source: MGI
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • DNA repair Source: UniProtKB-KW
  • neuroendocrine cell differentiation Source: UniProtKB
  • regulation of cyclin-dependent protein serine/threonine kinase activity Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, DNA repair

Names & Taxonomyi

Protein namesi
Recommended name:
BRCA2 and CDKN1A-interacting protein
Alternative name(s):
P21- and CDK-associated protein 1
Protein TOK-1
Gene namesi
Name:BCCIP
Synonyms:TOK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:978. BCCIP.

Subcellular locationi

GO - Cellular componenti

  • nuclear cyclin-dependent protein kinase holoenzyme complex Source: MGI
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25290.

Polymorphism and mutation databases

BioMutaiBCCIP.
DMDMi74753124.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 314314BRCA2 and CDKN1A-interacting proteinPRO_0000249687Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei42 – 421PhosphoserineCombined sources
Modified residuei112 – 1121PhosphoserineCombined sources
Modified residuei281 – 2811PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P287.
MaxQBiQ9P287.
PaxDbiQ9P287.
PeptideAtlasiQ9P287.
PRIDEiQ9P287.

PTM databases

iPTMnetiQ9P287.
PhosphoSiteiQ9P287.

Expressioni

Tissue specificityi

Expressed at high levels in testis and skeletal muscle and at lower levels in brain, heart, kidney, liver, lung, ovary, pancreas, placenta, and spleen.2 Publications

Developmental stagei

Isoform 1 is expressed throughout the cell cycle. Isoform 2 is expressed following mitosis and peaks in the G1/S phase of the cell cycle.1 Publication

Gene expression databases

BgeeiENSG00000107949.
CleanExiHS_BCCIP.
GenevisibleiQ9P287. HS.

Interactioni

Subunit structurei

Interacts with BRCA2, CDKN1A and MTDH/LYRIC.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RPL23P628294EBI-711154,EBI-353303

Protein-protein interaction databases

BioGridi121161. 58 interactions.
IntActiQ9P287. 20 interactions.
MINTiMINT-3275575.
STRINGi9606.ENSP00000357748.

Structurei

3D structure databases

ProteinModelPortaliQ9P287.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni59 – 167109Interaction with BRCA2Add
BLAST
Regioni161 – 25999Interaction with CDKN1AAdd
BLAST

Sequence similaritiesi

Belongs to the BCP1 family.Curated

Phylogenomic databases

eggNOGiKOG3034. Eukaryota.
ENOG4111GYV. LUCA.
GeneTreeiENSGT00390000000696.
HOGENOMiHOG000047210.
HOVERGENiHBG054955.
InParanoidiQ9P287.
KOiK15262.
OMAiMFVNAEE.
OrthoDBiEOG091G0IXA.
PhylomeDBiQ9P287.
TreeFamiTF320301.

Family and domain databases

InterProiIPR025602. BCP1_family.
[Graphical view]
PANTHERiPTHR13261. PTHR13261. 1 hit.
PfamiPF13862. BCIP. 1 hit.
[Graphical view]
PIRSFiPIRSF028983. BCP1. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P287-1) [UniParc]FASTAAdd to basket
Also known as: Beta

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASRSKRRAV ESGVPQPPDP PVQRDEEEEK EVENEDEDDD DSDKEKDEED
60 70 80 90 100
EVIDEEVNIE FEAYSLSDND YDGIKKLLQQ LFLKAPVNTA ELTDLLIQQN
110 120 130 140 150
HIGSVIKQTD VSEDSNDDMD EDEVFGFISL LNLTERKGTQ CVEQIQELVL
160 170 180 190 200
RFCEKNCEKS MVEQLDKFLN DTTKPVGLLL SERFINVPPQ IALPMYQQLQ
210 220 230 240 250
KELAGAHRTN KPCGKCYFYL LISKTFVEAG KNNSKKKPSN KKKAALMFAN
260 270 280 290 300
AEEEFFYEKA ILKFNYSVQE ESDTCLGGKW SFDDVPMTPL RTVMLIPGDK
310
MNEIMDKLKE YLSV
Length:314
Mass (Da):35,979
Last modified:October 1, 2000 - v1
Checksum:i203CA32F7BE0A806
GO
Isoform 2 (identifier: Q9P287-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     259-314: KAILKFNYSV...MDKLKEYLSV → EQGKPEVLGG...TFMTVGIALS

Show »
Length:322
Mass (Da):36,215
Checksum:i09B96B373DE27F56
GO
Isoform 3 (identifier: Q9P287-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     285-314: VPMTPLRTVMLIPGDKMNEIMDKLKEYLSV → WSVPPVLE

Show »
Length:292
Mass (Da):33,442
Checksum:iD6EB060145DCEE1C
GO
Isoform 4 (identifier: Q9P287-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     259-314: KAILKFNYSV...MDKLKEYLSV → EQGKPEVLGGPDTRRGLEPVPIQHNGWSVPPVLE

Note: No experimental confirmation available.
Show »
Length:292
Mass (Da):33,242
Checksum:i2141E030CC72D464
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti75 – 751K → R in BAG51557 (PubMed:14702039).Curated
Sequence conflicti230 – 2301G → E in AAH09771 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti254 – 2541E → Q.
Corresponds to variant rs17153610 [ dbSNP | Ensembl ].
VAR_046642

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei259 – 31456KAILK…EYLSV → EQGKPEVLGGPDTRRGLEPV PIQHNGGSRGQVTALVSLKA GLIQSRSTLSDFQGTFMTVG IALS in isoform 2. 2 PublicationsVSP_020540Add
BLAST
Alternative sequencei259 – 31456KAILK…EYLSV → EQGKPEVLGGPDTRRGLEPV PIQHNGWSVPPVLE in isoform 4. 1 PublicationVSP_042023Add
BLAST
Alternative sequencei285 – 31430VPMTP…EYLSV → WSVPPVLE in isoform 3. 1 PublicationVSP_020541Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040450 mRNA. Translation: BAA92927.1.
AB040451 mRNA. Translation: BAA92928.1.
AY064247 Genomic DNA. Translation: AAL55436.1.
AY064247 Genomic DNA. Translation: AAL55438.1.
AY064248 mRNA. Translation: AAL55439.1.
AY064249 mRNA. Translation: AAL55440.1.
AK055691 mRNA. Translation: BAG51557.1.
AL834458 mRNA. Translation: CAD39118.1.
AL360176 Genomic DNA. Translation: CAI12091.1.
AL360176 Genomic DNA. Translation: CAI12092.1.
AL360176 Genomic DNA. Translation: CAI12093.1.
BC009771 mRNA. Translation: AAH09771.1.
CCDSiCCDS7649.1. [Q9P287-2]
CCDS7650.1. [Q9P287-4]
CCDS7651.1. [Q9P287-1]
RefSeqiNP_057651.1. NM_016567.3. [Q9P287-2]
NP_510868.1. NM_078468.2. [Q9P287-1]
NP_510869.1. NM_078469.2. [Q9P287-4]
UniGeneiHs.370292.
Hs.715543.

Genome annotation databases

EnsembliENST00000278100; ENSP00000278100; ENSG00000107949. [Q9P287-1]
ENST00000299130; ENSP00000299130; ENSG00000107949. [Q9P287-4]
ENST00000368759; ENSP00000357748; ENSG00000107949. [Q9P287-2]
GeneIDi56647.
KEGGihsa:56647.
UCSCiuc001ljb.5. human. [Q9P287-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040450 mRNA. Translation: BAA92927.1.
AB040451 mRNA. Translation: BAA92928.1.
AY064247 Genomic DNA. Translation: AAL55436.1.
AY064247 Genomic DNA. Translation: AAL55438.1.
AY064248 mRNA. Translation: AAL55439.1.
AY064249 mRNA. Translation: AAL55440.1.
AK055691 mRNA. Translation: BAG51557.1.
AL834458 mRNA. Translation: CAD39118.1.
AL360176 Genomic DNA. Translation: CAI12091.1.
AL360176 Genomic DNA. Translation: CAI12092.1.
AL360176 Genomic DNA. Translation: CAI12093.1.
BC009771 mRNA. Translation: AAH09771.1.
CCDSiCCDS7649.1. [Q9P287-2]
CCDS7650.1. [Q9P287-4]
CCDS7651.1. [Q9P287-1]
RefSeqiNP_057651.1. NM_016567.3. [Q9P287-2]
NP_510868.1. NM_078468.2. [Q9P287-1]
NP_510869.1. NM_078469.2. [Q9P287-4]
UniGeneiHs.370292.
Hs.715543.

3D structure databases

ProteinModelPortaliQ9P287.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121161. 58 interactions.
IntActiQ9P287. 20 interactions.
MINTiMINT-3275575.
STRINGi9606.ENSP00000357748.

PTM databases

iPTMnetiQ9P287.
PhosphoSiteiQ9P287.

Polymorphism and mutation databases

BioMutaiBCCIP.
DMDMi74753124.

Proteomic databases

EPDiQ9P287.
MaxQBiQ9P287.
PaxDbiQ9P287.
PeptideAtlasiQ9P287.
PRIDEiQ9P287.

Protocols and materials databases

DNASUi56647.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278100; ENSP00000278100; ENSG00000107949. [Q9P287-1]
ENST00000299130; ENSP00000299130; ENSG00000107949. [Q9P287-4]
ENST00000368759; ENSP00000357748; ENSG00000107949. [Q9P287-2]
GeneIDi56647.
KEGGihsa:56647.
UCSCiuc001ljb.5. human. [Q9P287-1]

Organism-specific databases

CTDi56647.
GeneCardsiBCCIP.
HGNCiHGNC:978. BCCIP.
MIMi611883. gene.
neXtProtiNX_Q9P287.
PharmGKBiPA25290.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3034. Eukaryota.
ENOG4111GYV. LUCA.
GeneTreeiENSGT00390000000696.
HOGENOMiHOG000047210.
HOVERGENiHBG054955.
InParanoidiQ9P287.
KOiK15262.
OMAiMFVNAEE.
OrthoDBiEOG091G0IXA.
PhylomeDBiQ9P287.
TreeFamiTF320301.

Miscellaneous databases

ChiTaRSiBCCIP. human.
GeneWikiiBCCIP.
GenomeRNAii56647.
PROiQ9P287.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107949.
CleanExiHS_BCCIP.
GenevisibleiQ9P287. HS.

Family and domain databases

InterProiIPR025602. BCP1_family.
[Graphical view]
PANTHERiPTHR13261. PTHR13261. 1 hit.
PfamiPF13862. BCIP. 1 hit.
[Graphical view]
PIRSFiPIRSF028983. BCP1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiBCCIP_HUMAN
AccessioniPrimary (citable) accession number: Q9P287
Secondary accession number(s): B3KP45
, Q8ND15, Q96GC4, Q9P288
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: October 1, 2000
Last modified: September 7, 2016
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

HT1080 cells that constitutively express low levels of BCCIP display increased levels of spontaneous single-stranded DNA and double-strand breaks.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.