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CDKN2AIP CDKN2A interacting protein [ Homo sapiens (human) ]

Gene ID: 55602, updated on 5-Apr-2020

Summary

Official Symbol
CDKN2AIPprovided by HGNC
Official Full Name
CDKN2A interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:24325
See related
Ensembl:ENSG00000168564 MIM:615914
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
CARF
Summary
The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in testis (RPKM 11.6), bone marrow (RPKM 11.5) and 25 other tissues See more
Orthologs

Genomic context

See CDKN2AIP in Genome Data Viewer
Location:
4q35.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (183444636..183449064)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (184365788..184369348)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chimerin 1 pseudogene Neighboring gene fibrillarin pseudogene Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 2 Neighboring gene uncharacterized LOC389247

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20036

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
p53 binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
granular component IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
CDKN2A-interacting protein
Names
collaborates/cooperates with ARF (alternate reading frame) protein
collaborator of ARF

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_050671.1 RefSeqGene

    Range
    5002..9430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317343.2NP_001304272.1  CDKN2A-interacting protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA622329, AC112698, AF246705, AK000043, AK096180, CN427056
    Consensus CDS
    CCDS82979.1
    UniProtKB/Swiss-Prot
    Q9NXV6
    UniProtKB/TrEMBL
    B3KTW3, J3KNE1
    Related
    ENSP00000303788.4, ENST00000302350.4
    Conserved Domains (1) summary
    pfam11952
    Location:19124
    XTBD; XRN-Two Binding Domain, XTBD
  2. NM_017632.4NP_060102.1  CDKN2A-interacting protein isoform 1

    See identical proteins and their annotated locations for NP_060102.1

    Status: REVIEWED

    Source sequence(s)
    AA622329, AC112698, AF246705, AK000043
    Consensus CDS
    CCDS34110.1
    UniProtKB/Swiss-Prot
    Q9NXV6
    Related
    ENSP00000427108.1, ENST00000504169.2
    Conserved Domains (1) summary
    pfam11952
    Location:19124
    XTBD; XRN-Two Binding Domain, XTBD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    183444636..183449064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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