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TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 [ Homo sapiens (human) ]

Gene ID: 63970, updated on 23-Nov-2021

Summary

Official Symbol
TP53AIP1provided by HGNC
Official Full Name
tumor protein p53 regulated apoptosis inducing protein 1provided by HGNC
Primary source
HGNC:HGNC:29984
See related
Ensembl:ENSG00000120471 MIM:605426
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
P53AIP1
Summary
This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Expression
Biased expression in skin (RPKM 6.8) and esophagus (RPKM 1.6) See more
Orthologs
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Genomic context

See TP53AIP1 in Genome Data Viewer
Location:
11q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (128934731..128944233, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128804626..128812766, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984409 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 5 Neighboring gene Rho GTPase activating protein 32 Neighboring gene RNA, U6 small nuclear 876, pseudogene Neighboring gene RNA, U6 small nuclear 874, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in apoptotic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
p53-regulated apoptosis-inducing protein 1

NCBI Reference Sequences (RefSeq)

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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_030401.1 RefSeqGene

    Range
    5001..13668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195194.1NP_001182123.1  p53-regulated apoptosis-inducing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001182123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. The 5' UTR of this variant is incomplete due to the lack of 5'-complete transcripts supporting this exon combination, and the presence of alternate splicing choices in the 5' UTR.
    Source sequence(s)
    AB045830, AY302135, DB129822
    Consensus CDS
    CCDS55798.1
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000432908.1, ENST00000530777.5
    Conserved Domains (1) summary
    pfam15338
    Location:2120
    TPIP1; p53-regulated apoptosis-inducing protein 1
  2. NM_001195195.2NP_001182124.1  p53-regulated apoptosis-inducing protein 1 isoform b

    See identical proteins and their annotated locations for NP_001182124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as beta) uses an alternate terminal exon and thereby differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AB045831, AI872153, AP000920
    Consensus CDS
    CCDS55797.1
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000390694.2, ENST00000458238.6
    Conserved Domains (1) summary
    pfam15338
    Location:284
    TPIP1; p53-regulated apoptosis-inducing protein 1
  3. NM_001251964.2NP_001238893.1  p53-regulated apoptosis-inducing protein 1 isoform d

    See identical proteins and their annotated locations for NP_001238893.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as gamma) differs at the 3' end compared to variant 1, and encodes a shorter isoform (d) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AB045832, AI924030, AP000920
    Consensus CDS
    CCDS58195.1
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000473353.1, ENST00000602346.5
    Conserved Domains (1) summary
    pfam15338
    Location:249
    TPIP1; p53-regulated apoptosis-inducing protein 1
  4. NM_022112.3NP_071395.2  p53-regulated apoptosis-inducing protein 1 isoform a

    See identical proteins and their annotated locations for NP_071395.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as alpha) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB045830
    Consensus CDS
    CCDS8480.2
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000432743.1, ENST00000531399.6
    Conserved Domains (1) summary
    pfam15338
    Location:2124
    TPIP1; p53-regulated apoptosis-inducing protein 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    128934731..128944233 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018117.1XP_016873606.1  p53-regulated apoptosis-inducing protein 1 isoform X5

  2. XM_017018114.1XP_016873603.1  p53-regulated apoptosis-inducing protein 1 isoform X2

  3. XM_017018113.1XP_016873602.1  p53-regulated apoptosis-inducing protein 1 isoform X1

  4. XM_017018116.1XP_016873605.1  p53-regulated apoptosis-inducing protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q9HCN2
    Conserved Domains (1) summary
    pfam15338
    Location:2124
    TPIP1; p53-regulated apoptosis-inducing protein 1
  5. XM_017018115.2XP_016873604.1  p53-regulated apoptosis-inducing protein 1 isoform X3

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