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

    Gene ID: 63970, updated on 14-Nov-2024

    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; AllianceGenome:HGNC:29984
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TP53AIP1 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128934731..128942871, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128969657..128977797, complement)
    RS_2024_09 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 Sharpr-MPRA regulatory region 11395 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128740730-128741492 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128741942-128742537 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128771525-128772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4065 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128796283-128797283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5746 Neighboring gene potassium inwardly rectifying channel subfamily J member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808070-128808570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808571-128809071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128810609-128811109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128840383-128840884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128840885-128841384 Neighboring gene Rho GTPase activating protein 32 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:128868598-128869797 Neighboring gene RNA, U6 small nuclear 876, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:128931012-128932211 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:129012637-129013836 Neighboring gene RNA, U6 small nuclear 874, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 

    General protein information

    Preferred Names
    p53-regulated apoptosis-inducing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5529..13030
      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/TrEMBL
      B2RAP8
      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
      Q6NT40, Q7Z6F7, Q9HCN0, Q9HCN1, Q9HCN2
      Related
      ENSP00000432743.1, ENST00000531399.6
      Conserved Domains (1) summary
      pfam15338
      Location:2124
      TPIP1; p53-regulated apoptosis-inducing protein 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      128934731..128942871 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018117.2XP_016873606.1  p53-regulated apoptosis-inducing protein 1 isoform X5

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

    3. XM_017018113.2XP_016873602.1  p53-regulated apoptosis-inducing protein 1 isoform X1

    4. XM_017018116.2XP_016873605.1  p53-regulated apoptosis-inducing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6NT40, Q7Z6F7, Q9HCN0, Q9HCN1, Q9HCN2
      Conserved Domains (1) summary
      pfam15338
      Location:2124
      TPIP1; p53-regulated apoptosis-inducing protein 1
    5. XM_047427398.1XP_047283354.1  p53-regulated apoptosis-inducing protein 1 isoform X6

    6. XM_017018115.3XP_016873604.1  p53-regulated apoptosis-inducing protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      128969657..128977797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369620.1XP_054225595.1  p53-regulated apoptosis-inducing protein 1 isoform X5

    2. XM_054369617.1XP_054225592.1  p53-regulated apoptosis-inducing protein 1 isoform X2

    3. XM_054369616.1XP_054225591.1  p53-regulated apoptosis-inducing protein 1 isoform X1

    4. XM_054369619.1XP_054225594.1  p53-regulated apoptosis-inducing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6NT40, Q7Z6F7, Q9HCN0, Q9HCN1, Q9HCN2
    5. XM_054369621.1XP_054225596.1  p53-regulated apoptosis-inducing protein 1 isoform X6

    6. XM_054369618.1XP_054225593.1  p53-regulated apoptosis-inducing protein 1 isoform X3

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