TPIP1_HUMAN
ID TPIP1_HUMAN Reviewed; 124 AA.
AC Q9HCN2; Q6NT40; Q7Z6F7; Q9HCN0; Q9HCN1;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=p53-regulated apoptosis-inducing protein 1;
DE Short=p53AIP1;
GN Name=TP53AIP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=11030628; DOI=10.1016/s0092-8674(00)00073-8;
RA Oda K., Arakawa H., Tanaka T., Matsuda K., Tanikawa C., Mori T.,
RA Nishimori H., Tamai K., Tokino T., Nakamura Y., Taya Y.;
RT "p53AIP1, a potential mediator of p53-dependent apoptosis, and its
RT regulation by Ser-46-phosphorylated p53.";
RL Cell 102:849-862(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
RA Zhou G., Xiao W., Li H., Shen C., Zhong G., Yu R., Lin L., Yang S.;
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT VAL-7.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May play an important role in mediating p53/TP53-dependent
CC apoptosis. {ECO:0000269|PubMed:11030628}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11030628}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=Alpha;
CC IsoId=Q9HCN2-1; Sequence=Displayed;
CC Name=2; Synonyms=Beta;
CC IsoId=Q9HCN2-2; Sequence=VSP_027866, VSP_027867;
CC Name=3; Synonyms=Gamma;
CC IsoId=Q9HCN2-3; Sequence=VSP_027865;
CC Name=4;
CC IsoId=Q9HCN2-4; Sequence=VSP_027868;
CC -!- TISSUE SPECIFICITY: Only found to be expressed in thymus.
CC {ECO:0000269|PubMed:11030628}.
CC -!- INDUCTION: By p53/TP53. {ECO:0000269|PubMed:11030628}.
CC -!- MISCELLANEOUS: [Isoform 3]: Dubious isoform. Could be a cloning
CC artifact. {ECO:0000305}.
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DR EMBL; AB045830; BAB16421.1; -; mRNA.
DR EMBL; AB045831; BAB16422.1; -; mRNA.
DR EMBL; AB045832; BAB16423.1; -; mRNA.
DR EMBL; AY302135; AAP57627.1; -; mRNA.
DR EMBL; AP000920; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC069399; AAH69399.1; -; mRNA.
DR EMBL; BC069426; AAH69426.1; -; mRNA.
DR CCDS; CCDS55797.1; -. [Q9HCN2-2]
DR CCDS; CCDS55798.1; -. [Q9HCN2-4]
DR CCDS; CCDS58195.1; -. [Q9HCN2-3]
DR CCDS; CCDS8480.2; -. [Q9HCN2-1]
DR RefSeq; NP_001182123.1; NM_001195194.1. [Q9HCN2-4]
DR RefSeq; NP_001182124.1; NM_001195195.1. [Q9HCN2-2]
DR RefSeq; NP_001238893.1; NM_001251964.1. [Q9HCN2-3]
DR RefSeq; NP_071395.2; NM_022112.2. [Q9HCN2-1]
DR RefSeq; XP_016873605.1; XM_017018116.1. [Q9HCN2-1]
DR AlphaFoldDB; Q9HCN2; -.
DR BioGRID; 122018; 2.
DR IntAct; Q9HCN2; 1.
DR STRING; 9606.ENSP00000432743; -.
DR iPTMnet; Q9HCN2; -.
DR PhosphoSitePlus; Q9HCN2; -.
DR BioMuta; TP53AIP1; -.
DR PaxDb; Q9HCN2; -.
DR PRIDE; Q9HCN2; -.
DR Antibodypedia; 33030; 162 antibodies from 26 providers.
DR DNASU; 63970; -.
DR Ensembl; ENST00000458238.6; ENSP00000390694.2; ENSG00000120471.16. [Q9HCN2-2]
DR Ensembl; ENST00000527504.1; ENSP00000435175.1; ENSG00000120471.16. [Q9HCN2-3]
DR Ensembl; ENST00000530777.5; ENSP00000432908.1; ENSG00000120471.16. [Q9HCN2-4]
DR Ensembl; ENST00000531399.6; ENSP00000432743.1; ENSG00000120471.16. [Q9HCN2-1]
DR Ensembl; ENST00000602346.5; ENSP00000473353.1; ENSG00000120471.16. [Q9HCN2-3]
DR GeneID; 63970; -.
DR KEGG; hsa:63970; -.
DR MANE-Select; ENST00000531399.6; ENSP00000432743.1; NM_022112.3; NP_071395.2.
DR UCSC; uc001qex.5; human. [Q9HCN2-1]
DR CTD; 63970; -.
DR DisGeNET; 63970; -.
DR GeneCards; TP53AIP1; -.
DR HGNC; HGNC:29984; TP53AIP1.
DR HPA; ENSG00000120471; Group enriched (esophagus, lymphoid tissue, skin, vagina).
DR MIM; 605426; gene.
DR neXtProt; NX_Q9HCN2; -.
DR OpenTargets; ENSG00000120471; -.
DR PharmGKB; PA164726680; -.
DR VEuPathDB; HostDB:ENSG00000120471; -.
DR eggNOG; ENOG502TM39; Eukaryota.
DR GeneTree; ENSGT00390000000643; -.
DR HOGENOM; CLU_2497229_0_0_1; -.
DR InParanoid; Q9HCN2; -.
DR OMA; TVWCLTD; -.
DR OrthoDB; 1495569at2759; -.
DR PhylomeDB; Q9HCN2; -.
DR PathwayCommons; Q9HCN2; -.
DR Reactome; R-HSA-6803204; TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
DR SignaLink; Q9HCN2; -.
DR BioGRID-ORCS; 63970; 8 hits in 1067 CRISPR screens.
DR ChiTaRS; TP53AIP1; human.
DR GeneWiki; P53AIP1; -.
DR GenomeRNAi; 63970; -.
DR Pharos; Q9HCN2; Tbio.
DR PRO; PR:Q9HCN2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9HCN2; protein.
DR Bgee; ENSG00000120471; Expressed in buccal mucosa cell and 122 other tissues.
DR Genevisible; Q9HCN2; HS.
DR GO; GO:0005759; C:mitochondrial matrix; TAS:Reactome.
DR GO; GO:0005739; C:mitochondrion; TAS:UniProtKB.
DR GO; GO:0006915; P:apoptotic process; TAS:UniProtKB.
DR InterPro; IPR029284; TP53AIP1.
DR Pfam; PF15338; TPIP1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Apoptosis; Mitochondrion; Reference proteome.
FT CHAIN 1..124
FT /note="p53-regulated apoptosis-inducing protein 1"
FT /id="PRO_0000300813"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..18
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 50..124
FT /note="DPLVLGAQVHGGCRGIEALSVSSGSWSSATVWILTGLGLGLSRPFLPGATVL
FT RDRPLGSAFELSYDQKKAPLRLQ -> PCSENRDGLLPATAPGRLCSHRGADIPSFQTH
FT QDPVTASGSSELHADCPQFRALDRAGN (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11030628,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027865"
FT VAR_SEQ 85..86
FT /note="GL -> VQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11030628"
FT /id="VSP_027866"
FT VAR_SEQ 86..89
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_027868"
FT VAR_SEQ 87..124
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11030628"
FT /id="VSP_027867"
FT VARIANT 7
FT /note="A -> V (in dbSNP:rs35942033)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_059735"
SQ SEQUENCE 124 AA; 12935 MW; BE3858F03F4036C5 CRC64;
MGSSSEASFR SAQASCSGAR RQGLGRGDQN LSVMPPNGRA QTHTPGWVSD PLVLGAQVHG
GCRGIEALSV SSGSWSSATV WILTGLGLGL SRPFLPGATV LRDRPLGSAF ELSYDQKKAP
LRLQ
