F162A_HUMAN
ID F162A_HUMAN Reviewed; 154 AA.
AC Q96A26; Q9NRN6; Q9UJX8;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Protein FAM162A;
DE AltName: Full=E2-induced gene 5 protein;
DE AltName: Full=Growth and transformation-dependent protein;
DE Short=HGTD-P;
GN Name=FAM162A; Synonyms=C3orf28, E2IG5; ORFNames=DC16, FWP001;
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], AND INDUCTION.
RC TISSUE=Placenta;
RX PubMed=11085516;
RA Charpentier A.H., Bednarek A.K., Daniel R.L., Hawkins K.A., Laflin K.J.,
RA Gaddis S., MacLeod M.C., Aldaz C.M.;
RT "Effects of estrogen on global gene expression: identification of novel
RT targets of estrogen action.";
RL Cancer Res. 60:5977-5983(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Dendritic cell;
RA Shi J., Peng Y., Li N., Gu W., Han Z., Fu G., Chen Z.;
RT "Novel genes expressed in human dendritic cell.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-50.
RC TISSUE=Brain, and Prostate;
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).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH VDAC2.
RX PubMed=15082785; DOI=10.1128/mcb.24.9.3918-3927.2004;
RA Lee M.J., Kim J.Y., Suk K., Park J.H.;
RT "Identification of the hypoxia-inducible factor 1 alpha-responsive HGTD-P
RT gene as a mediator in the mitochondrial apoptotic pathway.";
RL Mol. Cell. Biol. 24:3918-3927(2004).
RN [5]
RP INTERACTION WITH HSP90AB1, AND SUBCELLULAR LOCATION.
RX PubMed=16698020; DOI=10.1016/j.febslet.2006.05.001;
RA Kim J.Y., Kim S.M., Ko J.H., Yim J.H., Park J.H., Park J.H.;
RT "Interaction of pro-apoptotic protein HGTD-P with heat shock protein 90 is
RT required for induction of mitochondrial apoptotic cascades.";
RL FEBS Lett. 580:3270-3275(2006).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Proposed to be involved in regulation of apoptosis; the exact
CC mechanism may differ between cell types/tissues (PubMed:15082785). May
CC be involved in hypoxia-induced cell death of transformed cells
CC implicating cytochrome C release and caspase activation (such as CASP9)
CC and inducing mitochondrial permeability transition (PubMed:15082785).
CC May be involved in hypoxia-induced cell death of neuronal cells
CC probably by promoting release of AIFM1 from mitochondria to cytoplasm
CC and its translocation to the nucleus; however, the involvement of
CC caspases has been reported conflictingly (By similarity).
CC {ECO:0000250|UniProtKB:Q9D6U8, ECO:0000269|PubMed:15082785}.
CC -!- SUBUNIT: Interacts with HSP90AB1; HSP90AB1 is essential for FAM162A
CC mitochondrial localization and pro-apoptotic activity
CC (PubMed:16698020). Interacts with VDAC2; the interaction is probably
CC involved in inducing mitochondrial permeability transition
CC (PubMed:15082785). {ECO:0000269|PubMed:15082785,
CC ECO:0000269|PubMed:16698020}.
CC -!- INTERACTION:
CC Q96A26; P08238: HSP90AB1; NbExp=3; IntAct=EBI-6123466, EBI-352572;
CC Q96A26; P45880: VDAC2; NbExp=2; IntAct=EBI-6123466, EBI-354022;
CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane
CC {ECO:0000269|PubMed:15082785, ECO:0000269|PubMed:16698020}; Single-pass
CC membrane protein {ECO:0000305}.
CC -!- INDUCTION: By 17-beta-estradiol. By hypoxia.
CC {ECO:0000269|PubMed:11085516}.
CC -!- SIMILARITY: Belongs to the UPF0389 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF09484.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF191020; AAF09484.1; ALT_FRAME; mRNA.
DR EMBL; AF201944; AAF86880.1; -; mRNA.
DR EMBL; AF107495; AAG39275.1; -; mRNA.
DR EMBL; BC010896; AAH10896.1; -; mRNA.
DR EMBL; BC015060; AAH15060.1; -; mRNA.
DR CCDS; CCDS43139.1; -.
DR RefSeq; NP_055182.3; NM_014367.3.
DR AlphaFoldDB; Q96A26; -.
DR SMR; Q96A26; -.
DR BioGRID; 117691; 75.
DR IntAct; Q96A26; 20.
DR MINT; Q96A26; -.
DR STRING; 9606.ENSP00000419088; -.
DR GlyGen; Q96A26; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96A26; -.
DR MetOSite; Q96A26; -.
DR PhosphoSitePlus; Q96A26; -.
DR SwissPalm; Q96A26; -.
DR BioMuta; FAM162A; -.
DR DMDM; 117949400; -.
DR EPD; Q96A26; -.
DR jPOST; Q96A26; -.
DR MassIVE; Q96A26; -.
DR MaxQB; Q96A26; -.
DR PaxDb; Q96A26; -.
DR PeptideAtlas; Q96A26; -.
DR PRIDE; Q96A26; -.
DR ProteomicsDB; 75897; -.
DR TopDownProteomics; Q96A26; -.
DR Antibodypedia; 32893; 78 antibodies from 19 providers.
DR DNASU; 26355; -.
DR Ensembl; ENST00000477892.5; ENSP00000419088.1; ENSG00000114023.16.
DR GeneID; 26355; -.
DR KEGG; hsa:26355; -.
DR MANE-Select; ENST00000477892.5; ENSP00000419088.1; NM_014367.4; NP_055182.3.
DR UCSC; uc003eez.4; human.
DR CTD; 26355; -.
DR DisGeNET; 26355; -.
DR GeneCards; FAM162A; -.
DR HGNC; HGNC:17865; FAM162A.
DR HPA; ENSG00000114023; Low tissue specificity.
DR MIM; 608017; gene.
DR neXtProt; NX_Q96A26; -.
DR OpenTargets; ENSG00000114023; -.
DR PharmGKB; PA162386916; -.
DR VEuPathDB; HostDB:ENSG00000114023; -.
DR eggNOG; ENOG502S1PN; Eukaryota.
DR GeneTree; ENSGT00640000091497; -.
DR InParanoid; Q96A26; -.
DR OMA; GMCNKLP; -.
DR OrthoDB; 1470947at2759; -.
DR PhylomeDB; Q96A26; -.
DR TreeFam; TF323771; -.
DR PathwayCommons; Q96A26; -.
DR SignaLink; Q96A26; -.
DR SIGNOR; Q96A26; -.
DR BioGRID-ORCS; 26355; 16 hits in 1086 CRISPR screens.
DR ChiTaRS; FAM162A; human.
DR GenomeRNAi; 26355; -.
DR Pharos; Q96A26; Tbio.
DR PRO; PR:Q96A26; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96A26; protein.
DR Bgee; ENSG00000114023; Expressed in mucosa of sigmoid colon and 208 other tissues.
DR ExpressionAtlas; Q96A26; baseline and differential.
DR Genevisible; Q96A26; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0006919; P:activation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB.
DR GO; GO:0071456; P:cellular response to hypoxia; IDA:UniProtKB.
DR GO; GO:0051402; P:neuron apoptotic process; IBA:GO_Central.
DR GO; GO:0043065; P:positive regulation of apoptotic process; IDA:UniProtKB.
DR GO; GO:0090200; P:positive regulation of release of cytochrome c from mitochondria; IDA:UniProtKB.
DR InterPro; IPR009432; DUF1075.
DR PANTHER; PTHR13674; PTHR13674; 1.
DR Pfam; PF06388; DUF1075; 1.
PE 1: Evidence at protein level;
KW Apoptosis; Membrane; Mitochondrion; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..154
FT /note="Protein FAM162A"
FT /id="PRO_0000254635"
FT TRANSMEM 103..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 76..102
FT /note="Required for proapoptotic activity"
FT /evidence="ECO:0000269|PubMed:15082785"
FT VARIANT 50
FT /note="A -> V (in dbSNP:rs17850692)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028849"
SQ SEQUENCE 154 AA; 17342 MW; 3C4457C83044ADD8 CRC64;
MGSLSGLRLA AGSCFRLCER DVSSSLRLTR SSDLKRINGF CTKPQESPGA PSRTYNRVPL
HKPTDWQKKI LIWSGRFKKE DEIPETVSLE MLDAAKNKMR VKISYLMIAL TVVGCIFMVI
EGKKAAQRHE TLTSLNLEKK ARLKEEAAMK AKTE
