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HEPN1_HUMAN
ID   HEPN1_HUMAN             Reviewed;          88 AA.
AC   Q6WQI6;
DT   05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   05-FEB-2008, sequence version 2.
DT   03-AUG-2022, entry version 101.
DE   RecName: Full=Putative cancer susceptibility gene HEPN1 protein;
GN   Name=HEPN1;
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], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP   VARIANT ARG-37.
RX   PubMed=12971969; DOI=10.1016/s0168-8278(03)00359-3;
RA   Moh M.C., Lee L.H., Yang X., Shen S.;
RT   "HEPN1, a novel gene that is frequently down-regulated in hepatocellular
RT   carcinoma, suppresses cell growth and induces apoptosis in HepG2 cells.";
RL   J. Hepatol. 39:580-586(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Hypothalamus;
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   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12971969}.
CC   -!- TISSUE SPECIFICITY: Expressed in liver. Expression is either down-
CC       regulated or lost in hepatocellular carcinomas (HCC).
CC       {ECO:0000269|PubMed:12971969}.
CC   -!- CAUTION: Product of a dubious CDS prediction. Encoded by the 3'-UTR of
CC       HEPACAM. {ECO:0000305}.
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DR   EMBL; AY275431; AAQ19120.1; -; mRNA.
DR   EMBL; BC037810; -; NOT_ANNOTATED_CDS; mRNA.
DR   RefSeq; NP_001032647.2; NM_001037558.2.
DR   AlphaFoldDB; Q6WQI6; -.
DR   BioGRID; 535011; 10.
DR   IntAct; Q6WQI6; 1.
DR   MINT; Q6WQI6; -.
DR   STRING; 9606.ENSP00000386143; -.
DR   BioMuta; HEPN1; -.
DR   PaxDb; Q6WQI6; -.
DR   PRIDE; Q6WQI6; -.
DR   Antibodypedia; 65577; 69 antibodies from 12 providers.
DR   DNASU; 641654; -.
DR   Ensembl; ENST00000408930.6; ENSP00000386143.4; ENSG00000221932.6.
DR   GeneID; 641654; -.
DR   UCSC; uc001qbj.2; human.
DR   CTD; 641654; -.
DR   DisGeNET; 641654; -.
DR   GeneCards; HEPN1; -.
DR   HGNC; HGNC:34400; HEPN1.
DR   HPA; ENSG00000221932; Tissue enhanced (adipose tissue, brain, liver).
DR   MalaCards; HEPN1; -.
DR   MIM; 611641; gene.
DR   neXtProt; NX_Q6WQI6; -.
DR   OpenTargets; ENSG00000221932; -.
DR   PharmGKB; PA162390850; -.
DR   VEuPathDB; HostDB:ENSG00000221932; -.
DR   eggNOG; ENOG502TE5T; Eukaryota.
DR   GeneTree; ENSGT00510000055197; -.
DR   HOGENOM; CLU_2468423_0_0_1; -.
DR   InParanoid; Q6WQI6; -.
DR   OMA; NRWWHGH; -.
DR   OrthoDB; 905929at2759; -.
DR   PhylomeDB; Q6WQI6; -.
DR   PathwayCommons; Q6WQI6; -.
DR   SignaLink; Q6WQI6; -.
DR   BioGRID-ORCS; 641654; 141 hits in 1009 CRISPR screens.
DR   GenomeRNAi; 641654; -.
DR   Pharos; Q6WQI6; Tdark.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q6WQI6; protein.
DR   Bgee; ENSG00000221932; Expressed in amygdala and 82 other tissues.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
PE   5: Uncertain;
KW   Cytoplasm; Reference proteome.
FT   CHAIN           1..88
FT                   /note="Putative cancer susceptibility gene HEPN1 protein"
FT                   /id="PRO_0000317106"
FT   VARIANT         37
FT                   /note="W -> R (in dbSNP:rs3802904)"
FT                   /evidence="ECO:0000269|PubMed:12971969"
FT                   /id="VAR_051027"
SQ   SEQUENCE   88 AA;  10305 MW;  86B4FBE3F21C6EE0 CRC64;
     MGNWGLGIAP WVDGESELEF RRLGMQGPLE ALRRREWNTQ RASFSFSFLI ALSPHTVDYC
     HSYELFNRRW HGHVLATQRP SLFILMLV
 
 
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