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