CNIH1_HUMAN
ID CNIH1_HUMAN Reviewed; 144 AA.
AC O95406; Q3SYM7;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Protein cornichon homolog 1;
DE Short=CNIH-1;
DE AltName: Full=Cornichon family AMPA receptor auxiliary protein 1;
DE AltName: Full=Protein cornichon homolog;
DE AltName: Full=T-cell growth-associated molecule 77;
DE Short=TGAM77;
GN Name=CNIH1; Synonyms=CNIH, CNIL; ORFNames=UNQ155/PRO181;
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].
RC TISSUE=Carcinoma;
RA Plisov S.Y., Ivanov S.V., Lerman M., Perantoni A.O.;
RL Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 11-144.
RX PubMed=10209299; DOI=10.1016/s0167-4889(99)00026-9;
RA Utku N., Bulwin G.-C., Beinke S., Heinemann T., Beato F., Randall J.,
RA Schnieders B., Sandhoff K., Volk H.-D., Milford E., Gullans S.R.;
RT "The human homolog of Drosophila cornichon protein is differentially
RT expressed in alloactivated T-cells.";
RL Biochim. Biophys. Acta 1449:203-210(1999).
RN [7]
RP FUNCTION, INTERACTION WITH AREG AND TGFA, AND SUBCELLULAR LOCATION.
RX PubMed=17607000; DOI=10.1242/jcs.004200;
RA Perez Castro C., Piscopo D., Nakagawa T., Derynck R.;
RT "Cornichon regulates transport and secretion of TGFalpha-related proteins
RT in metazoan cells.";
RL J. Cell Sci. 120:2454-2466(2007).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=23103966; DOI=10.1097/wnr.0b013e32835ad229;
RA Drummond J.B., Simmons M., Haroutunian V., Meador-Woodruff J.H.;
RT "Upregulation of cornichon transcripts in the dorsolateral prefrontal
RT cortex in schizophrenia.";
RL NeuroReport 23:1031-1034(2012).
CC -!- FUNCTION: Involved in the selective transport and maturation of TGF-
CC alpha family proteins. {ECO:0000269|PubMed:17607000}.
CC -!- SUBUNIT: Interacts with AREG immature precursor and with immature TGFA,
CC i.e. with a prosegment and lacking full N-glycosylation, but not with
CC the fully N-glycosylated form. In the Golgi apparatus, may form a
CC complex with GORASP55 and transmembrane TGFA.
CC {ECO:0000269|PubMed:17607000}.
CC -!- INTERACTION:
CC O95406; Q13520: AQP6; NbExp=3; IntAct=EBI-12172273, EBI-13059134;
CC O95406; Q13323: BIK; NbExp=3; IntAct=EBI-12172273, EBI-700794;
CC O95406; P19397: CD53; NbExp=3; IntAct=EBI-12172273, EBI-6657396;
CC O95406; P11912: CD79A; NbExp=3; IntAct=EBI-12172273, EBI-7797864;
CC O95406; O95471: CLDN7; NbExp=3; IntAct=EBI-12172273, EBI-740744;
CC O95406; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-12172273, EBI-18013275;
CC O95406; P00387: CYB5R3; NbExp=3; IntAct=EBI-12172273, EBI-1046040;
CC O95406; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12172273, EBI-781551;
CC O95406; P34910-2: EVI2B; NbExp=3; IntAct=EBI-12172273, EBI-17640610;
CC O95406; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-12172273, EBI-18304435;
CC O95406; O15552: FFAR2; NbExp=3; IntAct=EBI-12172273, EBI-2833872;
CC O95406; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-12172273, EBI-13345167;
CC O95406; Q8TED1: GPX8; NbExp=3; IntAct=EBI-12172273, EBI-11721746;
CC O95406; P28335: HTR2C; NbExp=3; IntAct=EBI-12172273, EBI-994141;
CC O95406; A8MZ59: LEUTX; NbExp=3; IntAct=EBI-12172273, EBI-17490413;
CC O95406; Q96AG4: LRRC59; NbExp=3; IntAct=EBI-12172273, EBI-358888;
CC O95406; Q8IX19: MCEMP1; NbExp=3; IntAct=EBI-12172273, EBI-2816356;
CC O95406; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-12172273, EBI-11956541;
CC O95406; Q6IN84: MRM1; NbExp=3; IntAct=EBI-12172273, EBI-5454865;
CC O95406; P35372-10: OPRM1; NbExp=3; IntAct=EBI-12172273, EBI-12807478;
CC O95406; Q9Y225-2: RNF24; NbExp=3; IntAct=EBI-12172273, EBI-13044680;
CC O95406; Q96DD7: SHISA4; NbExp=3; IntAct=EBI-12172273, EBI-18035902;
CC O95406; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-12172273, EBI-18159983;
CC O95406; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-12172273, EBI-17595455;
CC O95406; A1A5C7-2: SLC22A23; NbExp=3; IntAct=EBI-12172273, EBI-12081840;
CC O95406; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-12172273, EBI-17295964;
CC O95406; Q9BZL3: SMIM3; NbExp=6; IntAct=EBI-12172273, EBI-741850;
CC O95406; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-12172273, EBI-18178701;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:17607000}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:17607000}. Golgi apparatus membrane
CC {ECO:0000269|PubMed:17607000}. Note=Located primarily in the ER; may
CC cycle between the ER and the Golgi apparatus.
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, liver, skeletal muscle,
CC pancreas, adrenal medulla and cortex, thyroid, testis, spleen,
CC appendix, peripheral blood lymphocytes and bone marrow. Lower
CC expression found in brain, placenta, lung, kidney, ovary, small
CC intestine, stomach, lymph node, thymus and fetal liver. Expression is
CC up-regulated in dorsolateral prefrontal cortex of patients with
CC schizophrenia (postmortem brain study). {ECO:0000269|PubMed:23103966}.
CC -!- SIMILARITY: Belongs to the cornichon family. {ECO:0000305}.
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DR EMBL; AF104398; AAC98388.1; -; mRNA.
DR EMBL; AF070654; AAD20960.1; -; mRNA.
DR EMBL; AY358635; AAQ88998.1; -; mRNA.
DR EMBL; AL359792; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC103741; AAI03742.1; -; mRNA.
DR EMBL; AF031379; AAD32301.1; -; mRNA.
DR CCDS; CCDS9717.1; -.
DR RefSeq; NP_005767.1; NM_005776.2.
DR AlphaFoldDB; O95406; -.
DR SMR; O95406; -.
DR BioGRID; 115476; 32.
DR IntAct; O95406; 29.
DR MINT; O95406; -.
DR STRING; 9606.ENSP00000216416; -.
DR TCDB; 8.A.61.1.2; the endoplasmic reticulum-derived vesicle protein, erv14 (erv14) family.
DR BioMuta; CNIH1; -.
DR EPD; O95406; -.
DR jPOST; O95406; -.
DR MassIVE; O95406; -.
DR MaxQB; O95406; -.
DR PaxDb; O95406; -.
DR PeptideAtlas; O95406; -.
DR PRIDE; O95406; -.
DR ProteomicsDB; 50859; -.
DR Antibodypedia; 151; 86 antibodies from 17 providers.
DR DNASU; 10175; -.
DR Ensembl; ENST00000216416.9; ENSP00000216416.4; ENSG00000100528.12.
DR GeneID; 10175; -.
DR KEGG; hsa:10175; -.
DR MANE-Select; ENST00000216416.9; ENSP00000216416.4; NM_005776.3; NP_005767.1.
DR UCSC; uc001xat.2; human.
DR CTD; 10175; -.
DR GeneCards; CNIH1; -.
DR HGNC; HGNC:19431; CNIH1.
DR HPA; ENSG00000100528; Low tissue specificity.
DR MIM; 611287; gene.
DR neXtProt; NX_O95406; -.
DR OpenTargets; ENSG00000100528; -.
DR PharmGKB; PA134864821; -.
DR VEuPathDB; HostDB:ENSG00000100528; -.
DR eggNOG; KOG2729; Eukaryota.
DR GeneTree; ENSGT00950000182834; -.
DR InParanoid; O95406; -.
DR OMA; WIAFLLN; -.
DR OrthoDB; 1602458at2759; -.
DR PhylomeDB; O95406; -.
DR TreeFam; TF300083; -.
DR PathwayCommons; O95406; -.
DR Reactome; R-HSA-204005; COPII-mediated vesicle transport.
DR Reactome; R-HSA-5694530; Cargo concentration in the ER.
DR SignaLink; O95406; -.
DR BioGRID-ORCS; 10175; 37 hits in 1072 CRISPR screens.
DR ChiTaRS; CNIH1; human.
DR GeneWiki; CNIH; -.
DR GenomeRNAi; 10175; -.
DR Pharos; O95406; Tbio.
DR PRO; PR:O95406; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; O95406; protein.
DR Bgee; ENSG00000100528; Expressed in jejunal mucosa and 211 other tissues.
DR ExpressionAtlas; O95406; baseline and differential.
DR Genevisible; O95406; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; TAS:Reactome.
DR GO; GO:0012507; C:ER to Golgi transport vesicle membrane; TAS:Reactome.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0006955; P:immune response; TAS:ProtInc.
DR GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR GO; GO:0016192; P:vesicle-mediated transport; IEA:UniProtKB-KW.
DR InterPro; IPR003377; Cornichon.
DR InterPro; IPR033466; Cornichon_conserved.
DR Pfam; PF03311; Cornichon; 1.
DR SMART; SM01398; Cornichon; 1.
DR PROSITE; PS01340; CORNICHON; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; ER-Golgi transport; Golgi apparatus; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..144
FT /note="Protein cornichon homolog 1"
FT /id="PRO_0000122222"
FT TOPO_DOM 1..10
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 32..56
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..77
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 78..122
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 144
FT /note="Lumenal"
FT /evidence="ECO:0000255"
SQ SEQUENCE 144 AA; 16699 MW; 59BD114D24C455CD CRC64;
MAFTFAAFCY MLALLLTAAL IFFAIWHIIA FDELKTDYKN PIDQCNTLNP LVLPEYLIHA
FFCVMFLCAA EWLTLGLNMP LLAYHIWRYM SRPVMSGPGL YDPTTIMNAD ILAYCQKEGW
CKLAFYLLAF FYYLYGMIYV LVSS
