CNIH4_HUMAN
ID CNIH4_HUMAN Reviewed; 139 AA.
AC Q9P003; A8K1Q8; B2R553; Q9H0X8;
DT 08-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Protein cornichon homolog 4;
DE Short=CNIH-4;
DE AltName: Full=Cornichon family AMPA receptor auxiliary protein 4;
GN Name=CNIH4; ORFNames=HSPC163;
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 [LARGE SCALE MRNA] (ISOFORM 1).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Uterus;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Cerebellum, and Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 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 FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH CCR5; ADRB2; SEC24B
RP AND SEC24D.
RX PubMed=24405750; DOI=10.1111/tra.12148;
RA Sauvageau E., Rochdi M.D., Oueslati M., Hamdan F.F., Percherancier Y.,
RA Simpson J.C., Pepperkok R., Bouvier M.;
RT "CNIH4 interacts with newly synthesized GPCR and controls their export from
RT the endoplasmic reticulum.";
RL Traffic 15:383-400(2014).
CC -!- FUNCTION: Involved in G protein-coupled receptors (GPCRs) trafficking
CC from the endoplasmic reticulum to the cell surface; it promotes the
CC exit of GPCRs from the early secretory pathway, likely through
CC interaction with the COPII machinery (PubMed:24405750).
CC {ECO:0000269|PubMed:24405750}.
CC -!- SUBUNIT: Interacts with Sec23/24 complex components SEC24B and SEC24D
CC (PubMed:24405750). Interacts with CCR5 (PubMed:24405750). Interacts
CC with ADRB2 in the early secretory pathway (PubMed:24405750).
CC {ECO:0000269|PubMed:24405750}.
CC -!- INTERACTION:
CC Q9P003; O00155: GPR25; NbExp=3; IntAct=EBI-1044341, EBI-10178951;
CC Q9P003; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-1044341, EBI-8638294;
CC Q9P003; A0AVG3: TSNARE1; NbExp=3; IntAct=EBI-1044341, EBI-12003468;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Endoplasmic reticulum
CC {ECO:0000269|PubMed:24405750}. Endoplasmic reticulum-Golgi intermediate
CC compartment {ECO:0000269|PubMed:24405750}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9P003-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P003-2; Sequence=VSP_013466;
CC -!- SIMILARITY: Belongs to the cornichon family. {ECO:0000305}.
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DR EMBL; AF161512; AAF29127.1; -; mRNA.
DR EMBL; AL136930; CAB66864.1; -; mRNA.
DR EMBL; AK289973; BAF82662.1; -; mRNA.
DR EMBL; AK312064; BAG35000.1; -; mRNA.
DR EMBL; CH471098; EAW69717.1; -; Genomic_DNA.
DR EMBL; CH471098; EAW69719.1; -; Genomic_DNA.
DR EMBL; BC000573; AAH00573.1; -; mRNA.
DR CCDS; CCDS1543.1; -. [Q9P003-1]
DR CCDS; CCDS60430.1; -. [Q9P003-2]
DR RefSeq; NP_001264126.1; NM_001277197.1. [Q9P003-2]
DR RefSeq; NP_054903.1; NM_014184.3. [Q9P003-1]
DR AlphaFoldDB; Q9P003; -.
DR SMR; Q9P003; -.
DR BioGRID; 118865; 67.
DR IntAct; Q9P003; 7.
DR STRING; 9606.ENSP00000420443; -.
DR GlyGen; Q9P003; 1 site, 1 O-linked glycan (1 site).
DR MetOSite; Q9P003; -.
DR SwissPalm; Q9P003; -.
DR BioMuta; CNIH4; -.
DR DMDM; 12229837; -.
DR EPD; Q9P003; -.
DR jPOST; Q9P003; -.
DR MassIVE; Q9P003; -.
DR MaxQB; Q9P003; -.
DR PaxDb; Q9P003; -.
DR PeptideAtlas; Q9P003; -.
DR PRIDE; Q9P003; -.
DR ProteomicsDB; 83530; -. [Q9P003-1]
DR Antibodypedia; 34638; 77 antibodies from 17 providers.
DR DNASU; 29097; -.
DR Ensembl; ENST00000366857.9; ENSP00000355822.5; ENSG00000143771.12. [Q9P003-2]
DR Ensembl; ENST00000465271.6; ENSP00000420443.1; ENSG00000143771.12. [Q9P003-1]
DR GeneID; 29097; -.
DR KEGG; hsa:29097; -.
DR MANE-Select; ENST00000465271.6; ENSP00000420443.1; NM_014184.4; NP_054903.1.
DR UCSC; uc001hom.3; human. [Q9P003-1]
DR CTD; 29097; -.
DR DisGeNET; 29097; -.
DR GeneCards; CNIH4; -.
DR HGNC; HGNC:25013; CNIH4.
DR HPA; ENSG00000143771; Low tissue specificity.
DR MIM; 617483; gene.
DR neXtProt; NX_Q9P003; -.
DR OpenTargets; ENSG00000143771; -.
DR PharmGKB; PA142672091; -.
DR VEuPathDB; HostDB:ENSG00000143771; -.
DR eggNOG; KOG2729; Eukaryota.
DR GeneTree; ENSGT00950000182834; -.
DR HOGENOM; CLU_112942_0_1_1; -.
DR InParanoid; Q9P003; -.
DR OMA; YLYCMII; -.
DR OrthoDB; 1602458at2759; -.
DR PhylomeDB; Q9P003; -.
DR TreeFam; TF300083; -.
DR PathwayCommons; Q9P003; -.
DR SignaLink; Q9P003; -.
DR BioGRID-ORCS; 29097; 353 hits in 1091 CRISPR screens.
DR ChiTaRS; CNIH4; human.
DR GeneWiki; CNIH4; -.
DR GenomeRNAi; 29097; -.
DR Pharos; Q9P003; Tbio.
DR PRO; PR:Q9P003; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9P003; protein.
DR Bgee; ENSG00000143771; Expressed in jejunal mucosa and 210 other tissues.
DR ExpressionAtlas; Q9P003; baseline and differential.
DR Genevisible; Q9P003; HS.
DR GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031730; F:CCR5 chemokine receptor binding; IPI:UniProtKB.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; IMP:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR003377; Cornichon.
DR Pfam; PF03311; Cornichon; 1.
DR SMART; SM01398; Cornichon; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endoplasmic reticulum; ER-Golgi transport; Membrane;
KW Protein transport; Reference proteome; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..139
FT /note="Protein cornichon homolog 4"
FT /id="PRO_0000122230"
FT TRANSMEM 5..25
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..77
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 118..138
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 85..131
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_013466"
FT VARIANT 3
FT /note="A -> G (in dbSNP:rs12123896)"
FT /id="VAR_048830"
SQ SEQUENCE 139 AA; 16093 MW; 9452E9BDEC2A8DEF CRC64;
MEAVVFVFSL LDCCALIFLS VYFIITLSDL ECDYINARSC CSKLNKWVIP ELIGHTIVTV
LLLMSLHWFI FLLNLPVATW NIYRYIMVPS GNMGVFDPTE IHNRGQLKSH MKEAMIKLGF
HLLCFFMYLY SMILALIND
