CD3CH_HUMAN
ID CD3CH_HUMAN Reviewed; 201 AA.
AC A0A0K2S4Q6; A0A0K2S5L2; A0A286YF48;
DT 07-NOV-2018, integrated into UniProtKB/Swiss-Prot.
DT 11-NOV-2015, sequence version 1.
DT 03-AUG-2022, entry version 33.
DE RecName: Full=Protein CD300H {ECO:0000305};
DE AltName: Full=CD300 antigen-like family member H;
DE Flags: Precursor;
GN Name=CD300H {ECO:0000312|HGNC:HGNC:52292};
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] (ISOFORMS 1 AND 2), POLYMORPHISM, TISSUE
RP SPECIFICITY, INTERACTION WITH TYROBP AND HCST, SUBCELLULAR LOCATION
RP (ISOFORM 2), AND FUNCTION.
RX PubMed=26221034; DOI=10.1074/jbc.m115.643361;
RA Niizuma K., Tahara-Hanaoka S., Noguchi E., Shibuya A.;
RT "Identification and Characterization of CD300H, a New Member of the Human
RT CD300 Immunoreceptor Family.";
RL J. Biol. Chem. 290:22298-22308(2015).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
CC -!- FUNCTION: May play an important role in innate immunity by mediating a
CC signal for the production of a neutrophil chemoattractant.
CC {ECO:0000269|PubMed:26221034}.
CC -!- SUBUNIT: Interacts with TYROBP and HCST. {ECO:0000269|PubMed:26221034}.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Membrane {ECO:0000255}; Single-pass
CC type I membrane protein {ECO:0000255}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted
CC {ECO:0000269|PubMed:26221034}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=CD300H {ECO:0000303|PubMed:26221034};
CC IsoId=A0A0K2S4Q6-1; Sequence=Displayed;
CC Name=2; Synonyms=CD300Hs {ECO:0000303|PubMed:26221034};
CC IsoId=A0A0K2S4Q6-2; Sequence=VSP_059910, VSP_059911;
CC -!- TISSUE SPECIFICITY: Expressed on CD16+ monocytes and myeloid dendritic
CC cells. By contrast, is not expressed on lymphocytes or granulocytes.
CC {ECO:0000269|PubMed:26221034}.
CC -!- POLYMORPHISM: Some individuals have a mutation
CC (NM_001324073.1:c.61+1A>G) which abolishes the intron 1 donor splice
CC site. These persons carrying the A/A genotype shows a loss of CD300H
CC transcripts and protein. The AA genotype occurs at high frequencies in
CC East Asian and Northern/Western European populations, but is rare in
CC the Yoruba (West African) population. {ECO:0000269|PubMed:26221034}.
CC -!- SIMILARITY: Belongs to the CD300 family. {ECO:0000305}.
CC -!- CAUTION: The reference genome assembly (GRCh38.p12) represents the 'A'
CC allele (NM_001324073.1:c.61+1A>G) which abolishes the intron 1 donor
CC splice site leading to loss of CD300H transcripts and protein.
CC {ECO:0000305|PubMed:26221034}.
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DR EMBL; LC013475; BAS22088.1; -; mRNA.
DR EMBL; LC013476; BAS22089.1; -; mRNA.
DR EMBL; AC079325; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS86635.1; -. [A0A0K2S4Q6-2]
DR CCDS; CCDS86636.1; -. [A0A0K2S4Q6-1]
DR RefSeq; NP_001311002.1; NM_001324073.1. [A0A0K2S4Q6-1]
DR RefSeq; NP_001311005.1; NM_001324076.1. [A0A0K2S4Q6-2]
DR AlphaFoldDB; A0A0K2S4Q6; -.
DR SMR; A0A0K2S4Q6; -.
DR IntAct; A0A0K2S4Q6; 2.
DR GlyGen; A0A0K2S4Q6; 1 site.
DR BioMuta; ENSG00000284690; -.
DR MassIVE; A0A0K2S4Q6; -.
DR PeptideAtlas; A0A0K2S4Q6; -.
DR DNASU; 100130520; -.
DR Ensembl; ENST00000641031.1; ENSP00000492997.1; ENSG00000284690.3. [A0A0K2S4Q6-2]
DR Ensembl; ENST00000641710.1; ENSP00000492977.1; ENSG00000284690.3. [A0A0K2S4Q6-1]
DR GeneID; 100130520; -.
DR KEGG; hsa:100130520; -.
DR CTD; 100130520; -.
DR GeneCards; CD300H; -.
DR HGNC; HGNC:52292; CD300H.
DR MIM; 616560; gene.
DR neXtProt; NX_A0A0K2S4Q6; -.
DR VEuPathDB; HostDB:ENSG00000284690; -.
DR GeneTree; ENSGT00940000163948; -.
DR OMA; RPWRTPW; -.
DR OrthoDB; 1494510at2759; -.
DR PathwayCommons; A0A0K2S4Q6; -.
DR BioGRID-ORCS; 100130520; 1 hit in 3 CRISPR screens.
DR Pharos; A0A0K2S4Q6; Tbio.
DR PRO; PR:A0A0K2S4Q6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000284690; Expressed in monocyte and 77 other tissues.
DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; IBA:GO_Central.
DR GO; GO:0030593; P:neutrophil chemotaxis; IDA:UniProtKB.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR013106; Ig_V-set.
DR Pfam; PF07686; V-set; 1.
DR SMART; SM00409; IG; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Immunoglobulin domain;
KW Membrane; Reference proteome; Secreted; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..201
FT /note="Protein CD300H"
FT /id="PRO_5014029141"
FT TOPO_DOM 25..168
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 169..189
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 190..201
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 25..123
FT /note="Ig-like V-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT CARBOHYD 100
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00498"
FT DISULFID 43..111
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 140..153
FT /note="ASSTENSVKTPASP -> GPCPAAPASCFSHS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:26221034"
FT /id="VSP_059910"
FT VAR_SEQ 154..201
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:26221034"
FT /id="VSP_059911"
SQ SEQUENCE 201 AA; 21806 MW; 935CF5928B5622DE CRC64;
MTQRAGAAML PSALLLLCVP GCLTVSGPST VMGAVGESLS VQCRYEEKYK TFNKYWCRQP
CLPIWHEMVE TGGSEGVVRS DQVIITDHPG DLTFTVTLEN LTADDAGKYR CGIATILQED
GLSGFLPDPF FQVQVLVSSA SSTENSVKTP ASPTRPSQCQ GSLPSSTCFL LLPLLKVPLL
LSILGAILWV NRPWRTPWTE S
