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Q9UGN4 (CLM8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
CMRF35-like molecule 8

Short name=CLM-8
Alternative name(s):
CD300 antigen-like family member A
CMRF-35-H9
Short name=CMRF35-H9
CMRF35-H
IRC1/IRC2
Immunoglobulin superfamily member 12
Short name=IgSF12
Inhibitory receptor protein 60
Short name=IRp60
NK inhibitory receptor
CD_antigen=CD300a
Gene names
Name:CD300A
Synonyms:CMRF35H, IGSF12
ORF Names:HSPC083
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length299 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation. Ref.3 Ref.4 Ref.8

Subunit structure

Upon tyrosine-phosphorylation, interacts with PTN6/SHP-1 and PTPN11/SHP-2 and INPP5D.

Subcellular location

Cell membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Expressed not only by natural killer (NK) cells but also by T-cell subsets, B-cells, dendritic cells, mast cells, granulocytes and monocytes. Ref.1 Ref.3 Ref.8

Post-translational modification

Phosphorylated on tyrosine. Ref.1 Ref.8

Sequence similarities

Belongs to the CD300 family.

Contains 1 Ig-like V-type (immunoglobulin-like) domain.

Sequence caution

The sequence AAF28906.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAF28906.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
   Biological processCell adhesion
Immunity
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainImmunoglobulin domain
Signal
Transmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

immune system process

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of B cell proliferation

Inferred from mutant phenotype PubMed 21482706. Source: UniProt

negative regulation of B cell receptor signaling pathway

Inferred from direct assay PubMed 21482706. Source: UniProt

negative regulation of MAP kinase activity

Inferred from direct assay PubMed 16254138. Source: UniProt

negative regulation of NK T cell activation

Inferred from direct assay Ref.1. Source: UniProt

negative regulation of activation of JAK2 kinase activity

Inferred from direct assay PubMed 16254138. Source: UniProt

negative regulation of eosinophil activation

Inferred from direct assay PubMed 16254138. Source: UniProt

negative regulation of eosinophil migration

Inferred from direct assay PubMed 16254138. Source: UniProt

negative regulation of fibroblast proliferation

Inferred from direct assay PubMed 16254138. Source: UniProt

negative regulation of mast cell activation involved in immune response

Inferred from direct assay Ref.8. Source: UniProt

negative regulation of mast cell degranulation

Inferred from direct assay Ref.8. Source: UniProt

negative regulation of neutrophil activation

Inferred from direct assay PubMed 17588661. Source: UniProt

negative regulation of phagocytosis, engulfment

Inferred from mutant phenotype PubMed 22302738. Source: UniProt

positive regulation of phosphoprotein phosphatase activity

Inferred from direct assay Ref.8. Source: UniProt

regulation of T cell receptor signaling pathway

Inferred from direct assay PubMed 22046970. Source: UniProt

signal transduction

Inferred from direct assay Ref.8PubMed 22046970. Source: GOC

   Cellular_componentextracellular vesicular exosome

Inferred from direct assay PubMed 20458337PubMed 23376485. Source: UniProt

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

membrane

Inferred from direct assay Ref.1Ref.8PubMed 21482706. Source: UniProt

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionphosphatidylethanolamine binding

Inferred from direct assay PubMed 22302738. Source: UniProt

phosphatidylserine binding

Inferred from direct assay PubMed 22302738. Source: UniProt

protein binding

Inferred from physical interaction Ref.1PubMed 16254138Ref.8. Source: UniProt

signaling receptor activity

Inferred from direct assay Ref.8PubMed 22046970. Source: UniProt

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UGN4-1)

Also known as: IRC1a;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9UGN4-2)

Also known as: IRC1c;

The sequence of this isoform differs from the canonical sequence as follows:
     14-126: Missing.
Isoform 3 (identifier: Q9UGN4-3)

Also known as: IRC1b;

The sequence of this isoform differs from the canonical sequence as follows:
     14-209: Missing.
Isoform 4 (identifier: Q9UGN4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     14-126: Missing.
     223-258: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 299282CMRF35-like molecule 8
PRO_0000014682

Regions

Topological domain18 – 180163Extracellular Potential
Transmembrane181 – 20121Helical; Potential
Topological domain202 – 29998Cytoplasmic Potential
Domain19 – 123105Ig-like V-type

Amino acid modifications

Modified residue2931Phosphotyrosine By similarity
Glycosylation831N-linked (GlcNAc...) Potential
Glycosylation921N-linked (GlcNAc...) Potential
Disulfide bond36 ↔ 103 Potential

Natural variations

Alternative sequence14 – 209196Missing in isoform 3.
VSP_010558
Alternative sequence14 – 126113Missing in isoform 2 and isoform 4.
VSP_010559
Alternative sequence223 – 25836Missing in isoform 4.
VSP_041246
Natural variant1111R → Q. Ref.2 Ref.10
Corresponds to variant rs2272111 [ dbSNP | Ensembl ].
VAR_030797

Experimental info

Sequence conflict28 – 292VG → W in AAD01646. Ref.3
Sequence conflict28 – 292VG → W in AAF89957. Ref.4
Sequence conflict391E → Q in AAF89957. Ref.4
Sequence conflict1891L → M in AAF28906. Ref.5
Sequence conflict1931L → M in AAF28906. Ref.5
Sequence conflict2091K → KWIK in AAD01646. Ref.3
Sequence conflict2601S → F in AAF28906. Ref.5

Secondary structure

.......................... 299
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (IRC1a) [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 978461DA87E86269

FASTA29933,201
        10         20         30         40         50         60 
MWLPWALLLL WVPGCFALSK CRTVAGPVGG SLSVQCPYEK EHRTLNKYWC RPPQIFLCDK 

        70         80         90        100        110        120 
IVETKGSAGK RNGRVSIRDS PANLSFTVTL ENLTEEDAGT YWCGVDTPWL RDFHDPVVEV 

       130        140        150        160        170        180 
EVSVFPASTS MTPASITAAK TSTITTAFPP VSSTTLFAVG ATHSASIQEE TEEVVNSQLP 

       190        200        210        220        230        240 
LLLSLLALLL LLLVGASLLA WRMFQKWIKA GDHSELSQNP KQAATQSELH YANLELLMWP 

       250        260        270        280        290 
LQEKPAPPRE VEVEYSTVAS PREELHYASV VFDSNTNRIA AQRPREEEPD SDYSVIRKT 

« Hide

Isoform 2 (IRC1c) [UniParc].

Checksum: 00D5E9379190EEEE
Show »

FASTA18620,640
Isoform 3 (IRC1b) [UniParc].

Checksum: B65239E9760E47AB
Show »

FASTA10311,870
Isoform 4 [UniParc].

Checksum: ED357EBD18A30FF0
Show »

FASTA15016,517

References

« Hide 'large scale' references
[1]"Molecular and functional characterization of IRp60, a member of the immunoglobulin superfamily that functions as an inhibitory receptor in human NK cells."
Cantoni C., Bottino C., Augugliaro R., Morelli L., Marcenaro E., Castriconi R., Vitale M., Pende D., Sivori S., Millo R., Biassoni R., Moretta L., Moretta A.
Eur. J. Immunol. 29:3148-3159(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, PHOSPHORYLATION.
Tissue: Lymphoid tissue.
[2]"IRC1 isoforms."
Cantoni C., Biassoni R.
Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT GLN-111.
Tissue: Lymphoid tissue.
[3]"The CMRF-35 mAb recognizes a second leukocyte membrane molecule with a domain similar to the poly Ig receptor."
Green B.J., Clark G.J., Hart D.N.J.
Int. Immunol. 10:891-899(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
[4]"The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17."
Clark G.J., Green B.J., Hart D.N.J.
Tissue Antigens 55:101-109(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION.
[5]"Human partial CDS cloned from CD34+ stem cells."
Zhang Q.H., Ye M., Zhou J., Shen Y., Wu X.Y., Guan Z.Q., Wang L., Fan H.Y., Mao Y.F., Dai M., Huang Q.H., Chen S.J., Chen Z.
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Umbilical cord blood.
[6]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Blood.
[8]"The inhibitory receptor IRp60 (CD300a) is expressed and functional on human mast cells."
Bachelet I., Munitz A., Moretta A., Moretta L., Levi-Schaffer F.
J. Immunol. 175:7989-7995(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, PHOSPHORYLATION, TISSUE SPECIFICITY.
[9]"The crystal structure of IRp60 ectodomain."
Dimasi N., Marquez J.A.
Submitted (JUN-2007) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 19-128.
[10]"Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility."
Speckman R.A., Wright Daw J.A., Helms C., Duan S., Cao L., Taillon-Miller P., Kwok P.Y., Menter A., Bowcock A.M.
Hum. Genet. 112:34-41(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLN-111.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ238323 mRNA. Translation: CAB66145.1.
AJ010101 mRNA. Translation: CAB52291.1.
AJ010102 mRNA. Translation: CAB52292.1.
AJ010103 mRNA. Translation: CAB52293.1.
AJ224864 mRNA. Translation: CAB55347.1.
AF020314 mRNA. Translation: AAD01646.1.
AF176991 expand/collapse EMBL AC list , AF176985, AF176986, AF176987, AF176988, AF176989, AF176990 Genomic DNA. Translation: AAF89957.1.
AF161346 mRNA. Translation: AAF28906.1. Sequence problems.
AC079325 Genomic DNA. No translation available.
BC032352 mRNA. Translation: AAH32352.1.
CCDSCCDS32720.1. [Q9UGN4-1]
CCDS58590.1. [Q9UGN4-2]
RefSeqNP_001243770.1. NM_001256841.1. [Q9UGN4-2]
NP_009192.2. NM_007261.3. [Q9UGN4-1]
UniGeneHs.9688.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2Q87X-ray1.70A/B/C19-125[»]
ProteinModelPortalQ9UGN4.
SMRQ9UGN4. Positions 22-128.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000353259.

PTM databases

PhosphoSiteQ9UGN4.

Polymorphism databases

DMDM126302534.

Proteomic databases

PaxDbQ9UGN4.
PeptideAtlasQ9UGN4.
PRIDEQ9UGN4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310828; ENSP00000308188; ENSG00000167851. [Q9UGN4-2]
ENST00000360141; ENSP00000353259; ENSG00000167851. [Q9UGN4-1]
ENST00000361933; ENSP00000354564; ENSG00000167851. [Q9UGN4-3]
ENST00000392625; ENSP00000376401; ENSG00000167851. [Q9UGN4-4]
GeneID11314.
KEGGhsa:11314.
UCSCuc002jkv.4. human. [Q9UGN4-1]
uc002jkw.4. human. [Q9UGN4-2]
uc010dfr.4. human. [Q9UGN4-4]
uc010dfs.4. human. [Q9UGN4-3]

Organism-specific databases

CTD11314.
GeneCardsGC17P072462.
HGNCHGNC:19319. CD300A.
HPAHPA011645.
MIM606790. gene.
neXtProtNX_Q9UGN4.
PharmGKBPA142672149.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42608.
HOVERGENHBG100050.
InParanoidQ9UGN4.
KOK06719.
OMAYSVIRKT.
OrthoDBEOG7FFMST.
PhylomeDBQ9UGN4.
TreeFamTF334441.

Gene expression databases

ArrayExpressQ9UGN4.
BgeeQ9UGN4.
CleanExHS_CD300A.
GenevestigatorQ9UGN4.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamPF07686. V-set. 1 hit.
[Graphical view]
SMARTSM00409. IG. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9UGN4.
GeneWikiCD300A.
GenomeRNAi11314.
NextBio42979.
PROQ9UGN4.
SOURCESearch...

Entry information

Entry nameCLM8_HUMAN
AccessionPrimary (citable) accession number: Q9UGN4
Secondary accession number(s): A8MW96 expand/collapse secondary AC list , O95100, Q9HD97, Q9P0F3, Q9UBK4, Q9UMS9, Q9UMT0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries