Q9UGN4 (CLM8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	299 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Cell adhesion Immunity
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Immunoglobulin domain Signal Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 17

17

Potential

Chain

18 – 299

282

CMRF35-like molecule 8

PRO_0000014682

Regions

Topological domain

18 – 180

163

Extracellular Potential

Transmembrane

181 – 201

21

Helical; Potential

Topological domain

202 – 299

98

Cytoplasmic Potential

Domain

19 – 123

105

Ig-like V-type

Amino acid modifications

Glycosylation

83

1

N-linked (GlcNAc...) Potential

Glycosylation

92

1

N-linked (GlcNAc...) Potential

Disulfide bond

36 ↔ 103

Potential

Natural variations

Alternative sequence

14 – 209

196

Missing in isoform 3.

VSP_010558

Alternative sequence

14 – 126

113

Missing in isoform 2 and isoform 4.

VSP_010559

Alternative sequence

223 – 258

36

Missing in isoform 4.

VSP_041246

Natural variant

111

1

R → Q. Ref.2 Ref.10
Corresponds to variant rs2272111 [ dbSNP | Ensembl ].

VAR_030797

Experimental info

Sequence conflict

28 – 29

2

VG → W in AAD01646. Ref.3

Sequence conflict

28 – 29

2

VG → W in AAF89957. Ref.4

Sequence conflict

39

1

E → Q in AAF89957. Ref.4

Sequence conflict

189

1

L → M in AAF28906. Ref.5

Sequence conflict

193

1

L → M in AAF28906. Ref.5

Sequence conflict

209

1

K → KWIK in AAD01646. Ref.3

Sequence conflict

260

1

S → F in AAF28906. Ref.5

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

299

Helix Strand Turn

Details...

Beta strand

20 – 27

8

Beta strand

32 – 37

6

Helix

40 – 42

3

Beta strand

45 – 51

7

Beta strand

54 – 57

4

Beta strand

61 – 66

6

Beta strand

70 – 72

3

Beta strand

75 – 80

6

Helix

81 – 83

3

Beta strand

85 – 92

8

Helix

95 – 97

3

Beta strand

99 – 106

8

Beta strand

117 – 125

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (IRC1a) [UniParc]. Last modified February 20, 2007. Version 2. Checksum: 978461DA87E86269	FASTA	299	33,201
	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
	Isoform 2 (IRC1c) [UniParc]. Checksum: 00D5E9379190EEEE	FASTA	186	20,640
	10 20 30 40 50 60 MWLPWALLLL WVPASTSMTP ASITAAKTST ITTAFPPVSS TTLFAVGATH SASIQEETEE 70 80 90 100 110 120 VVNSQLPLLL SLLALLLLLL VGASLLAWRM FQKWIKAGDH SELSQNPKQA ATQSELHYAN 130 140 150 160 170 180 LELLMWPLQE KPAPPREVEV EYSTVASPRE ELHYASVVFD SNTNRIAAQR PREEEPDSDY SVIRKT
	Isoform 3 (IRC1b) [UniParc]. Checksum: B65239E9760E47AB	FASTA	103	11,870
	10 20 30 40 50 60 MWLPWALLLL WVPAGDHSEL SQNPKQAATQ SELHYANLEL LMWPLQEKPA PPREVEVEYS 70 80 90 100 TVASPREELH YASVVFDSNT NRIAAQRPRE EEPDSDYSVI RKT
	Isoform 4 [UniParc]. Checksum: ED357EBD18A30FF0	FASTA	150	16,517
	10 20 30 40 50 60 MWLPWALLLL WVPASTSMTP ASITAAKTST ITTAFPPVSS TTLFAVGATH SASIQEETEE 70 80 90 100 110 120 VVNSQLPLLL SLLALLLLLL VGASLLAWRM FQKWIKAGDH SELSQNPKQA SPREELHYAS 130 140 150 VVFDSNTNRI AAQRPREEEP DSDYSVIRKT

References

	« Hide 'large scale' referencesShow '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. , 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 , 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.

IPI

IPI00054095.
IPI00384625.
IPI00414784.
IPI00797111.

RefSeq

NP_001243770.1. NM_001256841.1.
NP_009192.2. NM_007261.3.

UniGene

Hs.9688.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2Q87	X-ray	1.70	A/B/C	19-128	[»]

ProteinModelPortal

Q9UGN4.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000353259.

PTM databases

PhosphoSite

Q9UGN4.

Polymorphism databases

DMDM

126302534.

Proteomic databases

PaxDb

Q9UGN4.

PeptideAtlas

Q9UGN4.

PRIDE

Q9UGN4.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000310828; ENSP00000308188; ENSG00000167851.
ENST00000360141; ENSP00000353259; ENSG00000167851.
ENST00000361933; ENSP00000354564; ENSG00000167851.
ENST00000392625; ENSP00000376401; ENSG00000167851.

GeneID

11314.

KEGG

hsa:11314.

UCSC

uc002jkv.3. human.
uc002jkw.3. human.
uc010dfr.3. human.
uc010dfs.3. human.

Organism-specific databases

CTD

11314.

GeneCards

GC17P072462.

HGNC

HGNC:19319. CD300A.

HPA

HPA011645.

MIM

606790. gene.

neXtProt

NX_Q9UGN4.

PharmGKB

PA142672149.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG42608.

HOVERGEN

HBG100050.

InParanoid

Q9UGN4.

KO

K06719.

OMA

LLAWRMF.

OrthoDB

EOG4VMFG6.

Gene expression databases

Bgee

Q9UGN4.

CleanEx

HS_CD300A.

Genevestigator

Q9UGN4.

GermOnline

ENSG00000167851. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 1 hit.

InterPro

IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]

Pfam

PF07686. V-set. 1 hit.
[Graphical view]

SMART

SM00409. IG. 1 hit.
[Graphical view]

PROSITE

PS50835. IG_LIKE. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9UGN4.

GenomeRNAi

11314.

NextBio

42979.

SOURCE

Search...

Entry information

Entry name

CLM8_HUMAN

Accession

Primary (citable) accession number: Q9UGN4
Secondary accession number(s): A8MW96 , O95100, Q9HD97, Q9P0F3, Q9UBK4, Q9UMS9, Q9UMT0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 7, 2004
Last sequence update:	February 20, 2007
Last modified:	May 1, 2013
This is version 105 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.