CD300LF CD300 molecule like family member f [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD300LFprovided by HGNC
Official Full Name: CD300 molecule like family member fprovided by HGNC
Primary source: HGNC:HGNC:29883
See related: Ensembl:ENSG00000186074 MIM:609807; AllianceGenome:HGNC:29883
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLM1; NKIR; CLM-1; IREM1; LMIR3; CD300f; IREM-1; IgSF13
Summary: This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression: Biased expression in spleen (RPKM 9.3), bone marrow (RPKM 8.2) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (74694317..74712923, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (75585036..75603637, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (72690456..72709062, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CD300f signalling induces inhibitory human monocytes/macrophages.
Title: CD300f signalling induces inhibitory human monocytes/macrophages.
CD300a and CD300f molecules regulate the function of leukocytes.
Title: CD300a and CD300f molecules regulate the function of leukocytes.
Differential Lipid Recognition by Mouse versus Human CD300f, Inhibiting Passive Cutaneous Anaphylaxis, Depends on a Single Amino Acid Substitution in its Immunoglobulin-Like Domain.
Title: Differential Lipid Recognition by Mouse versus Human CD300f, Inhibiting Passive Cutaneous Anaphylaxis, Depends on a Single Amino Acid Substitution in its Immunoglobulin-Like Domain.
Single-nucleotide polymorphism in CD300f gene is associated with major depressive disorder.
Title: CD300f immunoreceptor is associated with major depressive disorder and decreased microglial metabolic fitness.
ceramide-CD300f interaction inhibits neutrophil recruitment to the sites of Gram-negative bacterial skin infections in mice.
Title: Role of the Ceramide-CD300f Interaction in Gram-Negative Bacterial Skin Infections.
this study demonstrates the role of CD300f in governing innate immune eosinophil activities in pediatric Crohn's disease patients and in active ulcerative colitis patients
Title: A key requirement for CD300f in innate immune responses of eosinophils in colitis.
findings suggest that two rare heterozygous truncating variations (RPS24 Q191X and CD300LF P261fsX266) are risk candidates for autism spectrum disorder.
Title: Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.
CD300 molecules are all expressed by DC; CD300b, d, e and f are restricted to different subpopulations of the myeloid DC lineage. They have been shown to regulate DC function both in vitro and in vivo.
Title: CD300 molecule regulation of human dendritic cell functions.
The data suggest that the neuroprotective role of CD300f would be the result of a complex network of cell interactions.
Title: Overexpression of the immunoreceptor CD300f has a neuroprotective role in a model of acute brain injury.
peptides containing ITIM-like sequences of IREM-1 (CD300F) differentially regulate MyD88 and TRIF-mediated TLR signalling
Title: Synthetic peptides containing ITIM-like sequences of IREM-1 (CD300F) differentially regulate MyD88 and TRIF-mediated TLR signalling through activation of SHP and/or PI3K.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ceramide binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables interleukin-4 receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in TRIF-dependent toll-like receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response-activating signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-13-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of MyD88-dependent toll-like receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic cell clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of mast cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic cell clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-4-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: CMRF35-like molecule 1

Names: CD300 antigen-like family member F; NK inhibitory receptor; immune receptor expressed on myeloid cells 1; immunoglobin superfamily member 13; immunoglobulin superfamily member 13; inhibitory receptor IREM1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001289082.2 → NP_001276011.1 CMRF35-like molecule 1 isoform 2

See identical proteins and their annotated locations for NP_001276011.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as sv3) differs in its 5' UTR, uses an alternate start codon, and lacks an exon in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

BC028199, BM680508, BM923728, DA673169

Consensus CDS

CCDS74148.1

UniProtKB/Swiss-Prot

Q8TDQ1

Related

ENSP00000463743.1, ENST00000469092.5

Conserved Domains (2) summary

cd05716
Location:30 → 128

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:28 → 128

IG_like; Immunoglobulin like
NM_001289083.2 → NP_001276012.1 CMRF35-like molecule 1 isoform 3 precursor

See identical proteins and their annotated locations for NP_001276012.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK092757, BI911496, BM680508, BM923728, BP226373

Consensus CDS

CCDS74151.1

UniProtKB/Swiss-Prot

Q8TDQ1

Related

ENSP00000301573.9, ENST00000301573.13

Conserved Domains (2) summary

cd05716
Location:27 → 125

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:25 → 125

IG_like; Immunoglobulin like
NM_001289084.2 → NP_001276013.1 CMRF35-like molecule 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (4) is longer, compared to isoform 1.

Source sequence(s)

AK298752, BI911496, BM680508, BM923728

Consensus CDS

CCDS74152.1

UniProtKB/TrEMBL

B4DQD2, J3KS52

Related

ENSP00000462309.1, ENST00000583937.5

Conserved Domains (3) summary

cd05716
Location:27 → 125

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:25 → 125

IG_like; Immunoglobulin like

pfam15330
Location:193 → 274

SIT; SHP2-interacting transmembrane adaptor protein, SIT
NM_001289085.2 → NP_001276014.1 CMRF35-like molecule 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as sv1) differs in its 5' UTR, and uses an alternate start codon, compared to variant 1. The encoded isoform (5) has a longer and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AF375480, BC028199, BI911496, BM680508, BM923728

Consensus CDS

CCDS74149.1

UniProtKB/TrEMBL

B4DQD2

Conserved Domains (3) summary

cd05716
Location:30 → 128

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:28 → 128

IG_like; Immunoglobulin like

pfam15330
Location:181 → 262

SIT; SHP2-interacting transmembrane adaptor protein, SIT
NM_001289086.2 → NP_001276015.1 CMRF35-like molecule 1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in its 5' UTR, uses an alternate start codon, and lacks an exon in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (6) is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

BC028199, BI911496, BM680508, BM923728, DQ153249

Consensus CDS

CCDS74150.1

UniProtKB/Swiss-Prot

Q8TDQ1

Related

ENSP00000355294.4, ENST00000361254.8

Conserved Domains (2) summary

cd05716
Location:30 → 128

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:28 → 128

IG_like; Immunoglobulin like
NM_001289087.2 → NP_001276016.1 CMRF35-like molecule 1 isoform 7 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an exon in the central coding region, which results in a frameshift, compared to variant (1). The encoded isoform (7) has a shorter and distinct C-terminus, compared to variant 1.

Source sequence(s)

BC028199, BI911496, BM680508, BM922663, BM923728

UniProtKB/Swiss-Prot

Q8TDQ1

Conserved Domains (2) summary

cd05716
Location:27 → 125

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:25 → 125

IG_like; Immunoglobulin like
NM_139018.5 → NP_620587.2 CMRF35-like molecule 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_620587.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AY358545, BM680508, BM923728, DA673169

Consensus CDS

CCDS11704.1

UniProtKB/Swiss-Prot

B2RCL2, C9JDN3, Q3Y6P0, Q6UX24, Q7Z6A6, Q7Z7I4, Q7Z7I5, Q8N6D0, Q8NAF5, Q8TDQ1

UniProtKB/TrEMBL

B4DQD2

Related

ENSP00000327075.6, ENST00000326165.11

Conserved Domains (3) summary

cd05716
Location:27 → 125

Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)

smart00410
Location:25 → 125

IG_like; Immunoglobulin like

pfam15330
Location:178 → 259

SIT; SHP2-interacting transmembrane adaptor protein, SIT

RNA

NR_110298.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8, also known as sv2) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF375481, BC028199, BI911496, BM680508, BM923728