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SLAMF7 SLAM family member 7 [ Homo sapiens (human) ]

Gene ID: 57823, updated on 27-Nov-2024

Summary

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Official Symbol
SLAMF7provided by HGNC
Official Full Name
SLAM family member 7provided by HGNC
Primary source
HGNC:HGNC:21394
See related
Ensembl:ENSG00000026751 MIM:606625; AllianceGenome:HGNC:21394
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
19A; CS1; CD319; CRACC
Summary
Enables identical protein binding activity. Predicted to be involved in T cell activation. Predicted to act upstream of or within regulation of natural killer cell activation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in lymph node (RPKM 22.3), appendix (RPKM 19.3) and 13 other tissues See more
Orthologs
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Genomic context

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See SLAMF7 in Genome Data Viewer
Location:
1q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160739057..160754821)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159876146..159891896)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160708847..160724611)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160644012-160644628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1944 Neighboring gene endogenous retrovirus group K member 18 Env polyprotein Neighboring gene SET pseudogene 9 Neighboring gene CD48 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1947 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:160695816-160696558 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:160696559-160697302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1951 Neighboring gene uncharacterized LOC124904440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1955 Neighboring gene uncharacterized LOC105371470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:160751105-160751606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1958 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:160759219-160759411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1961 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:160771561-160771810 Neighboring gene lymphocyte antigen 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification and elucidation of cross talk between SLAM Family Member 7 (SLAMF7) and Toll-like receptor (TLR) pathways in monocytes and macrophages. Choe U, et al. Sci Rep, 2023 Jul 7. PMID 37420084, Free PMC Article
  2. Molecular cloning of CS1, a novel human natural killer cell receptor belonging to the CD2 subset of the immunoglobulin superfamily. Boles KS, et al. Immunogenetics, 2001. PMID 11220635
  3. Activation of NK cell-mediated cytotoxicity by a SAP-independent receptor of the CD2 family. Bouchon A, et al. J Immunol, 2001 Nov 15. PMID 11698418
  4. A novel immunoglobulin superfamily receptor (19A) related to CD2 is expressed on activated lymphocytes and promotes homotypic B-cell adhesion. Murphy JJ, et al. Biochem J, 2002 Feb 1. PMID 11802771, Free PMC Article
  5. Molecular and functional characterization of a CS1 (CRACC) splice variant expressed in human NK cells that does not contain immunoreceptor tyrosine-based switch motifs. Lee JK, et al. Eur J Immunol, 2004 Oct. PMID 15368295

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SLAMF7 as a Promising Immunotherapeutic Target in Multiple Myeloma Treatments.
    Title: SLAMF7 as a Promising Immunotherapeutic Target in Multiple Myeloma Treatments.
  2. Identification and elucidation of cross talk between SLAM Family Member 7 (SLAMF7) and Toll-like receptor (TLR) pathways in monocytes and macrophages.
    Title: Identification and elucidation of cross talk between SLAM Family Member 7 (SLAMF7) and Toll-like receptor (TLR) pathways in monocytes and macrophages.
  3. SLAMF7 modulates B cells and adaptive immunity to regulate susceptibility to CNS autoimmunity.
    Title: SLAMF7 modulates B cells and adaptive immunity to regulate susceptibility to CNS autoimmunity.
  4. SLAMF7 engagement superactivates macrophages in acute and chronic inflammation.
    Title: SLAMF7 engagement superactivates macrophages in acute and chronic inflammation.
  5. SLAMF7 selectively favors degranulation to promote cytotoxicity in human NK cells.
    Title: SLAMF7 selectively favors degranulation to promote cytotoxicity in human NK cells.
  6. CD319 (SLAMF7) an alternative marker for detecting plasma cells in the presence of daratumumab or elotuzumab.
    Title: CD319 (SLAMF7) an alternative marker for detecting plasma cells in the presence of daratumumab or elotuzumab.
  7. SLAMF7 and TREM1 Mediate Immunogenic Cell Death in Colorectal Cancer Cells: Focus on Microsatellite Stability.
    Title: SLAMF7 and TREM1 Mediate Immunogenic Cell Death in Colorectal Cancer Cells: Focus on Microsatellite Stability.
  8. Combinatorial targeting of multiple myeloma by complementing T cell engaging antibody fragments.
    Title: Combinatorial targeting of multiple myeloma by complementing T cell engaging antibody fragments.
  9. Association of circulating SLAMF7(+)Tfh1 cells with IgG4 levels in patients with IgG4-related disease.
    Title: Association of circulating SLAMF7(+)Tfh1 cells with IgG4 levels in patients with IgG4-related disease.
  10. SLAMF7 Signaling Reprograms T Cells toward Exhaustion in the Tumor Microenvironment.
    Title: SLAMF7 Signaling Reprograms T Cells toward Exhaustion in the Tumor Microenvironment.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell activation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in natural killer cell activation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in natural killer cell mediated cytotoxicity NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in external side of 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
SLAM family member 7
Names
19A24 protein
CD2 subset 1
CD2-like receptor activating cytotoxic cells
membrane protein FOAP-12
novel LY9 (lymphocyte antigen 9) like protein
protein 19A

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)

  1. NM_001282588.2 → NP_001269517.1  SLAM family member 7 isoform b precursor

    See identical proteins and their annotated locations for NP_001269517.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks three alternate exons, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK298548, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS60323.1
    UniProtKB/Swiss-Prot
    Q9NQ25
    Related
    ENSP00000416592.2, ENST00000444090.6
    Conserved Domains (2) summary
    cd05775
    Location:31 → 125
    Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
    smart00410
    Location:27 → 104
    IG_like; Immunoglobulin like

  2. NM_001282589.2 → NP_001269518.1  SLAM family member 7 isoform c precursor

    See identical proteins and their annotated locations for NP_001269518.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AK298499, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS60322.1
    UniProtKB/Swiss-Prot
    Q9NQ25
    Related
    ENSP00000405605.2, ENST00000441662.6
    Conserved Domains (2) summary
    cd05775
    Location:31 → 125
    Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
    smart00410
    Location:27 → 104
    IG_like; Immunoglobulin like

  3. NM_001282590.2 → NP_001269519.1  SLAM family member 7 isoform d precursor

    See identical proteins and their annotated locations for NP_001269519.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (d) that is shorter than isoform a.
    Source sequence(s)
    AL121985, AL834424, BQ000581, DC388332
    Consensus CDS
    CCDS60324.1
    UniProtKB/TrEMBL
    A8K7T2
    Related
    ENSP00000357021.3, ENST00000368042.7

  4. NM_001282591.2 → NP_001269520.1  SLAM family member 7 isoform e precursor

    See identical proteins and their annotated locations for NP_001269520.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in both the 5' and central coding regions, compared to variant 1, resulting in an isoform (e) that is shorter than isoform a.
    Source sequence(s)
    AK301438, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS60325.1
    UniProtKB/TrEMBL
    A8K7T2
    Related
    ENSP00000409965.2, ENST00000458602.6

  5. NM_001282592.2 → NP_001269521.1  SLAM family member 7 isoform f precursor

    See identical proteins and their annotated locations for NP_001269521.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (f, also known as CS1-S) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK290706, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS60321.1
    UniProtKB/Swiss-Prot
    Q9NQ25
    Related
    ENSP00000352281.4, ENST00000359331.8
    Conserved Domains (1) summary
    cl11960
    Location:31 → 125
    Ig; Immunoglobulin domain

  6. NM_001282593.2 → NP_001269522.1  SLAM family member 7 isoform g precursor

    See identical proteins and their annotated locations for NP_001269522.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 5' coding region, and also lacks two alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (g) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK301137, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS72956.1
    UniProtKB/TrEMBL
    B4DVL7
    Related
    ENSP00000403294.2, ENST00000458104.6

  7. NM_001282594.2 → NP_001269523.1  SLAM family member 7 isoform h precursor

    See identical proteins and their annotated locations for NP_001269523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (h) is shorter than isoform a.
    Source sequence(s)
    AK301432, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS72957.1
    UniProtKB/TrEMBL
    A8K7T2, B4DW98
    Related
    ENSP00000483774.1, ENST00000621377.4

  8. NM_001282595.1 → NP_001269524.1  SLAM family member 7 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame translational start codon, compared to variant 1. The encoded isoform (i) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AB027233, AL121985, BQ000581, DA978435, DA978525
    UniProtKB/TrEMBL
    A8K7T2

  9. NM_001282596.2 → NP_001269525.1  SLAM family member 7 isoform j precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) lacks an alternate in-frame exon in the 5' coding region, and also lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (j) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AL121985, BQ000581, DA644251, DC388332

  10. NM_021181.5 → NP_067004.3  SLAM family member 7 isoform a precursor

    See identical proteins and their annotated locations for NP_067004.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as CS1-L).
    Source sequence(s)
    AB027233, AL121985, BQ000581, DC388332
    Consensus CDS
    CCDS1209.1
    UniProtKB/Swiss-Prot
    A8K3U1, B4DPU4, B4DPY3, B4DWA3, Q8N6Y8, Q8ND32, Q9NQ25, Q9NY08, Q9NY23
    UniProtKB/TrEMBL
    A8K7Y3
    Related
    ENSP00000357022.3, ENST00000368043.8
    Conserved Domains (2) summary
    cd05775
    Location:31 → 125
    Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
    smart00410
    Location:27 → 104
    IG_like; Immunoglobulin like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    160739057..160754821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509828.1 → XP_011508130.1  SLAM family member 7 isoform X1

    UniProtKB/TrEMBL
    A8K7Y3
    Conserved Domains (2) summary
    cd05775
    Location:31 → 125
    Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
    smart00410
    Location:27 → 104
    IG_like; Immunoglobulin like

  2. XM_011509829.1 → XP_011508131.1  SLAM family member 7 isoform X2

    Conserved Domains (2) summary
    cd05775
    Location:31 → 125
    Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
    smart00410
    Location:27 → 104
    IG_like; Immunoglobulin like

  3. XM_047426359.1 → XP_047282315.1  SLAM family member 7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159876146..159891896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337936.1 → XP_054193911.1  SLAM family member 7 isoform X1

  2. XM_054337937.1 → XP_054193912.1  SLAM family member 7 isoform X2

  3. XM_054337938.1 → XP_054193913.1  SLAM family member 7 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NQ25.1 GenPept UniProtKB/Swiss-Prot:Q9NQ25

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