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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
    mouse all
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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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