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

    Gene ID: 57823, updated on 5-Aug-2018

    Summary

    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; Vega:OTTHUMG00000024008
    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
    Expression
    Biased expression in lymph node (RPKM 22.3), appendix (RPKM 19.3) and 13 other tissues See more
    Orthologs

    Genomic context

    See SLAMF7 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (160739057..160754821)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160708865..160724611)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SET pseudogene 9 Neighboring gene CD48 molecule Neighboring gene uncharacterized LOC105371470 Neighboring gene lymphocyte antigen 9

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
      Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    natural killer cell activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    natural killer cell mediated cytotoxicity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_001282588.1NP_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, DA978435, DC388332
      Consensus CDS
      CCDS60323.1
      UniProtKB/Swiss-Prot
      Q9NQ25
      Related
      ENSP00000416592.2, ENST00000444090.6
      Conserved Domains (2) summary
      cd05775
      Location:31125
      Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
      smart00410
      Location:27104
      IG_like; Immunoglobulin like
    2. NM_001282589.1NP_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, DA978435, DC388332
      Consensus CDS
      CCDS60322.1
      UniProtKB/Swiss-Prot
      Q9NQ25
      Related
      ENSP00000405605.2, ENST00000441662.6
      Conserved Domains (2) summary
      cd05775
      Location:31125
      Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
      smart00410
      Location:27104
      IG_like; Immunoglobulin like
    3. NM_001282590.1NP_001269519.1  SLAM family member 7 isoform d

      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, DA978435, DC388332
      Consensus CDS
      CCDS60324.1
      UniProtKB/Swiss-Prot
      Q9NQ25
      Related
      ENSP00000357021.3, OTTHUMP00000025679, ENST00000368042.7, OTTHUMT00000060466
    4. NM_001282591.1NP_001269520.1  SLAM family member 7 isoform e

      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, DA978435, DC388332
      Consensus CDS
      CCDS60325.1
      UniProtKB/Swiss-Prot
      Q9NQ25
      Related
      ENSP00000409965.2, ENST00000458602.6
    5. NM_001282592.1NP_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, DA978435, DC388332
      Consensus CDS
      CCDS60321.1
      UniProtKB/Swiss-Prot
      Q9NQ25
      Related
      ENSP00000352281.4, OTTHUMP00000025678, ENST00000359331.8, OTTHUMT00000060465
      Conserved Domains (1) summary
      cl11960
      Location:31125
      Ig; Immunoglobulin domain
    6. NM_001282593.1NP_001269522.1  SLAM family member 7 isoform g

      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, DA978435, DC388332
      Consensus CDS
      CCDS72956.1
      UniProtKB/TrEMBL
      B4DVL7
      Related
      ENSP00000403294.2, ENST00000458104.6
    7. NM_001282594.1NP_001269523.1  SLAM family member 7 isoform h

      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, DA978435, DC388332
      Consensus CDS
      CCDS72957.1
      UniProtKB/TrEMBL
      B4DW98
      Related
      ENSP00000483774.1, ENST00000621377.4
    8. NM_001282595.1NP_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/Swiss-Prot
      Q9NQ25
    9. NM_001282596.1NP_001269525.1  SLAM family member 7 isoform j

      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, DA978435, DC388332
    10. NM_021181.4NP_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, DA978435, DC388332
      Consensus CDS
      CCDS1209.1
      UniProtKB/Swiss-Prot
      Q9NQ25
      Related
      ENSP00000357022.3, OTTHUMP00000025677, ENST00000368043.7, OTTHUMT00000060464
      Conserved Domains (2) summary
      cd05775
      Location:31125
      Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
      smart00410
      Location:27104
      IG_like; Immunoglobulin like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_024448757.1XP_024304525.1  SLAM family member 7 isoform X1

      Conserved Domains (1) summary
      cd16842
      Location:31125
      Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family
    2. XM_011509828.1XP_011508130.1  SLAM family member 7 isoform X2

      Conserved Domains (2) summary
      cd05775
      Location:31125
      Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
      smart00410
      Location:27104
      IG_like; Immunoglobulin like
    3. XM_011509829.1XP_011508131.1  SLAM family member 7 isoform X3

      Conserved Domains (2) summary
      cd05775
      Location:31125
      Ig_SLAM-CD84_like_N; N-terminal immunoglobulin (Ig)-like domain of the signaling lymphocyte activation molecule (SLAM) family, CD84_like
      smart00410
      Location:27104
      IG_like; Immunoglobulin like
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