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

Gene ID: 57823, updated on 7-Apr-2024

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; 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 adaptive immune response. Predicted to act upstream of or within regulation of natural killer cell activation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:
1q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160739057..160754821)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159876146..159891896)
105.20220307 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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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

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_001282588.2NP_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: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_001282589.2NP_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: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_001282590.2NP_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_001282591.2NP_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_001282592.2NP_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:31125
    Ig; Immunoglobulin domain
  6. NM_001282593.2NP_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_001282594.2NP_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_001282595.1NP_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/TrEMBL
    A8K7T2
  9. NM_001282596.2NP_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_021181.5NP_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: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: GCF_000001405.40-RS_2023_10

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_011509828.1XP_011508130.1  SLAM family member 7 isoform X1

    UniProtKB/TrEMBL
    A8K7Y3
    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. XM_011509829.1XP_011508131.1  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_047426359.1XP_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_054337936.1XP_054193911.1  SLAM family member 7 isoform X1

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

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