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    SLA Src like adaptor [ Homo sapiens (human) ]

    Gene ID: 6503, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLAprovided by HGNC
    Official Full Name
    Src like adaptorprovided by HGNC
    Primary source
    HGNC:HGNC:10902
    See related
    Ensembl:ENSG00000155926 MIM:601099; AllianceGenome:HGNC:10902
    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
    SLA1; SLAP
    Summary
    Predicted to enable epidermal growth factor receptor binding activity and phosphotyrosine residue binding activity. Predicted to be involved in regulation of MAPK cascade and signal transduction. Predicted to be located in cytosol. Predicted to be part of COP9 signalosome. Predicted to be active in cytoplasm; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in appendix (RPKM 40.5), lymph node (RPKM 30.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLA in Genome Data Viewer
    Location:
    8q24.22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (133036728..133102602, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (134160152..134225947, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (134048973..134114846, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene thyroglobulin Neighboring gene uncharacterized LOC105375768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27992 Neighboring gene ribosomal protein L21 pseudogene 78 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:134061257-134062456 Neighboring gene microRNA 7848 Neighboring gene papillary thyroid carcinoma susceptibility candidate 1 Neighboring gene uncharacterized LOC105375769 Neighboring gene NANOG hESC enhancer GRCh37_chr8:134157066-134157567 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134194436-134195635 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:134204154-134204401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134208271-134208770 Neighboring gene uncharacterized LOC102723635 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134224019-134225218 Neighboring gene cellular communication network factor 4

    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 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?
    1. SLAP Is a Negative Regulator of FcepsilonRI Receptor-Mediated Signaling and Allergic Response.
      Title: SLAP Is a Negative Regulator of FcεRI Receptor-Mediated Signaling and Allergic Response.
    2. results suggest that cytoplasm-specific transduction of the SH3 and SH2 domains of SLAP has a therapeutic potential of being an immunosuppressive reagent for the treatment of various autoimmune diseases
      Title: Intracellular cytoplasm-specific delivery of SH3 and SH2 domains of SLAP inhibits TcR-mediated signaling.
    3. Taken together the data demonstrate that SLAP negatively regulates wild-type c-Kit signaling, but not its oncogenic counterpart, indicating a possible mechanism by which the oncogenic c-Kit bypasses the normal cellular negative feedback control
      Title: Src-like-adaptor protein (SLAP) differentially regulates normal and oncogenic c-Kit signaling.
    4. upon ligand stimulation SLAP stably associates with Flt3 through multiple phosphotyrosine residues in Flt3. SLAP mRNA is differentially expressed in different cancers and its expression significantly increased in patients carrying the Flt3-ITD mutation
      Title: Src-Like adaptor protein (SLAP) binds to the receptor tyrosine kinase Flt3 and modulates receptor stability and downstream signaling.
    5. These data provide evidence for src-like adaptor protein-dependent regulation of CD3 zeta-chain in the fine control of TCR signaling.
      Title: CD3ζ-chain expression of human T lymphocytes is regulated by TNF via Src-like adaptor protein-dependent proteasomal degradation.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Although SLA is a prominent glucocorticoids response gene, it does not seem to contribute to the anti-leukemic effects of glucocorticoids.
      Title: Functional analyses of Src-like adaptor (SLA), a glucocorticoid-regulated gene in acute lymphoblastic leukemia.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    9. The SLA molecule and its functionally relevant residues have been highly conserved throughout the evolution.
      Title: Characterization of human gene encoding SLA/LP autoantigen and its conserved homologs in mouse, fish, fly, and worm.
    Submit: New GeneRIF Correction

    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
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    EBI GWAS Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    EBI GWAS Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    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 epidermal growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphotyrosine residue binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of COP9 signalosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    src-like-adapter
    Names
    SLAP-1
    hSLAP
    src-like-adapter protein 1

    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_001045556.3 → NP_001039021.1  src-like-adapter isoform a

      See identical proteins and their annotated locations for NP_001039021.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (a).
      Source sequence(s)
      BX648382, D89077, DB265860, U44403
      Consensus CDS
      CCDS6370.1
      UniProtKB/Swiss-Prot
      B7Z4J2, B7Z4L6, Q13239, Q6FI01, Q9UMQ8
      UniProtKB/TrEMBL
      Q5TZW1
      Related
      ENSP00000337548.5, ENST00000338087.10
      Conserved Domains (2) summary
      cd10344
      Location:73 → 170
      SH2_SLAP; Src homology 2 domain found in Src-like adaptor proteins
      cd12010
      Location:26 → 80
      SH3_SLAP; Src homology 3 domain of Src-Like Adaptor Protein

    2. NM_001045557.3 → NP_001039022.2  src-like-adapter isoform b

      See identical proteins and their annotated locations for NP_001039022.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate 5' exon and uses an upstream translation initiation codon, compared to variant 1. The resulting isoform (b) is longer at the N-terminus, compared to isoform a.
      Source sequence(s)
      AF305872, BX648382, U44403
      Consensus CDS
      CCDS47922.1
      UniProtKB/TrEMBL
      Q5TZW1
      Related
      ENSP00000378759.3, ENST00000395352.7
      Conserved Domains (2) summary
      cd10344
      Location:90 → 187
      SH2_SLAP; Src homology 2 domain found in Src-like adaptor proteins
      cd12010
      Location:43 → 97
      SH3_SLAP; Src homology 3 domain of Src-Like Adaptor Protein

    3. NM_001282964.2 → NP_001269893.1  src-like-adapter isoform d

      See identical proteins and their annotated locations for NP_001269893.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame exon in the centtral coding region compared to variant 1. These differences result in the use of an upstream start codon compared to varian 1. The encoded isoform (d) is shorter but has an extended N-terminus compare to isoform a.
      Source sequence(s)
      AF305872, AK297423, AW137142
      Consensus CDS
      CCDS64978.1
      UniProtKB/TrEMBL
      Q5TZW1
      Related
      ENSP00000428559.1, ENST00000517648.5
      Conserved Domains (2) summary
      cd12010
      Location:43 → 97
      SH3_SLAP; Src homology 3 domain of Src-Like Adaptor Protein
      cl15255
      Location:90 → 134
      SH2; Src homology 2 (SH2) domain

    4. NM_001282965.2 → NP_001269894.1  src-like-adapter isoform e

      See identical proteins and their annotated locations for NP_001269894.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' UTR which results in the use of an downstream start codon compared to variant 1. The encodoed isoform (e) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AF305872, AK297519, AW137142
      Consensus CDS
      CCDS64977.1
      UniProtKB/Swiss-Prot
      Q13239
      Related
      ENSP00000427928.1, ENST00000524345.5
      Conserved Domains (1) summary
      cl15255
      Location:1 → 62
      SH2; Src homology 2 (SH2) domain

    5. NM_006748.4 → NP_006739.2  src-like-adapter isoform c

      See identical proteins and their annotated locations for NP_006739.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (c) is longer at the N-terminus, compared to isoform a.
      Source sequence(s)
      AF305872, BC007042, BX648382, DA999385, U44403
      Consensus CDS
      CCDS47923.1
      UniProtKB/TrEMBL
      Q5TZW1
      Related
      ENSP00000394049.2, ENST00000427060.6
      Conserved Domains (2) summary
      cd10344
      Location:113 → 210
      SH2_SLAP; Src homology 2 domain found in Src-like adaptor proteins
      cd12010
      Location:66 → 120
      SH3_SLAP; Src homology 3 domain of Src-Like Adaptor Protein

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      133036728..133102602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422110.1 → XP_047278066.1  src-like-adapter isoform X3

    2. XM_047422107.1 → XP_047278063.1  src-like-adapter isoform X1

      UniProtKB/Swiss-Prot
      B7Z4J2, B7Z4L6, Q13239, Q6FI01, Q9UMQ8

    3. XM_047422108.1 → XP_047278064.1  src-like-adapter isoform X2

    4. XM_047422109.1 → XP_047278065.1  src-like-adapter isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      134160152..134225947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361024.1 → XP_054216999.1  src-like-adapter isoform X3

    2. XM_054361021.1 → XP_054216996.1  src-like-adapter isoform X1

      UniProtKB/Swiss-Prot
      B7Z4J2, B7Z4L6, Q13239, Q6FI01, Q9UMQ8

    3. XM_054361022.1 → XP_054216997.1  src-like-adapter isoform X2

    4. XM_054361023.1 → XP_054216998.1  src-like-adapter isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13239.3 GenPept UniProtKB/Swiss-Prot:Q13239

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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