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    STAC SH3 and cysteine rich domain [ Homo sapiens (human) ]

    Gene ID: 6769, updated on 3-Dec-2024

    Summary

    Official Symbol
    STACprovided by HGNC
    Official Full Name
    SH3 and cysteine rich domainprovided by HGNC
    Primary source
    HGNC:HGNC:11353
    See related
    Ensembl:ENSG00000144681 MIM:602317; AllianceGenome:HGNC:11353
    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
    STAC1
    Summary
    Predicted to enable transmembrane transporter binding activity. Predicted to be involved in positive regulation of protein localization to plasma membrane; positive regulation of voltage-gated calcium channel activity; and skeletal muscle contraction. Predicted to act upstream of or within cellular response to heat; muscle contraction; and regulation of voltage-gated calcium channel activity. Predicted to be located in cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 5.7), lung (RPKM 4.4) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAC in Genome Data Viewer
    Location:
    3p22.3-p22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36380504..36548007)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36381995..36549211)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (36421996..36589499)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 17 Neighboring gene replication factor C 3 pseudogene 1 Neighboring gene uncharacterized LOC124906227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:36440011-36440511 Neighboring gene MPRA-validated peak4610 silencer Neighboring gene NBPF member 21, pseudogene Neighboring gene RN7SK pseudogene 227

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32331

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    SH3 and cysteine-rich domain-containing protein
    Names
    SRC homology 3 and cysteine-rich domain-containing protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001292049.2NP_001278978.1  SH3 and cysteine-rich domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_001278978.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two coding exons compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AK299160, AW137199, BC020221, DC351652
      Consensus CDS
      CCDS77722.1
      UniProtKB/TrEMBL
      B4DR96, E9PEA7
      Related
      ENSP00000393713.2, ENST00000457375.6
      Conserved Domains (4) summary
      cd11833
      Location:228280
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd11834
      Location:287337
      SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
      pfam16664
      Location:130176
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
      cl00040
      Location:108128
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    2. NM_003149.3NP_003140.1  SH3 and cysteine-rich domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_003140.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AW137199, BC020221, DC351652
      Consensus CDS
      CCDS2662.1
      UniProtKB/Swiss-Prot
      B2R8S8, Q99469
      UniProtKB/TrEMBL
      Q8WUK8
      Related
      ENSP00000273183.3, ENST00000273183.8
      Conserved Domains (4) summary
      cd11833
      Location:289341
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd11834
      Location:348398
      SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
      cd00029
      Location:108159
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam16664
      Location:166237
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      36380504..36548007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448767.1XP_047304723.1  SH3 and cysteine-rich domain-containing protein isoform X1

      UniProtKB/TrEMBL
      Q8WUK8
    2. XM_011534037.4XP_011532339.1  SH3 and cysteine-rich domain-containing protein isoform X2

      UniProtKB/TrEMBL
      Q8WUK8
      Conserved Domains (4) summary
      cd11833
      Location:278330
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd11834
      Location:337387
      SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
      cd00029
      Location:97148
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam16664
      Location:155261
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
    3. XM_047448768.1XP_047304724.1  SH3 and cysteine-rich domain-containing protein isoform X3

      UniProtKB/TrEMBL
      Q8WUK8
    4. XM_047448770.1XP_047304726.1  SH3 and cysteine-rich domain-containing protein isoform X5

      UniProtKB/TrEMBL
      B4DR96
    5. XM_047448769.1XP_047304725.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13, Q8WUK8
    6. XM_017007083.2XP_016862572.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13, Q8WUK8
      Conserved Domains (4) summary
      cd11833
      Location:221273
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd00029
      Location:4091
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam16664
      Location:98204
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
      cl17036
      Location:280330
      SH3; Src Homology 3 domain superfamily
    7. XM_047448771.1XP_047304727.1  SH3 and cysteine-rich domain-containing protein isoform X6

    RNA

    1. XR_940496.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      36381995..36549211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347630.1XP_054203605.1  SH3 and cysteine-rich domain-containing protein isoform X1

      UniProtKB/TrEMBL
      Q8WUK8
    2. XM_054347631.1XP_054203606.1  SH3 and cysteine-rich domain-containing protein isoform X2

      UniProtKB/TrEMBL
      Q8WUK8
    3. XM_054347632.1XP_054203607.1  SH3 and cysteine-rich domain-containing protein isoform X3

      UniProtKB/TrEMBL
      Q8WUK8
    4. XM_054347635.1XP_054203610.1  SH3 and cysteine-rich domain-containing protein isoform X5

      UniProtKB/TrEMBL
      B4DR96
    5. XM_054347633.1XP_054203608.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13, Q8WUK8
    6. XM_054347634.1XP_054203609.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13, Q8WUK8
    7. XM_054347636.1XP_054203611.1  SH3 and cysteine-rich domain-containing protein isoform X6

    RNA

    1. XR_008486779.1 RNA Sequence