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

    Gene ID: 6769, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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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    Related articles in PubMed

    1. Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611. Petek E, et al. Cytogenet Cell Genet, 1999. PMID 10393425
    2. Stac, a novel neuron-specific protein with cysteine-rich and SH3 domains. Suzuki H, et al. Biochem Biophys Res Commun, 1996 Dec 24. PMID 8954993
    3. Genome-wide association studies of placebo and duloxetine response in major depressive disorder. Maciukiewicz M, et al. Pharmacogenomics J, 2018 May 22. PMID 28696415
    4. Identification of candidate substrates for poly(ADP-ribose) polymerase-2 (PARP2) in the absence of DNA damage using high-density protein microarrays. Troiani S, et al. FEBS J, 2011 Oct. PMID 21812934
    5. A Ca(v)3.2/Stac1 molecular complex controls T-type channel expression at the plasma membrane. Rzhepetskyy Y, et al. Channels (Austin), 2016 Sep 2. PMID 27149520, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    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_001292049.2 → NP_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:228 → 280
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd11834
      Location:287 → 337
      SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
      pfam16664
      Location:130 → 176
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
      cl00040
      Location:108 → 128
      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_003149.3 → NP_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:289 → 341
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd11834
      Location:348 → 398
      SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
      cd00029
      Location:108 → 159
      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:166 → 237
      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_047448767.1 → XP_047304723.1  SH3 and cysteine-rich domain-containing protein isoform X1

    2. XM_011534037.4 → XP_011532339.1  SH3 and cysteine-rich domain-containing protein isoform X2

      UniProtKB/TrEMBL
      Q8WUK8
      Conserved Domains (4) summary
      cd11833
      Location:278 → 330
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd11834
      Location:337 → 387
      SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
      cd00029
      Location:97 → 148
      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:155 → 261
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2

    3. XM_047448768.1 → XP_047304724.1  SH3 and cysteine-rich domain-containing protein isoform X3

    4. XM_047448770.1 → XP_047304726.1  SH3 and cysteine-rich domain-containing protein isoform X5

    5. XM_047448769.1 → XP_047304725.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13

    6. XM_017007083.2 → XP_016862572.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13, Q8WUK8
      Conserved Domains (4) summary
      cd11833
      Location:221 → 273
      SH3_Stac_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing (Stac) proteins
      cd00029
      Location:40 → 91
      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:98 → 204
      STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
      cl17036
      Location:280 → 330
      SH3; Src Homology 3 domain superfamily

    7. XM_047448771.1 → XP_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_054347630.1 → XP_054203605.1  SH3 and cysteine-rich domain-containing protein isoform X1

    2. XM_054347631.1 → XP_054203606.1  SH3 and cysteine-rich domain-containing protein isoform X2

    3. XM_054347632.1 → XP_054203607.1  SH3 and cysteine-rich domain-containing protein isoform X3

    4. XM_054347635.1 → XP_054203610.1  SH3 and cysteine-rich domain-containing protein isoform X5

    5. XM_054347633.1 → XP_054203608.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13

    6. XM_054347634.1 → XP_054203609.1  SH3 and cysteine-rich domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DZ13

    7. XM_054347636.1 → XP_054203611.1  SH3 and cysteine-rich domain-containing protein isoform X6

    RNA

    1. XR_008486779.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99469.1 GenPept UniProtKB/Swiss-Prot:Q99469

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