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

Gene ID: 6769, updated on 3-Apr-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 T-tubule. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 5.7), lung (RPKM 4.4) and 11 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36380504..36548007)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36381995..36549211)
105.20220307 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
  • 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. Genome-wide association studies of placebo and duloxetine response in major depressive disorder. Maciukiewicz M, et al. Pharmacogenomics J, 2018 May 22. PMID 28696415
  3. 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
  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 IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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