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STAC3 SH3 and cysteine rich domain 3 [ Homo sapiens (human) ]

Gene ID: 246329, updated on 28-Jun-2020

Summary

Official Symbol
STAC3provided by HGNC
Official Full Name
SH3 and cysteine rich domain 3provided by HGNC
Primary source
HGNC:HGNC:28423
See related
Ensembl:ENSG00000185482 MIM:615521
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAM; MYPBB
Summary
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Expression
Biased expression in prostate (RPKM 23.6), esophagus (RPKM 13.8) and 8 other tissues See more
Orthologs

Genomic context

See STAC3 in Genome Data Viewer
Location:
12q13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57243453..57251188, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57637241..57644971, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 225 Neighboring gene NDUFA4 mitochondrial complex associated like 2 Neighboring gene serine hydroxymethyltransferase 2 Neighboring gene R3H domain containing 2 Neighboring gene RNA, U6 small nuclear 879, pseudogene Neighboring gene inhibin subunit beta C

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

Associated conditions

Description Tests
Bailey-Bloch congenital myopathy
MedGen: C1850625 OMIM: 255995 GeneReviews: STAC3 Disorder
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
T-tubule IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
extrinsic component of cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033835.1 RefSeqGene

    Range
    5007..12736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286256.2NP_001273185.1  SH3 and cysteine-rich domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001273185.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.
    Source sequence(s)
    BC008069, DA896836
    Consensus CDS
    CCDS66406.1
    UniProtKB/Swiss-Prot
    Q96MF2
    Related
    ENSP00000452068.1, ENST00000554578.5
    Conserved Domains (4) summary
    cd11834
    Location:271321
    SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
    cd11986
    Location:212264
    SH3_Stac3_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 3 (Stac3)
    pfam00130
    Location:5196
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam16664
    Location:108200
    STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
  2. NM_001286257.2NP_001273186.1  SH3 and cysteine-rich domain-containing protein 3 isoform c

    See identical proteins and their annotated locations for NP_001273186.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a.
    Source sequence(s)
    AK300688, BC008069, DA896836
    Consensus CDS
    CCDS66405.1
    UniProtKB/Swiss-Prot
    Q96MF2
    Related
    ENSP00000441515.2, ENST00000546246.2
    Conserved Domains (2) summary
    cd11834
    Location:124174
    SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
    cl17036
    Location:65117
    SH3; Src Homology 3 domain superfamily
  3. NM_145064.3NP_659501.1  SH3 and cysteine-rich domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_659501.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK057013, BU738507, DA896836
    Consensus CDS
    CCDS8936.1
    UniProtKB/Swiss-Prot
    Q96MF2
    UniProtKB/TrEMBL
    A0A024RB38
    Related
    ENSP00000329200.2, ENST00000332782.7
    Conserved Domains (4) summary
    cd11834
    Location:310360
    SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
    cd11986
    Location:251303
    SH3_Stac3_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 3 (Stac3)
    pfam00130
    Location:90135
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam16664
    Location:147239
    STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2

RNA

  1. NR_104422.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks four alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK057013, AK311513, BC008069, DA896836
    Related
    ENST00000557176.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57243453..57251188 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538126.2XP_011536428.1  SH3 and cysteine-rich domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011536428.1

    UniProtKB/Swiss-Prot
    Q96MF2
    UniProtKB/TrEMBL
    A0A024RB38
    Conserved Domains (4) summary
    cd11834
    Location:310360
    SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3
    cd11986
    Location:251303
    SH3_Stac3_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 3 (Stac3)
    pfam00130
    Location:90135
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam16664
    Location:147239
    STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2

RNA

  1. XR_944515.2 RNA Sequence

  2. XR_002957305.1 RNA Sequence

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