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

Gene ID: 246329, updated on 27-Nov-2024

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; AllianceGenome:HGNC:28423
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; CMYO13; CMYP13
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
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Genomic context

See STAC3 in Genome Data Viewer
Location:
12q13.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57243458..57251187, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57211695..57219414, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57637241..57644970, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57609975-57610474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57610622-57611230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57611231-57611837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57617093-57617999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57624967-57625547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57625548-57626129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57626711-57627291 Neighboring gene Sharpr-MPRA regulatory region 225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6532 Neighboring gene neurexophilin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57631624-57632226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57633295-57634200 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr12:57636011-57636914 Neighboring gene NDUFA4 mitochondrial complex associated like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6534 Neighboring gene serine hydroxymethyltransferase 2 Neighboring gene Sharpr-MPRA regulatory region 5413 Neighboring gene R3H domain containing 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57673563-57674762 Neighboring gene Sharpr-MPRA regulatory region 11351 Neighboring gene Sharpr-MPRA regulatory region 7317 Neighboring gene MPRA-validated peak1746 silencer Neighboring gene RNA, U6 small nuclear 879, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4580 Neighboring gene R3HDM2 divergent transcript

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC2793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in neuromuscular synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal muscle fiber development IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
part_of 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)

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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.

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
    B4DUK9, Q96HU5, Q96MF2
    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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57243458..57251187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538126.3XP_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
    B4DUK9, Q96HU5, Q96MF2
    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
  2. XM_047428657.1XP_047284613.1  SH3 and cysteine-rich domain-containing protein 3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57211695..57219414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371649.1XP_054227624.1  SH3 and cysteine-rich domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B4DUK9, Q96HU5, Q96MF2
  2. XM_054371650.1XP_054227625.1  SH3 and cysteine-rich domain-containing protein 3 isoform X2