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

    Gene ID: 246329, updated on 23-Nov-2023

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAC3 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57243458..57251187, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57211695..57219414, complement)
    105.20220307 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

    Related articles in PubMed

    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 
    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)

    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.

    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_2023_10

    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