Format

Send to:

Choose Destination
    • Showing Current items.

    SNAPC4 small nuclear RNA activating complex polypeptide 4 [ Homo sapiens (human) ]

    Gene ID: 6621, updated on 8-Apr-2018
    Official Symbol
    SNAPC4provided by HGNC
    Official Full Name
    small nuclear RNA activating complex polypeptide 4provided by HGNC
    Primary source
    HGNC:HGNC:11137
    See related
    Ensembl:ENSG00000165684 MIM:602777; Vega:OTTHUMG00000020929
    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
    SNAP190; PTFalpha
    Summary
    This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in testis (RPKM 5.9), spleen (RPKM 2.6) and 25 other tissues See more
    Orthologs
    Location:
    9q34.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (136375569..136400220, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139270021..139294655, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DNL-type zinc finger Neighboring gene caspase recruitment domain family member 9 Neighboring gene serologically defined colon cancer antigen 3 Neighboring gene peptidase, mitochondrial processing alpha subunit Neighboring gene inositol polyphosphate-5-phosphatase E

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ13451

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    snRNA transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    snRNA transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    snRNA transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
     
    snRNA transcription by RNA polymerase III IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription by RNA polymerase III TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    snRNA-activating protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    snRNA-activating protein complex subunit 4
    Names
    PSE-binding factor subunit alpha
    PTF subunit alpha
    SNAPc 190 kDa subunit
    SNAPc subunit 4
    proximal sequence element-binding transcription factor subunit alpha
    snRNA-activating protein complex 190 kDa subunit

    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_051233.1 RefSeqGene

      Range
      6784..29652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003086.3NP_003077.2  snRNA-activating protein complex subunit 4

      See identical proteins and their annotated locations for NP_003077.2

      Status: REVIEWED

      Source sequence(s)
      AF032387, AL592301, BF339801, CT003125
      Consensus CDS
      CCDS6998.1
      UniProtKB/Swiss-Prot
      Q5SXM2
      UniProtKB/TrEMBL
      A0A024R8F4
      Related
      ENSP00000298532.2, OTTHUMP00000022583, ENST00000298532.2, OTTHUMT00000055071
      Conserved Domains (6) summary
      smart00717
      Location:401448
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:470496
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00249
      Location:401447
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam13921
      Location:297357
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      pfam15547
      Location:10311132
      DUF4654; Domain of unknown function (DUF4654)
      cl09111
      Location:200252
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      136375569..136400220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266096.3XP_005266153.1  snRNA-activating protein complex subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_005266153.1

      UniProtKB/Swiss-Prot
      Q5SXM2
      UniProtKB/TrEMBL
      A0A024R8F4
      Conserved Domains (6) summary
      smart00717
      Location:401448
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:470496
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00249
      Location:401447
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam13921
      Location:297357
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      pfam15547
      Location:10311132
      DUF4654; Domain of unknown function (DUF4654)
      cl09111
      Location:200252
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    2. XM_006717241.3XP_006717304.1  snRNA-activating protein complex subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_006717304.1

      UniProtKB/Swiss-Prot
      Q5SXM2
      UniProtKB/TrEMBL
      A0A024R8F4
      Conserved Domains (6) summary
      smart00717
      Location:401448
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:470496
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00249
      Location:401447
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam13921
      Location:297357
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      pfam15547
      Location:10311132
      DUF4654; Domain of unknown function (DUF4654)
      cl09111
      Location:200252
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. XM_017015058.2XP_016870547.1  snRNA-activating protein complex subunit 4 isoform X2

      Conserved Domains (6) summary
      smart00717
      Location:401448
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:470496
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00249
      Location:401447
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam13921
      Location:297357
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      pfam15547
      Location:10031104
      DUF4654; Domain of unknown function (DUF4654)
      cl09111
      Location:205252
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    4. XM_006717242.4XP_006717305.1  snRNA-activating protein complex subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_006717305.1

      UniProtKB/Swiss-Prot
      Q5SXM2
      UniProtKB/TrEMBL
      A0A024R8F4
      Conserved Domains (6) summary
      smart00717
      Location:401448
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:470496
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00249
      Location:401447
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam13921
      Location:297357
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      pfam15547
      Location:10311132
      DUF4654; Domain of unknown function (DUF4654)
      cl09111
      Location:200252
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    5. XM_006717244.2XP_006717307.1  snRNA-activating protein complex subunit 4 isoform X3

      Conserved Domains (1) summary
      PHA03247
      Location:221619
      PHA03247; large tegument protein UL36; Provisional

    RNA

    1. XR_001746368.1 RNA Sequence

    2. XR_001746369.1 RNA Sequence

    Support Center