U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    SNAPC1 small nuclear RNA activating complex polypeptide 1 [ Homo sapiens (human) ]

    Gene ID: 6617, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    SNAPC1provided by HGNC
    Official Full Name
    small nuclear RNA activating complex polypeptide 1provided by HGNC
    Primary source
    HGNC:HGNC:11134
    See related
    Ensembl:ENSG00000023608 MIM:600591; AllianceGenome:HGNC:11134
    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
    SNAP43; PTFgamma
    Summary
    Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 12.5), adrenal (RPKM 5.0) and 24 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See SNAPC1 in Genome Data Viewer
    Location:
    14q23.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (61762420..61796428)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55969297..56003328)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (62229138..62263146)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5824 Neighboring gene HIF1A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8501 Neighboring gene HIF1A antisense RNA 3 Neighboring gene hypoxia inducible factor 1 subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5825 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:62221703-62222902 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:62223301-62223886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62227132-62227876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62227877-62228620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62228621-62229364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62229365-62230108 Neighboring gene HIF1A antisense RNA 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62298837-62299336 Neighboring gene synaptotagmin 16 Neighboring gene cytochrome c oxidase subunit 4I1 pseudogene 1 Neighboring gene molybdenum cofactor synthesis 3 pseudogene 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. The human PTFgamma/SNAP43 gene: structure, chromosomal location, and identification of a VNTR in 5'-UTR. Maeng JH, et al. J Biochem, 1998 Jul. PMID 9644240
    2. Requirement for SNAPC1 in transcriptional responsiveness to diverse extracellular signals. Baillat D, et al. Mol Cell Biol, 2012 Nov. PMID 22966203, Free PMC Article
    3. Structural basis of human SNAPc recognizing proximal sequence element of snRNA promoter. Sun J, et al. Nat Commun, 2022 Nov 11. PMID 36369505, Free PMC Article
    4. Cooperation between small nuclear RNA-activating protein complex (SNAPC) and TATA-box-binding protein antagonizes protein kinase CK2 inhibition of DNA binding by SNAPC. Gu L, et al. J Biol Chem, 2005 Jul 29. PMID 15955816
    5. Cloning and characterization of SNAP50, a subunit of the snRNA-activating protein complex SNAPc. Henry RW, et al. EMBO J, 1996 Dec 16. PMID 9003788, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results from a study on gene expression variability markers in early-stage human embryos shows that is a putative expression variability marker as well as a differential gene expression marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    2. SNAPC1 is a general transcriptional coactivator that functions through elongating RNAPII.
      Title: Requirement for SNAPC1 in transcriptional responsiveness to diverse extracellular signals.
    3. CK2 may have the capacity to differentially regulate U1 and U6 transcription even though SNAP(C) is universally utilized for human snRNA gene transcription [SNAPC protein, also called PTF or PSE-binding transcription factor]
      Title: Cooperation between small nuclear RNA-activating protein complex (SNAPC) and TATA-box-binding protein antagonizes protein kinase CK2 inhibition of DNA binding by SNAPC.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Potential readthrough

    Included gene: HIF1A

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II general transcription initiation factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables RNA polymerase III general transcription initiation factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in snRNA transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in snRNA transcription by RNA polymerase III IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of snRNA-activating protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    snRNA-activating protein complex subunit 1
    Names
    PSE-binding factor subunit gamma
    PTF subunit gamma
    SNAPc 43 kDa subunit
    SNAPc subunit 1
    proximal sequence element-binding transcription factor subunit gamma
    small nuclear RNA activating complex, polypeptide 1, 43kD
    small nuclear RNA activating complex, polypeptide 1, 43kDa
    snRNA-activating protein complex 43 kDa subunit

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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.

    mRNA and Protein(s)

    1. NM_003082.4 → NP_003073.1  snRNA-activating protein complex subunit 1

      See identical proteins and their annotated locations for NP_003073.1

      Status: VALIDATED

      Source sequence(s)
      AK314933, BC014984
      Consensus CDS
      CCDS9755.1
      UniProtKB/Swiss-Prot
      Q16533
      UniProtKB/TrEMBL
      B2RC42
      Related
      ENSP00000216294.4, ENST00000216294.5
      Conserved Domains (1) summary
      pfam09808
      Location:7 → 191
      SNAPc_SNAP43; Small nuclear RNA activating complex (SNAPc), subunit SNAP43

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      61762420..61796428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      55969297..56003328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16533.1 GenPept UniProtKB/Swiss-Prot:Q16533

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous