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

Gene ID: 6617, updated on 5-Mar-2024

Summary

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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, Apr 2022]
Expression
Broad expression in testis (RPKM 12.5), adrenal (RPKM 5.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
14q23.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (61762420..61796428)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55969297..56003328)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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. 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
  4. 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
  5. The retinoblastoma tumor suppressor protein targets distinct general transcription factors to regulate RNA polymerase III gene expression. Hirsch HA, et al. Mol Cell Biol, 2000 Dec. PMID 11094070, Free PMC Article

See all (25) 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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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.

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_2023_10

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

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