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

Summary

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, Dec 2024]
Expression: Broad expression in testis (RPKM 12.5), adrenal (RPKM 5.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SNAPC1 is a general transcriptional coactivator that functions through elongating RNAPII.
Title: Requirement for SNAPC1 in transcriptional responsiveness to diverse extracellular signals.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U44754 (e-PCR)
- UniSTS:281

D8S2278 (e-PCR)
- UniSTS:473906

sY3084 (e-PCR)
- UniSTS:515126

RH93275 (e-PCR)
- UniSTS:85088

GDB:198173 (e-PCR)
- UniSTS:156026

D14S1334 (e-PCR)
- UniSTS:77695

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)

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