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

Gene ID: 6621, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See SNAPC4 in Genome Data Viewer
Location:
9q34.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136375571..136400170, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139270021..139292889, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene G protein signaling modulator 1 Neighboring gene DNL-type zinc finger Neighboring gene caspase recruitment domain family member 9 Neighboring gene Sharpr-MPRA regulatory region 3996 Neighboring gene endosome associated trafficking regulator 1 Neighboring gene peptidase, mitochondrial processing subunit alpha

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13451

General protein information

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

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.

Genomic

  1. NG_051233.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001394201.1NP_001381130.1  snRNA-activating protein complex subunit 4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AL592301
    Conserved Domains (5) summary
    smart00717
    Location:401448
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    PLN03091
    Location:399502
    PLN03091; hypothetical protein; Provisional
    PHA03247
    Location:8171215
    PHA03247; large tegument protein UL36; Provisional
    pfam13921
    Location:297357
    Myb_DNA-bind_6; Myb-like DNA-binding domain
    cl21498
    Location:262305
    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 ...
  2. NM_001394202.1NP_001381131.1  snRNA-activating protein complex subunit 4 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL592301
    Conserved Domains (5) summary
    smart00717
    Location:401448
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    PLN03091
    Location:399502
    PLN03091; hypothetical protein; Provisional
    PHA03247
    Location:7891187
    PHA03247; large tegument protein UL36; Provisional
    pfam13921
    Location:297357
    Myb_DNA-bind_6; Myb-like DNA-binding domain
    cl21498
    Location:262305
    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 ...
  3. NM_001394203.1NP_001381132.1  snRNA-activating protein complex subunit 4 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL592301
    Conserved Domains (5) summary
    smart00717
    Location:401448
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    PLN03091
    Location:399502
    PLN03091; hypothetical protein; Provisional
    PHA03247
    Location:7891187
    PHA03247; large tegument protein UL36; Provisional
    pfam13921
    Location:297357
    Myb_DNA-bind_6; Myb-like DNA-binding domain
    cl21498
    Location:262305
    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 ...
  4. NM_003086.4NP_003077.2  snRNA-activating protein complex subunit 4 isoform a

    See identical proteins and their annotated locations for NP_003077.2

    Status: REVIEWED

    Source sequence(s)
    AL592301
    Consensus CDS
    CCDS6998.1
    UniProtKB/Swiss-Prot
    Q5SXM2
    UniProtKB/TrEMBL
    A0A024R8F4
    Related
    ENSP00000298532.2, ENST00000298532.2
    Conserved Domains (5) summary
    smart00717
    Location:401448
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    PLN03091
    Location:399502
    PLN03091; hypothetical protein; Provisional
    PHA03247
    Location:8171215
    PHA03247; large tegument protein UL36; Provisional
    pfam13921
    Location:297357
    Myb_DNA-bind_6; Myb-like DNA-binding domain
    cl21498
    Location:262305
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    136375571..136400170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015058.2XP_016870547.1  snRNA-activating protein complex subunit 4 isoform X2

    Conserved Domains (5) summary
    smart00717
    Location:401448
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    PLN03091
    Location:399502
    PLN03091; hypothetical protein; Provisional
    PHA03247
    Location:7891187
    PHA03247; large tegument protein UL36; Provisional
    pfam13921
    Location:297357
    Myb_DNA-bind_6; Myb-like DNA-binding domain
    cl21498
    Location:262305
    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 ...
  2. 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 (5) summary
    smart00717
    Location:401448
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    PLN03091
    Location:399502
    PLN03091; hypothetical protein; Provisional
    PHA03247
    Location:8171215
    PHA03247; large tegument protein UL36; Provisional
    pfam13921
    Location:297357
    Myb_DNA-bind_6; Myb-like DNA-binding domain
    cl21498
    Location:262305
    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 ...
  3. 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

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