SNAPC4 - small nuclear RNA activating complex polypeptide 4 Gene

Also Known as SNAP190; PTFalpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6621

About SNAPC4

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,375,571-136,400,170 (from NCBI)

This gene has 7 transcripts (splice variants), 184 orthologues and 6 paralogues. Broad expression in testis (RPKM 5.9), spleen (RPKM 2.6) and 25 other tissues.

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]

SNAPC4 Products (4)

mRNA Protein Name
NM_001394201.1 NP_001381130.1 snRNA-activating protein complex subunit 4 isoform a
NM_001394202.1 NP_001381131.1 snRNA-activating protein complex subunit 4 isoform b
NM_001394203.1 NP_001381132.1 snRNA-activating protein complex subunit 4 isoform b
NM_003086.4 NP_003077.2 snRNA-activating protein complex subunit 4 isoform a
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
9418884 GOA
enables RNA polymerase II general transcription initiation factor activity IDA
IDA: Inferred from direct assay
9418884 GOA
enables RNA polymerase III general transcription initiation factor activity IDA
IDA: Inferred from direct assay
9418884 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11056176 GOA
Biological Process GO Annotation Evidence References Source
involved in snRNA transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9418884 GOA
involved in snRNA transcription by RNA polymerase III IDA
IDA: Inferred from direct assay
9418884 GOA
Cellular Component GO Annotation Evidence References Source
part of snRNA-activating protein complex IDA
IDA: Inferred from direct assay
9418884 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNAPC4 Protein Structure

Myb_DNA-bind_6

Myb_DNA-bind_6: Myb-like DNA-binding domain (297 - 357)

Myb_DNA-bind_6

Myb_DNA-bind_6: Myb-like DNA-binding domain (404 - 464)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1469 a.a.
Protein Preferred Names Protein Names

snRNA-activating protein complex subunit 4

  • PSE-binding factor subunit alpha

SNAPC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SNAPC4 Q5SXM2 SNAPC1 Homo sapiens Q16533 36369505
Intra
SNAPC4 Q5SXM2 SNAPC1 Homo sapiens Q16533 11056176
Intra
SNAPC4 Q5SXM2 SNAPC5 Homo sapiens O75971 33961781
Intra
SNAPC4 Q5SXM2 SNAPC5 Homo sapiens O75971 11056176
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spondylitis
Deafness, Autosomal Recessive 99
  • DFNB99

  • Autosomal Recessive Nonsyndromic Deafness 99

  • Autosomal Recessive Deafness 99

  • Deafness, Autosomal Recessive, 99

Armfield Syndrome
  • X-Linked Intellectual Disability, Armfield Type

  • Armfield X-Linked Mental Retardation Syndrome

  • Mental Retardation Syndrome, X-Linked, Armfield Type

  • Mrxsa

  • Syndromic X-Linked Mental Retardation Armfield Type

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SNAPC4 RGD RGD:1309048
Bos taurus SNAPC4 VGNC VGNC:58415
Mus musculus SNAPC4 MGD MGI:2443935
Felis catus SNAPC4 VGNC VGNC:65522
Macaca mulatta SNAPC4 VGNC VGNC:77667
Canis familiaris SNAPC4 VGNC VGNC:46593