SNAPC4 - small nuclear RNA activating complex polypeptide 4 Gene

Homo sapiens

Also known as SNAP190; PTFalpha

Gene ID: 6621 | Gene type: protein coding

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

SNAPC4 Protein Structure

Myb_DNA-bind_6

0
300
600
900
1200
1469 a.a.

Protein Preferred Names

Protein Names

snRNA-activating protein complex subunit 4

PSE-binding factor subunit alpha

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13479	SNAPC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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