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FLASH GENE

Symbol

SNAPC4

contributors: mct/npt - updated : 10-05-2023

HGNC name	small nuclear RNA activating complex, polypeptide 4, 190kDa
HGNC id	11137

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDDPS neurodevelopmental disorder with progressive spasticity
Location	9q34.3      Physical location : 139.270.029 - 139.292.889
Synonym name	PSE-binding factor subunit alpha
	PTF subunit alpha
	proximal sequence element-binding transcription factor subunit alpha
Synonym symbol(s)	SNAP190, PTFALPHA, FLJ13451

DNA

TYPE	functioning gene
STRUCTURE	24.60 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003086 24 - 4665 NP_003077 159 1469 - 2003 12621023 NM_001394203 24 - 4609 NP_001381132 - 1441 - 2003 12621023 NM_001394202 24 - 4613 NP_001381131 - 1441 - 2003 12621023 NM_001394201 24 - 4697 NP_001381130 - 1469 - 2003 12621023

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus       highly Nervous nerve       highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five Myb-like binding domains
	an unusual Myb DNA binding domain consisting of four complete repeats (Ra to Rd) and a half repeat (Rh)
	SWI3, ADA2, N-COR and TF3B DNA binding domains
	arginine and serine rich regions
	a C terminal leucine zipper-like motif, and C-terminal half of SNAPC4 can interact with DNA-bound transcription activator POU2F1

mono polymer

complex

HOMOLOGY

interspecies

homolog to C.elegans gei-11

Homologene

FAMILY

SNAPC gene family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	required for both RNA polymerase II and III transcription of snRNA (Small nuclear RNA)
	initiating basal levels of transcription
	involved in direct recognition of the proximal sequence elements and is a target for the POU2F1 activator
	forms the backbone of the complex and binds three of the four remaining subunits through two main regions as follows : a region within the N-terminal third binds SNAPC5 and SNAPC1, whereas a region close to the C terminus of the protein binds SNAPC2 (SNAPC3 joins the complex through contacts with SNAPC1)
	SNAPC4 occupancy peaked prior to the transcription start site, where it could contribute to the recruitment of the general transcription machinery

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

text	snRNA transcription

PATHWAY

metabolism

signaling

a component

largest subunit of the snRNA-activating protein complex (SNAPc)

INTERACTION

DNA

binding

RNA

small molecule

protein

binding to DNA-bound transcription activator POU2F1 and SNAPC2, but not with SNAPC1 or SNAPC3

cell & other

REGULATION

Other

phosphorylation of the N-terminal half at two regions (amino acids 20-63 and 514-545) that each contain multiple CK2 consensus sites (inhibits both SNAP(C) DNA binding and U6 transcription activity)

ASSOCIATED DISORDERS

corresponding disease(s)

NDDPS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function leads to an accumulation of cells with a G0/G1 DNA content

Susceptibility

to ankylosing spondylitis (AS)

Variant & Polymorphism SNP	SNP rs11145835 in 9q34.3 that harbors CARD9 and SNAPC4 is associated with AS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS