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FLASH GENE

Symbol

ASCC1

contributors: mct - updated : 16-03-2016

HGNC name	activating signal cointegrator 1 complex subunit 1
HGNC id	24268

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMCSMA3 arthrogryposis multiplex congenita-spinal muscular atrophy3
Location	10q22.1      Physical location : 73.856.277 - 73.975.694
Synonym symbol(s)	CGI-18, ASC1p50, SC1p50, p50

DNA

TYPE	functioning gene
STRUCTURE	121.10 kb     16 Exon(s)

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_001198799 13 splicing 2925 NP_001185728 45 400 - 2002 12077347 NM_001198800 10 splicing 2644 NP_001185729 41 357 - 2002 12077347 NM_001198798 10 - 2683 NP_001185727 41 357 - 2002 12077347

EXPRESSION

Type	ubiquitous

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 Endocrine thyroid         Mus musculus Lymphoid/Immune thymus       predominantly Nervous brain forebrain cerebral cortex     Mus musculus   ganglia autonomic ganglia sympathetic     Mus musculus   ganglia sensory ganglia dorsal root     Mus musculus   spinal cord         Mus musculus Reproductive male system testis     highly Respiratory respiratory tract larynx     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

RNA-binding KH domain fused to a 2H RNA-phosphoesterase

HOMOLOGY

interspecies

ortholog to murine Ascc1

Homologene

FAMILY

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm

basic FUNCTION	enhancing NF-kappa-B, SRF and AP1 transactivation
	TRIP4 and ASCC1 are indispensable for motor system development

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of TRIP4 complex containing ASCC1, ASCC2 and ASCC3, the activating signal cointegrator 1 (ASC-1) complex

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCSMA3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS