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FLASH GENE

Symbol

GEMIN8

contributors: mct - updated : 11-02-2017

HGNC name	gem (nuclear organelle) associated protein 8
HGNC id	26044

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xp22.2      Physical location : 14.024.845 - 14.048.035
Synonym name	protein FAM51A1
	family with sequence similarity 51, member A1
	Gem-associated protein 8
	expressed sequence 59, on chromosome X
Synonym symbol(s)	FLJ20514, FLJ43072, FAM51A1, DXS1112E, XE59

DNA

TYPE	functioning gene
STRUCTURE	23.21 kb     5 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_001042479 5 - 3171 NP_001035944 28 242 - 2006 17023415 NM_001042480 4 - 3089 NP_001035945 28 242 - 2006 17023415 NM_017856 5 - 3259 NP_060326 28 242 - 2006 17023415

EXPRESSION

Type

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 Cardiovascular heart         Digestive salivary gland       predominantly Endocrine parathyroid

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

physiological period

embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , complex

HOMOLOGY

interspecies

homolog to rattus FAM51A1 (69.9pc)

Homologene

FAMILY

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs)
	GEMIN4 and GEMIN8 orthologues are required for neuromuscular function and survival

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forming an heteromeric subunit of the SMN complex in association with Gemin6-Gemin7 heterodimer
	integral component of the SMN complex and extend the repertoire of cellular proteins involved in the pathway of snRNP biogenesis

INTERACTION

DNA

RNA

small molecule

protein

SMN complex and its component GEMIN8 interact directly with protein phosphatase PPP1CC

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular spinal muscular atrophy   GEMIN8 interaction with PPP1CC is a target for therapeutic intervention in SMA

ANIMAL & CELL MODELS