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FLASH GENE

Symbol

NDUFAF1

contributors: mct - updated : 21-12-2013

HGNC name	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
HGNC id	18828

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CIA30D CIA30 deficiency
Location	15q15.1      Physical location : 41.679.552 - 41.694.642
Synonym name	complex I intermediate associated protein 30
Synonym symbol(s)	CGI65, CIA30, CGI-65

DNA

TYPE	functioning gene
STRUCTURE	15.11 kb     5 Exon(s)    2 Copie(s)

text structure

a putative CIA30 pseudogene on 19p12 showing 90% identity to NDUFAF1

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_016013 5 - 1488 NP_057097 - 327 - 2005 16218961

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 Digestive intestine small intestine     moderately Nervous nerve cranial nerve     highly Reproductive female system uterus cervix   highly   male system prostate     highly Urinary kidney       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal mitochondrial targeting sequence
	two possible cAMP- and cGMP-dependent protein kinase phosphorylation sites

HOMOLOGY

interspecies	ortholog to murine Ndufaf1
	homolog to Neurospora crassa CIA30

Homologene

FAMILY

CIA30 family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic

basic FUNCTION	involved in the assembly of the mitochondrial NADH : ubiquinone oxidoreductase complex (complex I)
	involved in the complex I assembly process (important protein for the assembly/stability of complex I)
	crucial component in the early assembly of complex I

CELLULAR PROCESS

protein, post translation, folding

PHYSIOLOGICAL PROCESS

mitochondrial transport , electron transport

text	mitochondrial electron transport

PATHWAY

metabolism

signaling

a component	respiratory chain complex I
	TMEM126B forms a complex with other assembly factors: NDUFAF1, ACAD9, and ECSIT

INTERACTION

DNA

RNA

small molecule

protein	unfolded protein binding
	interacting with ECSIT (Vogel 2007)
	TIMMDC1 reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CIA30D

Susceptibility

Variant & Polymorphism

Candidate gene	for complex I deficiency
Marker
Therapy target

ANIMAL & CELL MODELS