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FLASH GENE

Symbol

NDUFA1

contributors: mct - updated : 04-07-2009

HGNC name	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
HGNC id	7683

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDUFA1D NDUFA1 deficiency
Location	Xq24      Physical location : 119.005.733 - 119.010.628
Synonym symbol(s)	MWFE, CI-MWFE, ZNF183
EC.number	1.6.5.3

DNA

TYPE	like-sequence
STRUCTURE	4.90 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 502 isoform 1 - 70 - Vogel (2007)

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 Cardiovascular heart       highly Endocrine parathyroid       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an hydrophobic N terminus
	an hydrophilic C terminal domain

HOMOLOGY

interspecies

homolog to bovine MWFE (subunit of complex I essential for an active complex I)

Homologene

FAMILY

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
text	inner membrane, matrix side

basic FUNCTION	NADH ubiquinone oxidoreductase (Q reductase)involved in the transport of electrons from NADH to ubiquinone
	may also be phosphorylated and thus involved in complex I regulation (Potluri 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

energetic

signaling

a component

component alpha 1, hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)

INTERACTION

DNA

RNA

small molecule

protein

interact with various mtDNA encoded complex I subunits (Potluri 2009)

cell & other

REGULATION

activated by

thyroid hormones

ASSOCIATED DISORDERS

corresponding disease(s)

NDUFA1D

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS