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FLASH GENE

Symbol

LIPT1

contributors: mct - updated : 20-09-2017

HGNC name	lipoyltransferase 1
HGNC id	29569

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LIPT1D lipoyltransferase 1 deficiency
Location	2q11.2      Physical location : 99.771.417 - 99.779.611
Synonym symbol(s)	MGC12290, MGC13378, LIPT1D

DNA

TYPE	functioning gene
STRUCTURE	8.20 kb     3 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_145197 4 - 1584 NP_660198 - 373 - 1999 10103005 NM_145198 4 - 1572 NP_660199 - 373 - 1999 10103005 NM_015929 3 - 1456 NP_057013 - 373 - 1999 10103005 NM_145199 2 - 1330 NP_660200 - 373 - 1999 10103005 NM_001204830 3 - 1627 NP_001191759 - 373 - 1999 10103005

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	transferring the lipoyl group from lipoyl-AMP to the lysine residue of the lipoate-dependent enzymes
	is responsible for the transfer of lipoyl moiety from lipoyl GCS H protein to the BCKDH, PDP1, and OGDH E2 subunits

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

lipid,fatty-acid and sterol metabolism

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LIPT1D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS