FITM2
entrez
128486
canonical
uniprot
Q8N6M3
canonical
ensembl
ENSG00000197296
resolver
ensp
ENSP00000380037
resolver
enst
ENST00000396825
resolver
genesymbol
FITM2
resolver
genesymbol_syn
C20orf142
resolver
genesymbol_syn
FIT2
resolver
hgnc
HGNC:16135
resolver
uniprot
A1L492
resolver
uniprot
B9EGQ4
resolver
uniprot
Q5TE59
resolver
uniprot
Q9H3Y1
resolver
uniprot_entry
FITM2_HUMAN
resolver
uniprot_sec
A1L492
resolver
uniprot_sec
B9EGQ4
resolver
uniprot_sec
Q5TE59
resolver
uniprot_sec
Q9H3Y1
resolver
amino_acid_sequence
MEHLERCEWLLRGTLVRAAVRRYLPWALVASMLAGSLLKELSPLPESYLSNKRNVLNVYFVKVAWAWTFCLLLPFIALTNYHLTGKAGLVLRRLSTLLVGTAIWYICTSIFSNIEHYTGSCYQSPALEGVRKEHQSKQQCHQEGGFWHGFDISGHSFLLTFCALMIVEEMSVLHEVKTDRSHCLHTAITTLVVALGILTFIWVLMFLCTAVYFHNLSQKVFGTLFGLLSWYGTYGFWYPKAFSPGLPPQSCSLNLKQDSYKK
uniprot
proteins
disease_involvement
DISEASE: Siddiqi syndrome (SIDDIS) [MIM:618635]: An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. {ECO:0000269|PubMed:28067622, ECO:0000269|PubMed:30214770, ECO:0000269|PubMed:30288795}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.-
uniprot
proteins
function
FUNCTION: Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (By similarity) (PubMed:32915949). Preferentially hydrolyzes unsaturated long-chain acyl-CoA substrates such as oleoyl-CoA/(9Z)-octadecenoyl-CoA and arachidonoyl-CoA/(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA in the endoplasmic reticulum (ER) lumen (By similarity) (PubMed:32915949). This catalytic activity is required for maintaining ER structure and for lipid droplets (LDs) biogenesis, which are lipid storage organelles involved in maintaining lipid and energy homeostasis (By similarity) (PubMed:18160536, PubMed:32915949). Directly binds to diacylglycerol (DAGs) and triacylglycerol, which is also important for LD biogenesis (By similarity). May support directional budding of nacent LDs from the ER into the cytosol by reducing DAG levels at sites of LD formation (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). {ECO:0000255|HAMAP-Rule:MF_03230, ECO:0000269|PubMed:18160536, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:32915949}.
uniprot
proteins
mass_dalton
29855
uniprot
proteins
mutagenesis
MUTAGEN 155; /note="H->A: Loss of oleoyl-CoA diphosphatase activity; when associated with A-214. Impaired ER morphology. No difference in the appearance of the Golgi apparatus, lysosomes or peroxisomes."; /evidence="ECO:0000269|PubMed:32915949"; MUTAGEN 214; /note="H->A: Loss of oleoyl-CoA diphosphatase activity; when associated with A-155. Impaired ER morphology, ER homeostasis and lipid droplet biogenesis. No difference in the appearance of the Golgi apparatus, lysosomes or peroxisomes."; /evidence="ECO:0000269|PubMed:32915949
uniprot
proteins
protein_family
FIT family
uniprot
proteins
protein_family
FIT2 subfamily
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18160536
uniprot
proteins
pubmed
21834987
uniprot
proteins
pubmed
28067622
uniprot
proteins
pubmed
30214770
uniprot
proteins
pubmed
30288795
uniprot
proteins
pubmed
32915949
uniprot
proteins
pubmed
39390519
uniprot
proteins
sequence_length
262
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03230, ECO:0000269|PubMed:18160536}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03230}.
uniprot
proteins
transmembrane_region
TRANSMEM 24..44; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 58..78; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 94..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 146..166; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 191..211; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 219..239; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins