C19orf12
entrez
83636
canonical
uniprot
Q9NSK7
canonical
ensembl
ENSG00000131943
resolver
ensp
ENSP00000313332
resolver
ensp
ENSP00000376102
resolver
ensp
ENSP00000467117
resolver
ensp
ENSP00000482097
resolver
ensp
ENSP00000485413
resolver
ensp
ENSP00000507573
resolver
ensp
ENSP00000560509
resolver
genesymbol
C19orf12
resolver
hgnc
HGNC:25443
resolver
uniprot
B3KQ16
resolver
uniprot
Q0D2Q0
resolver
uniprot
Q6P4C5
resolver
uniprot
Q9BSL7
resolver
uniprot_entry
CS012_HUMAN
resolver
uniprot_sec
B3KQ16
resolver
uniprot_sec
Q0D2Q0
resolver
uniprot_sec
Q6P4C5
resolver
uniprot_sec
Q9BSL7
resolver
amino_acid_sequence
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:22508347, ECO:0000269|PubMed:22584950, ECO:0000269|PubMed:22704260, ECO:0000269|PubMed:23269600, ECO:0000269|PubMed:23278385, ECO:0000269|PubMed:23521069, ECO:0000269|PubMed:23857908, ECO:0000269|PubMed:25592411, ECO:0000269|PubMed:26136767, ECO:0000269|PubMed:26187298}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. {ECO:0000269|PubMed:23857908}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adipocyte protein localized at lipid droplet-mitochondria contact sites that governs lipid storage through regulation of mitochondrial fatty acid metabolism. {ECO:0000269|PubMed:38565923}.
uniprot
proteins
mass_dalton
15007
uniprot
proteins
protein_family
C19orf12 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21981780
uniprot
proteins
pubmed
22508347
uniprot
proteins
pubmed
22584950
uniprot
proteins
pubmed
22704260
uniprot
proteins
pubmed
23269600
uniprot
proteins
pubmed
23278385
uniprot
proteins
pubmed
23521069
uniprot
proteins
pubmed
23857908
uniprot
proteins
pubmed
25592411
uniprot
proteins
pubmed
26136767
uniprot
proteins
pubmed
26187298
uniprot
proteins
pubmed
38565923
uniprot
proteins
sequence_length
141
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:22508347, ECO:0000269|PubMed:26136767, ECO:0000269|PubMed:38565923}. Mitochondrion membrane {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:26136767}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:22508347}. Cytoplasm, cytosol {ECO:0000269|PubMed:26136767}. Lipid droplet {ECO:0000269|PubMed:38565923}. Note=Localizes to the lipid droplet-mitochondrial contact region (PubMed:38565923). In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria (PubMed:26136767). {ECO:0000269|PubMed:26136767, ECO:0000269|PubMed:38565923}.
uniprot
proteins
transmembrane_region
TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins