SLC44A1
entrez
23446
canonical
uniprot
Q8WWI5
canonical
ensembl
ENSG00000070214
resolver
ensp
ENSP00000363852
resolver
ensp
ENSP00000363855
resolver
ensp
ENSP00000363856
resolver
ensp
ENSP00000514271
resolver
genesymbol
SLC44A1
resolver
genesymbol_syn
CD92
resolver
genesymbol_syn
CDW92
resolver
genesymbol_syn
CTL1
resolver
hgnc
HGNC:18798
resolver
uniprot
A6NLZ9
resolver
uniprot
Q5VUB3
resolver
uniprot
Q8WVB0
resolver
uniprot
Q96KU3
resolver
uniprot
Q9NY69
resolver
uniprot_entry
CTL1_HUMAN
resolver
uniprot_sec
A6NLZ9
resolver
uniprot_sec
Q5VUB3
resolver
uniprot_sec
Q8WVB0
resolver
uniprot_sec
Q96KU3
resolver
uniprot_sec
Q9NY69
resolver
amino_acid_sequence
MGCCSSASSAAQSSKREWKPLEDRSCTDIPWLLLFILFCIGMGFICGFSIATGAAARLVSGYDSYGNICGQKNTKLEAIPNSGMDHTQRKYVFFLDPCNLDLINRKIKSVALCVAACPRQELKTLSDVQKFAEINGSALCSYNLKPSEYTTSPKSSVLCPKLPVPASAPIPFFHRCAPVNISCYAKFAEALITFVSDNSVLHRLISGVMTSKEIILGLCLLSLVLSMILMVIIRYISRVLVWILTILVILGSLGGTGVLWWLYAKQRRSPKETVTPEQLQIAEDNLRALLIYAISATVFTVILFLIMLVMRKRVALTIALFHVAGKVFIHLPLLVFQPFWTFFALVLFWVYWIMTLLFLGTTGSPVQNEQGFVEFKISGPLQYMWWYHVVGLIWISEFILACQQMTVAGAVVTYYFTRDKRNLPFTPILASVNRLIRYHLGTVAKGSFIITLVKIPRMILMYIHSQLKGKENACARCVLKSCICCLWCLEKCLNYLNQNAYTATAINSTNFCTSAKDAFVILVENALRVATINTVGDFMLFLGKVLIVCSTGLAGIMLLNYQQDYTVWVLPLIIVCLFAFLVAHCFLSIYEMVVDVLFLCFAIDTKYNDGSPGREFYMDKVLMEFVENSRKAMKEAGKGGVADSRELKPMASGASSA
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) [MIM:618868]: An autosomal recessive neurodegenerative disease characterized by progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrates cerebellar atrophy and leukoencephalopathy. {ECO:0000269|PubMed:31855247}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Choline/H+ antiporter (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute intracellular Etn and balance the CDP-Cho and CDP-Etn arms of the Kennedy pathway (PubMed:33789160). Involved in membrane synthesis and myelin production (PubMed:31855247). {ECO:0000269|PubMed:19357133, ECO:0000269|PubMed:23651124, ECO:0000269|PubMed:31855247, ECO:0000269|PubMed:33789160}.
uniprot
proteins
mass_dalton
73302
uniprot
proteins
protein_family
CTL (choline transporter-like) family
uniprot
proteins
pubmed
10677542
uniprot
proteins
pubmed
11698453
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15715662
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19357133
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23651124
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31855247
uniprot
proteins
pubmed
33789160
uniprot
proteins
sequence_length
657
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19357133, ECO:0000269|PubMed:31855247}; Multi-pass membrane protein {ECO:0000269|PubMed:19357133}. Mitochondrion outer membrane {ECO:0000269|PubMed:19357133}; Multi-pass membrane protein {ECO:0000269|PubMed:19357133}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..51; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 213..233; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 239..259; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 316..336; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 381..401; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 538..558; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 567..587; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins