SLC44A4
entrez
80736
canonical
uniprot
Q53GD3
canonical
ensembl
ENSG00000204385
resolver
ensembl
ENSG00000206378
resolver
ensembl
ENSG00000228263
resolver
ensembl
ENSG00000229077
resolver
ensembl
ENSG00000231479
resolver
ensembl
ENSG00000232180
resolver
ensembl
ENSG00000235336
resolver
ensp
ENSP00000229729
resolver
ensp
ENSP00000364712
resolver
ensp
ENSP00000389244
resolver
ensp
ENSP00000398852
resolver
ensp
ENSP00000414120
resolver
ensp
ENSP00000444109
resolver
ensp
ENSP00000447704
resolver
ensp
ENSP00000448474
resolver
ensp
ENSP00000449232
resolver
enst
ENST00000415517
resolver
enst
ENST00000417894
resolver
enst
ENST00000442152
resolver
enst
ENST00000547493
resolver
enst
ENST00000550401
resolver
enst
ENST00000553121
resolver
genesymbol
SLC44A4
resolver
genesymbol_syn
C6orf29
resolver
genesymbol_syn
CTL4
resolver
genesymbol_syn
NG22
resolver
genesymbol_syn
TPPT1
resolver
hgnc
HGNC:13941
resolver
uniprot
A0A140VJH4
resolver
uniprot
A2BED3
resolver
uniprot
B0UXX8
resolver
uniprot
B0UZY8
resolver
uniprot
B4DU94
resolver
uniprot
B4DWM2
resolver
uniprot
E9PEK7
resolver
uniprot
Q5JP84
resolver
uniprot
Q5JQ93
resolver
uniprot
Q658S8
resolver
uniprot
Q6UX89
resolver
uniprot
Q8TEW4
resolver
uniprot
Q96C58
resolver
uniprot
Q96K59
resolver
uniprot
Q9Y332
resolver
uniprot_entry
A0A140VJH4_HUMAN
resolver
uniprot_entry
CTL4_HUMAN
resolver
uniprot_sec
A2BED3
resolver
uniprot_sec
B0UXX8
resolver
uniprot_sec
B0UZY8
resolver
uniprot_sec
B4DU94
resolver
uniprot_sec
B4DWM2
resolver
uniprot_sec
E9PEK7
resolver
uniprot_sec
Q5JP84
resolver
uniprot_sec
Q5JQ93
resolver
uniprot_sec
Q658S8
resolver
uniprot_sec
Q6UX89
resolver
uniprot_sec
Q8TEW4
resolver
uniprot_sec
Q96C58
resolver
uniprot_sec
Q96K59
resolver
uniprot_sec
Q9Y332
resolver
amino_acid_sequence
MGGKQRDEDDEAYGKPVKYDPSFRGPIKNRSCTDVICCVLFLLFILGYIVVGIVAWLYGDPRQVLYPRNSTGAYCGMGENKDKPYLLYFNIFSCILSSNIISVAENGLQCPTPQVCVSSCPEDPWTVGKNEFSQTVGEVFYTKNRNFCLPGVPWNMTVITSLQQELCPSFLLPSAPALGRCFPWTNVTPPALPGITNDTTIQQGISGLIDSLNARDISVKIFEDFAQSWYWILVALGVALVLSLLFILLLRLVAGPLVLVLILGVLGVLAYGIYYCWEEYRVLRDKGASISQLGFTTNLSAYQSVQETWLAALIVLAVLEAILLLMLIFLRQRIRIAIALLKEASKAVGQMMSTMFYPLVTFVLLLICIAYWAMTALYLATSGQPQYVLWASNISSPGCEKVPINTSCNPTAHLVNSSCPGLMCVFQGYSSKGLIQRSVFNLQIYGVLGLFWTLNWVLALGQCVLAGAFASFYWAFHKPQDIPTFPLISAFIRTLRYHTGSLAFGALILTLVQIARVILEYIDHKLRGVQNPVARCIMCCFKCCLWCLEKFIKFLNRNAYIMIAIYGKNFCVSAKNAFMLLMRNIVRVVVLDKVTDLLLFFGKLLVVGGVGVLSFFFFSGRIPGLGKDFKSPHLNYYWLPIMTSILGAYVIASGFFSVFGMCVDTLFLCFLEDLERNNGSLDRPYYMSKSLLKILGKKNEAPPDNKKRKK
uniprot
proteins
disease_involvement
DISEASE: Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis. {ECO:0000269|PubMed:12067718}.; DISEASE: Deafness, autosomal dominant, 72 (DFNA72) [MIM:617606]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss. {ECO:0000269|PubMed:28013291}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411, PubMed:26741288). {ECO:0000250|UniProtKB:Q7T2B0, ECO:0000269|PubMed:23651124, ECO:0000269|PubMed:24379411, ECO:0000269|PubMed:26741288, ECO:0000269|PubMed:28013291}.; FUNCTION: [Isoform 3]: Also has thiamine pyrophosphate transporter activity. {ECO:0000269|PubMed:24379411}.
uniprot
proteins
mass_dalton
79254
uniprot
proteins
mutagenesis
MUTAGEN 29; /note="N->D: No effect on glycosylation."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 69; /note="N->D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 155; /note="N->D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 197; /note="N->D: Decreases glycosylation levels. No effect on thiamine pyrophosphate uptake."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 298; /note="N->D: No effect on glycosylation."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 393; /note="N->D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 409; /note="N->D: No effect on glycosylation."; /evidence="ECO:0000269|PubMed:26828122"; MUTAGEN 416; /note="N->D: Decreases glycosylation levels. No effect on thiamine pyrophosphate uptake."; /evidence="ECO:0000269|PubMed:26828122
uniprot
proteins
post_translational_modification
PTM: N-glycosylated; N-glycosylation of Asn-69, Asn-155 and Asn-393 is required for a proper thiamine pyrophosphate uptake. {ECO:0000269|PubMed:26828122}.
uniprot
proteins
protein_family
CTL (choline transporter-like) family
uniprot
proteins
pubmed
10677542
uniprot
proteins
pubmed
12067718
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14656967
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23651124
uniprot
proteins
pubmed
24379411
uniprot
proteins
pubmed
26741288
uniprot
proteins
pubmed
26828122
uniprot
proteins
pubmed
28013291
uniprot
proteins
sequence_length
710
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24379411, ECO:0000269|PubMed:26828122}; Multi-pass membrane protein {ECO:0000305|PubMed:24379411, ECO:0000305|PubMed:26828122}. Apical cell membrane {ECO:0000269|PubMed:24379411}.
uniprot
proteins
transmembrane_region
TRANSMEM 35..55; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 230..250; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 253..273; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 310..330; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 359..379; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 456..476; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 502..522; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 561..581; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 598..618; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 639..659; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins