SMVT
entrez
8884
canonical
uniprot
Q9Y289
canonical
ensembl
ENSG00000138074
resolver
ensp
ENSP00000310208
resolver
ensp
ENSP00000384853
resolver
ensp
ENSP00000412115
resolver
ensp
ENSP00000562807
resolver
ensp
ENSP00000562810
resolver
ensp
ENSP00000562812
resolver
ensp
ENSP00000562813
resolver
ensp
ENSP00000562814
resolver
ensp
ENSP00000562815
resolver
ensp
ENSP00000562816
resolver
ensp
ENSP00000596590
resolver
ensp
ENSP00000596593
resolver
ensp
ENSP00000596596
resolver
ensp
ENSP00000632531
resolver
ensp
ENSP00000632532
resolver
ensp
ENSP00000632533
resolver
ensp
ENSP00000632534
resolver
ensp
ENSP00000662726
resolver
ensp
ENSP00000723881
resolver
enst
ENST00000310574
resolver
enst
ENST00000408041
resolver
enst
ENST00000442731
resolver
enst
ENST00000892748
resolver
enst
ENST00000892751
resolver
enst
ENST00000892753
resolver
enst
ENST00000892754
resolver
enst
ENST00000892755
resolver
enst
ENST00000892756
resolver
enst
ENST00000892757
resolver
enst
ENST00000926531
resolver
enst
ENST00000926534
resolver
enst
ENST00000926537
resolver
enst
ENST00000962472
resolver
enst
ENST00000962473
resolver
enst
ENST00000962474
resolver
enst
ENST00000962475
resolver
genesymbol
SLC5A6
resolver
genesymbol
SMVT
resolver
genesymbol_syn
SLC5A6
resolver
genesymbol_syn
SMVT
resolver
hgnc
HGNC:11041
resolver
uniprot
B2RB85
resolver
uniprot
D6W549
resolver
uniprot
F6UM80
resolver
uniprot
Q969Y5
resolver
uniprot
Q9HD19
resolver
uniprot_entry
F6UM80_HUMAN
resolver
uniprot_entry
Q9HD19_HUMAN
resolver
uniprot_entry
SC5A6_HUMAN
resolver
uniprot_sec
B2RB85
resolver
uniprot_sec
D6W549
resolver
uniprot_sec
Q969Y5
resolver
amino_acid_sequence
MSVGVSTSAPLSPTSGTSVGMSTFSIMDYVVFVLLLVLSLAIGLYHACRGWGRHTVGELLMADRKMGCLPVALSLLATFQSAVAILGVPSEIYRFGTQYWFLGCCYFLGLLIPAHIFIPVFYRLHLTSAYEYLELRFNKTVRVCGTVTFIFQMVIYMGVVLYAPSLALNAVTGFDLWLSVLALGIVCTVYTALGGLKAVIWTDVFQTLVMFLGQLAVIIVGSAKVGGLGRVWAVASQHGRISGFELDPDPFVRHTFWTLAFGGVFMMLSLYGVNQAQVQRYLSSRTEKAAVLSCYAVFPFQQVSLCVGCLIGLVMFAYYQEYPMSIQQAQAAPDQFVLYFVMDLLKGLPGLPGLFIACLFSGSLSTISSAFNSLATVTMEDLIRPWFPEFSEARAIMLSRGLAFGYGLLCLGMAYISSQMGPVLQAAISIFGMVGGPLLGLFCLGMFFPCANPPGAVVGLLAGLVMAFWIGIGSIVTSMGSSMPPSPSNGSSFSLPTNLTVATVTTLMPLTTFSKPTGLQRFYSLSYLWYSAHNSTTVIVVGLIVSLLTGRMRGRSLNPATIYPVLPKLLSLLPLSCQKRLHCRSYGQDHLDTGLFPEKPRNGVLGDSRDKEAMALDGTAYQGSSSTCILQETSL
uniprot
proteins
disease_involvement
DISEASE: Sodium-dependent multivitamin transporter deficiency (SMVTD) [MIM:618973]: An autosomal recessive multisystemic metabolic disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement. {ECO:0000269|PubMed:27904971, ECO:0000269|PubMed:31754459}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peripheral motor neuropathy, childhood-onset, biotin-responsive (COMNB) [MIM:619903]: An autosomal recessive disorder characterized by distal muscle weakness and atrophy appearing late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Additional features may include spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement. {ECO:0000269|PubMed:35013551}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-dependent multivitamin transporter that mediates the electrogenic transport of pantothenate, biotin, lipoate and iodide (PubMed:10329687, PubMed:15561972, PubMed:19211916, PubMed:20980265, PubMed:21570947, PubMed:22015582, PubMed:25809983, PubMed:25971966, PubMed:27904971, PubMed:28052864, PubMed:31754459). Functions as a Na(+)-coupled substrate symporter where the stoichiometry of Na(+):substrate is 2:1, creating an electrochemical Na(+) gradient used as driving force for substrate uptake (PubMed:10329687, PubMed:20980265). Required for biotin and pantothenate uptake in the intestine across the brush border membrane (PubMed:19211916). Plays a role in the maintenance of intestinal mucosa integrity, by providing the gut mucosa with biotin (By similarity). Contributes to the luminal uptake of biotin and pantothenate into the brain across the blood-brain barrier (PubMed:25809983). {ECO:0000250|UniProtKB:Q5U4D8, ECO:0000269|PubMed:10329687, ECO:0000269|PubMed:15561972, ECO:0000269|PubMed:19211916, ECO:0000269|PubMed:20980265, ECO:0000269|PubMed:21570947, ECO:0000269|PubMed:22015582, ECO:0000269|PubMed:25809983, ECO:0000269|PubMed:25971966, ECO:0000269|PubMed:27904971, ECO:0000269|PubMed:28052864, ECO:0000269|PubMed:31754459}.
uniprot
proteins
mass_dalton
68642
uniprot
proteins
mutagenesis
MUTAGEN 68; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 78; /note="T->A: Reduced membrane localization. Decrease in biotin transport."; /evidence="ECO:0000269|PubMed:28052864"; MUTAGEN 104; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 128; /note="S->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:28052864"; MUTAGEN 138; /note="N->A: Reduced protein levels. Decrease in biotin transport."; /evidence="ECO:0000269|PubMed:21570947"; MUTAGEN 144; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 187; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 242; /note="S->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:28052864"; MUTAGEN 283; /note="S->A: No effect on protein levels or membrane localization."; /evidence="ECO:0000269|PubMed:21570947"; MUTAGEN 286; /note="T->A: Resistant to phorbol 12-myristate 13-acetate (PMA)-induced inhibition of biotin transport. No effect on protein levels or membrane localization."; /evidence="ECO:0000269|PubMed:21570947"; MUTAGEN 294; /note="C->A: Reduced membrane localization. Decrease in biotin transport (decreased Vmax, no change in Km)."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 294; /note="C->S,M: Decrease in biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 309; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 358; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 366; /note="T->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:28052864"; MUTAGEN 410; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 443; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 450; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 489; /note="N->A: Slight decrease in protein levels. Decrease in biotin transport."; /evidence="ECO:0000269|PubMed:21570947"; MUTAGEN 498; /note="N->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:21570947"; MUTAGEN 534; /note="N->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:21570947"; MUTAGEN 567..635; /note="Missing: Loss of biotin transport. Loss of membrane localization."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 570..635; /note="Missing: Loss of biotin transport. Loss of membrane localization."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 575..635; /note="Missing: Partial loss (75%) of biotine transport. Apical membrane localization and intracellular structure localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 577; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 583; /note="C->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 584..635; /note="Missing: Partial loss (75%) of biotine transport. Apical membrane localization and intracellular structure localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 600..635; /note="Missing: Partial loss (75%) of biotine transport. Apical membrane localization and intracellular structure localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 612..635; /note="Missing: Partial loss (75%) of biotine transport. Apical membrane localization and intracellular structure localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 616..635; /note="Missing: Loss of apical membrane localization in polarized cells. Basolateral localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 620..635; /note="Missing: Partial loss (25%) of biotine transport. No change in apical membrane localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 624..635; /note="Missing: Partial loss (25%) of biotine transport. No change in apical membrane localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916"; MUTAGEN 627; /note="T->A: No effect on biotin transport."; /evidence="ECO:0000269|PubMed:28052864"; MUTAGEN 628; /note="C->A,S: Decrease in biotin transport."; /evidence="ECO:0000269|PubMed:22015582"; MUTAGEN 632..635; /note="Missing: Partial loss (25%) of biotine transport. No change in apical membrane localization in polarized cells."; /evidence="ECO:0000269|PubMed:19211916
uniprot
proteins
post_translational_modification
PTM: May be glycosylated. {ECO:0000269|PubMed:21570947}.
uniprot
proteins
protein_family
Sodium:solute symporter (SSF) (TC 2.A.21) family
uniprot
proteins
pubmed
10329687
uniprot
proteins
pubmed
10334869
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15561972
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19211916
uniprot
proteins
pubmed
20980265
uniprot
proteins
pubmed
21183659
uniprot
proteins
pubmed
21570947
uniprot
proteins
pubmed
22015582
uniprot
proteins
pubmed
25809983
uniprot
proteins
pubmed
25971966
uniprot
proteins
pubmed
27904971
uniprot
proteins
pubmed
28052864
uniprot
proteins
pubmed
31754459
uniprot
proteins
pubmed
35013551
uniprot
proteins
sequence_length
635
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25809983, ECO:0000269|PubMed:27904971, ECO:0000269|PubMed:35013551}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:19211916}; Multi-pass membrane protein {ECO:0000255}. Note=Preferentially localized at the luminal membrane of brain capillary endothelium (PubMed:25809983). Localized to the brush border/apical membrane of intestine and renal polarized cells (PubMed:19211916). {ECO:0000269|PubMed:19211916, ECO:0000269|PubMed:25809983}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28052864}; Multi-pass membrane protein {ECO:0000255}. Note=(Microbial infection) Exposure to E.coli lipopolysaccharides leads to reduced cell membrane localization. {ECO:0000269|PubMed:28052864}.
uniprot
proteins
transmembrane_region
TRANSMEM 24..44; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 101..121; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 256..276; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 297..317; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 336..356; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 396..416; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 428..448; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 456..476; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 528..548; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins