SLC10A7
entrez
84068
canonical
uniprot
Q0GE19
canonical
ensembl
ENSG00000120519
resolver
ensp
ENSP00000334594
resolver
ensp
ENSP00000377623
resolver
ensp
ENSP00000411297
resolver
ensp
ENSP00000421275
resolver
ensp
ENSP00000421603
resolver
ensp
ENSP00000422577
resolver
ensp
ENSP00000643203
resolver
genesymbol
SLC10A7
resolver
genesymbol_syn
C4orf13
resolver
genesymbol_syn
P7
resolver
hgnc
HGNC:23088
resolver
uniprot
A7E2E6
resolver
uniprot
A7MAX9
resolver
uniprot
Q0VAP9
resolver
uniprot
Q45NG1
resolver
uniprot
Q45NG2
resolver
uniprot
Q5H9S6
resolver
uniprot
Q6P4E6
resolver
uniprot
Q8IZ62
resolver
uniprot
Q8NBP8
resolver
uniprot
Q9H0M9
resolver
uniprot_entry
NTCP7_HUMAN
resolver
uniprot_sec
A7E2E6
resolver
uniprot_sec
A7MAX9
resolver
uniprot_sec
Q0VAP9
resolver
uniprot_sec
Q45NG1
resolver
uniprot_sec
Q45NG2
resolver
uniprot_sec
Q5H9S6
resolver
uniprot_sec
Q6P4E6
resolver
uniprot_sec
Q8IZ62
resolver
uniprot_sec
Q8NBP8
resolver
uniprot_sec
Q9H0M9
resolver
amino_acid_sequence
MRLLERMRKDWFMVGIVLAIAGAKLEPSIGVNGGPLKPEITVSYIAVATIFFNSGLSLKTEELTSALVHLKLHLFIQIFTLAFFPATIWLFLQLLSITPINEWLLKGLQTVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVITPLLLLLFLGSSSSVPFTSIFSQLFMTVVVPLIIGQIVRRYIKDWLERKKPPFGAISSSVLLMIIYTTFCDTFSNPNIDLDKFSLVLILFIIFSIQLSFMLLTFIFSTRNNSGFTPADTVAIIFCSTHKSLTLGIPMLKIVFAGHEHLSLISVPLLIYHPAQILLGSVLVPTIKSWMVSRQKGVKLTRPTV
uniprot
proteins
disease_involvement
DISEASE: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363]: An autosomal recessive disorder characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, hearing impairment, and mildly impaired intellectual development. {ECO:0000269|PubMed:29878199, ECO:0000269|PubMed:30082715, ECO:0000269|PubMed:31191616}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization (PubMed:29878199, PubMed:30082715). Also involved in the regulation of cellular calcium homeostasis (PubMed:30082715, PubMed:31191616). Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate). {ECO:0000269|PubMed:17628207, ECO:0000269|PubMed:29878199, ECO:0000269|PubMed:30082715, ECO:0000269|PubMed:31191616}.
uniprot
proteins
mass_dalton
37432
uniprot
proteins
protein_family
Bile acid:sodium symporter (BASS) (TC 2.A.28) family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15932064
uniprot
proteins
pubmed
17628207
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
29878199
uniprot
proteins
pubmed
30082715
uniprot
proteins
pubmed
31191616
uniprot
proteins
sequence_length
340
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17628207, ECO:0000269|PubMed:30082715}; Multi-pass membrane protein {ECO:0000305|PubMed:17628207}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17628207}; Multi-pass membrane protein {ECO:0000305|PubMed:17628207}. Golgi apparatus membrane {ECO:0000269|PubMed:29878199}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 38..58; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 72..92; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 117..137; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..159; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 164..184; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 235..255; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 271..291; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 299..319; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins