UniProtKB - Q0GE19 (NTCP7_HUMAN)
Protein
Sodium/bile acid cotransporter 7
Gene
SLC10A7
Organism
Homo sapiens (Human)
Status
Functioni
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:30082715, PubMed:29878199). 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).4 Publications
GO - Molecular functioni
- bile acid transmembrane transporter activity Source: UniProtKB
- symporter activity Source: UniProtKB-KW
GO - Biological processi
- bone development Source: UniProtKB
- cellular calcium ion homeostasis Source: UniProtKB
- glycoprotein transport Source: UniProtKB
- Golgi vesicle transport Source: UniProtKB
- heparin biosynthetic process Source: UniProtKB
- sodium ion transport Source: UniProtKB-KW
Keywordsi
Biological process | Ion transport, Sodium transport, Symport, Transport |
Ligand | Sodium |
Enzyme and pathway databases
PathwayCommonsi | Q0GE19 |
Protein family/group databases
TCDBi | 2.A.28.3.1, the bile acid:na(+) symporter (bass) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium/bile acid cotransporter 7Alternative name(s): Na(+)/bile acid cotransporter 7 Solute carrier family 10 member 7 |
Gene namesi | Name:SLC10A7 Synonyms:C4orf13, P7 ORF Names:PSEC0051 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000120519.14 |
HGNCi | HGNC:23088, SLC10A7 |
MIMi | 611459, gene |
neXtProti | NX_Q0GE19 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication
Golgi apparatus
- Golgi apparatus membrane 1 Publication
Plasma membrane
- Cell membrane 2 Publications; Multi-pass membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Golgi apparatus
- cis-Golgi network Source: UniProtKB
- Golgi apparatus Source: UniProtKB
- Golgi medial cisterna Source: UniProtKB
- Golgi membrane Source: UniProtKB-SubCell
- trans-Golgi network Source: UniProtKB
Plasma Membrane
- intrinsic component of plasma membrane Source: UniProtKB
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 10 | Cytoplasmic1 Publication | 10 | |
Transmembranei | 11 – 31 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 32 – 37 | Extracellular1 Publication | 6 | |
Transmembranei | 38 – 58 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 59 – 71 | Cytoplasmic1 PublicationAdd BLAST | 13 | |
Transmembranei | 72 – 92 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 93 – 116 | Extracellular1 PublicationAdd BLAST | 24 | |
Transmembranei | 117 – 137 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 138 | Cytoplasmic1 Publication | 1 | |
Transmembranei | 139 – 159 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 160 – 163 | Extracellular1 Publication | 4 | |
Transmembranei | 164 – 184 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 185 – 201 | Cytoplasmic1 PublicationAdd BLAST | 17 | |
Transmembranei | 202 – 222 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 223 – 234 | Extracellular1 PublicationAdd BLAST | 12 | |
Transmembranei | 235 – 255 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 256 – 270 | Cytoplasmic1 PublicationAdd BLAST | 15 | |
Transmembranei | 271 – 291 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 292 – 298 | Extracellular1 Publication | 7 | |
Transmembranei | 299 – 319 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 320 – 340 | Cytoplasmic1 PublicationAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082056 | 74 | L → P in SSASKS; decreased protein levels; decreased expression at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1560980659EnsemblClinVar. | 1 | |
Natural variantiVAR_082057 | 112 | G → D in SSASKS. 1 PublicationCorresponds to variant dbSNP:rs1560973571EnsemblClinVar. | 1 | |
Natural variantiVAR_082058 | 130 | G → R in SSASKS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1560973467EnsemblClinVar. | 1 | |
Natural variantiVAR_082059 | 185 – 340 | Missing in SSASKS. 1 PublicationAdd BLAST | 156 | |
Natural variantiVAR_082060 | 303 | P → L in SSASKS; mild skeletal features; results in altered regulation of calcium homeostasis and abnormal distribution of cellular calcium in patient fibroblasts. 1 Publication | 1 |
Keywords - Diseasei
Amelogenesis imperfecta, Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 84068 |
MalaCardsi | SLC10A7 |
MIMi | 618363, phenotype |
OpenTargetsi | ENSG00000120519 |
PharmGKBi | PA162403478 |
Miscellaneous databases
Pharosi | Q0GE19, Tdark |
Polymorphism and mutation databases
BioMutai | SLC10A7 |
DMDMi | 121946408 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000278250 | 1 – 340 | Sodium/bile acid cotransporter 7Add BLAST | 340 |
Proteomic databases
EPDi | Q0GE19 |
jPOSTi | Q0GE19 |
MassIVEi | Q0GE19 |
PaxDbi | Q0GE19 |
PeptideAtlasi | Q0GE19 |
PRIDEi | Q0GE19 |
ProteomicsDBi | 58749 [Q0GE19-1] 58750 [Q0GE19-2] 58751 [Q0GE19-3] 58752 [Q0GE19-4] 58753 [Q0GE19-5] 58754 [Q0GE19-6] 58755 [Q0GE19-7] |
PTM databases
iPTMneti | Q0GE19 |
PhosphoSitePlusi | Q0GE19 |
Expressioni
Tissue specificityi
Widely expressed (PubMed:15932064, PubMed:17628207). Expressed at high levels in liver and at lower levels in prostate, placenta, kidney, heart, lung, thymus and spleen (PubMed:15932064, PubMed:17628207). Strongly expressed in testis and also detected in brain, ovary, colon and small intestine (PubMed:17628207). Weakly expressed in testis and not detected in brain, ovary, colon or small intestine (PubMed:15932064). Isoform 1: Expressed in liver, testis and placenta (PubMed:17628207). Isoform 4: Expressed in liver, testis and placenta (PubMed:17628207).2 Publications
Developmental stagei
Detected in the heart and vertebrae in embryos at 8 weeks of gestation (Carnegie stage 16), and in the long-bone cartilage at 9 weeks (Carnegie stages 19).1 Publication
Gene expression databases
Bgeei | ENSG00000120519, Expressed in colon and 195 other tissues |
Genevisiblei | Q0GE19, HS |
Organism-specific databases
HPAi | ENSG00000120519, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 123863, 13 interactors |
IntActi | Q0GE19, 11 interactors |
STRINGi | 9606.ENSP00000421275 |
Miscellaneous databases
RNActi | Q0GE19, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4821, Eukaryota |
GeneTreei | ENSGT00390000011932 |
HOGENOMi | CLU_039013_0_0_1 |
InParanoidi | Q0GE19 |
OMAi | FFFYGLK |
OrthoDBi | 949808at2759 |
PhylomeDBi | Q0GE19 |
TreeFami | TF329411 |
Family and domain databases
Gene3Di | 1.20.1530.20, 1 hit |
InterProi | View protein in InterPro IPR038770, Na+/solute_symporter_sf IPR016833, Put_Na-Bile_cotransptr |
PANTHERi | PTHR18640, PTHR18640, 1 hit |
Pfami | View protein in Pfam PF13593, SBF_like, 1 hit |
PIRSFi | PIRSF026166, UCP026166, 1 hit |
s (7)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketIsoform 2 (identifier: Q0GE19-2) [UniParc]FASTAAdd to basket
Also known as: A
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRLLERMRKD WFMVGIVLAI AGAKLEPSIG VNGGPLKPEI TVSYIAVATI
60 70 80 90 100
FFNSGLSLKT EELTSALVHL KLHLFIQIFT LAFFPATIWL FLQLLSITPI
110 120 130 140 150
NEWLLKGLQT VGCMPPPVSS AVILTKAVGG NEAAAIFNSA FGSFLGIVIT
160 170 180 190 200
PLLLLLFLGS SSSVPFTSIF SQLFMTVVVP LIIGQIVRRY IKDWLERKKP
210 220 230 240 250
PFGAISSSVL LMIIYTTFCD TFSNPNIDLD KFSLVLILFI IFSIQLSFML
260 270 280 290 300
LTFIFSTRNN SGFTPADTVA IIFCSTHKSL TLGIPMLKIV FAGHEHLSLI
310 320 330 340
SVPLLIYHPA QILLGSVLVP TIKSWMVSRQ KGVKLTRPTV
Sequence cautioni
The sequence BAC11571 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 296 | H → Y in BAC11571 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082056 | 74 | L → P in SSASKS; decreased protein levels; decreased expression at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1560980659EnsemblClinVar. | 1 | |
Natural variantiVAR_082057 | 112 | G → D in SSASKS. 1 PublicationCorresponds to variant dbSNP:rs1560973571EnsemblClinVar. | 1 | |
Natural variantiVAR_082058 | 130 | G → R in SSASKS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1560973467EnsemblClinVar. | 1 | |
Natural variantiVAR_082059 | 185 – 340 | Missing in SSASKS. 1 PublicationAdd BLAST | 156 | |
Natural variantiVAR_082060 | 303 | P → L in SSASKS; mild skeletal features; results in altered regulation of calcium homeostasis and abnormal distribution of cellular calcium in patient fibroblasts. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023215 | 62 – 85 | ELTSA…LAFFP → FADSRLHASACVFCSDFNQG SWWK in isoform 7. 1 PublicationAdd BLAST | 24 | |
Alternative sequenceiVSP_023216 | 62 | E → L in isoform 6. 1 Publication | 1 | |
Alternative sequenceiVSP_023217 | 65 – 340 | Missing in isoform 6. 1 PublicationAdd BLAST | 276 | |
Alternative sequenceiVSP_023218 | 86 – 340 | Missing in isoform 7. 1 PublicationAdd BLAST | 255 | |
Alternative sequenceiVSP_023219 | 133 – 145 | Missing in isoform 3. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_023220 | 146 – 159 | GIVIT…LLFLG → VSKHSLTCLLQLLL in isoform 5. 1 PublicationAdd BLAST | 14 | |
Alternative sequenceiVSP_023221 | 160 – 340 | Missing in isoform 5. 1 PublicationAdd BLAST | 181 | |
Alternative sequenceiVSP_023222 | 186 | I → E in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_023223 | 187 – 340 | Missing in isoform 4. 1 PublicationAdd BLAST | 154 | |
Alternative sequenceiVSP_059321 | 332 – 340 | GVKLTRPTV → KLLQTRGPLANLNNPEGLEY LSIKFGH in isoform 1. 1 Publication | 9 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000335472; ENSP00000334594; ENSG00000120519 [Q0GE19-2] ENST00000394059; ENSP00000377623; ENSG00000120519 [Q0GE19-5] ENST00000432059; ENSP00000411297; ENSG00000120519 [Q0GE19-3] ENST00000502607; ENSP00000422577; ENSG00000120519 [Q0GE19-6] ENST00000507030; ENSP00000421275; ENSG00000120519 [Q0GE19-1] ENST00000511374; ENSP00000421603; ENSG00000120519 [Q0GE19-7] |
GeneIDi | 84068 |
KEGGi | hsa:84068 |
UCSCi | uc003ikr.3, human [Q0GE19-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123863, 13 interactors |
IntActi | Q0GE19, 11 interactors |
STRINGi | 9606.ENSP00000421275 |
Protein family/group databases
TCDBi | 2.A.28.3.1, the bile acid:na(+) symporter (bass) family |
PTM databases
iPTMneti | Q0GE19 |
PhosphoSitePlusi | Q0GE19 |
Polymorphism and mutation databases
BioMutai | SLC10A7 |
DMDMi | 121946408 |
Proteomic databases
EPDi | Q0GE19 |
jPOSTi | Q0GE19 |
MassIVEi | Q0GE19 |
PaxDbi | Q0GE19 |
PeptideAtlasi | Q0GE19 |
PRIDEi | Q0GE19 |
ProteomicsDBi | 58749 [Q0GE19-1] 58750 [Q0GE19-2] 58751 [Q0GE19-3] 58752 [Q0GE19-4] 58753 [Q0GE19-5] 58754 [Q0GE19-6] 58755 [Q0GE19-7] |
Protocols and materials databases
Antibodypediai | 27520, 91 antibodies |
DNASUi | 84068 |
Genome annotation databases
Ensembli | ENST00000335472; ENSP00000334594; ENSG00000120519 [Q0GE19-2] ENST00000394059; ENSP00000377623; ENSG00000120519 [Q0GE19-5] ENST00000432059; ENSP00000411297; ENSG00000120519 [Q0GE19-3] ENST00000502607; ENSP00000422577; ENSG00000120519 [Q0GE19-6] ENST00000507030; ENSP00000421275; ENSG00000120519 [Q0GE19-1] ENST00000511374; ENSP00000421603; ENSG00000120519 [Q0GE19-7] |
GeneIDi | 84068 |
KEGGi | hsa:84068 |
UCSCi | uc003ikr.3, human [Q0GE19-2] |
Organism-specific databases
CTDi | 84068 |
DisGeNETi | 84068 |
EuPathDBi | HostDB:ENSG00000120519.14 |
GeneCardsi | SLC10A7 |
HGNCi | HGNC:23088, SLC10A7 |
HPAi | ENSG00000120519, Low tissue specificity |
MalaCardsi | SLC10A7 |
MIMi | 611459, gene 618363, phenotype |
neXtProti | NX_Q0GE19 |
OpenTargetsi | ENSG00000120519 |
PharmGKBi | PA162403478 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4821, Eukaryota |
GeneTreei | ENSGT00390000011932 |
HOGENOMi | CLU_039013_0_0_1 |
InParanoidi | Q0GE19 |
OMAi | FFFYGLK |
OrthoDBi | 949808at2759 |
PhylomeDBi | Q0GE19 |
TreeFami | TF329411 |
Enzyme and pathway databases
PathwayCommonsi | Q0GE19 |
Miscellaneous databases
BioGRID-ORCSi | 84068, 11 hits in 844 CRISPR screens |
ChiTaRSi | SLC10A7, human |
GeneWikii | SLC10A7 |
GenomeRNAii | 84068 |
Pharosi | Q0GE19, Tdark |
PROi | PR:Q0GE19 |
RNActi | Q0GE19, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120519, Expressed in colon and 195 other tissues |
Genevisiblei | Q0GE19, HS |
Family and domain databases
Gene3Di | 1.20.1530.20, 1 hit |
InterProi | View protein in InterPro IPR038770, Na+/solute_symporter_sf IPR016833, Put_Na-Bile_cotransptr |
PANTHERi | PTHR18640, PTHR18640, 1 hit |
Pfami | View protein in Pfam PF13593, SBF_like, 1 hit |
PIRSFi | PIRSF026166, UCP026166, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NTCP7_HUMAN | |
Accessioni | Q0GE19Primary (citable) accession number: Q0GE19 Secondary accession number(s): A7E2E6 Q9H0M9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 20, 2007 |
Last sequence update: | February 28, 2018 | |
Last modified: | December 2, 2020 | |
This is version 124 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations