SLC10A7 - solute carrier family 10 member 7 Gene

Also Known as P7; SSASKS; C4orf13

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84068

About SLC10A7

Cytogenetic location: 4q31.22 Genomic coordinates (GRCh38): 4:146,253,981-146,521,940 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 1.0), stomach (RPKM 1.0) and 25 other tissues.

Summary

Enables bile acid transmembrane transporter activity. Involved in several processes, including cellular calcium ion homeostasis; glycoprotein transport; and heparin biosynthetic process. Located in Golgi apparatus and endoplasmic reticulum. Is intrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC10A7 Products (6)

mRNA Protein Name
NM_001029998.6 NP_001025169.1 sodium/bile acid cotransporter 7 isoform b
NM_001300842.3 NP_001287771.1 sodium/bile acid cotransporter 7 isoform d
NM_001317816.2 NP_001304745.1 sodium/bile acid cotransporter 7 isoform e
NM_001317817.2 NP_001304746.1 sodium/bile acid cotransporter 7 isoform f
NM_001317818.2 NP_001304747.1 sodium/bile acid cotransporter 7 isoform g
NM_032128.5 NP_115504.1 sodium/bile acid cotransporter 7 isoform c
Molecular Function GO Annotation Evidence 参考文献 由来
enables bile acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
22029531 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in Golgi vesicle transport IDA
IDA: Inferred from direct assay
22029531 GOA
involved in bone development IMP
IMP: Inferred from mutant phenotype
30082715 GOA
involved in glycoprotein transport IDA
IDA: Inferred from direct assay
22029531 GOA
involved in heparin biosynthetic process IMP
IMP: Inferred from mutant phenotype
30082715 GOA
involved in intracellular calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
30082715 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in Golgi apparatus IDA
IDA: Inferred from direct assay
29878199 GOA
located in Golgi medial cisterna IDA
IDA: Inferred from direct assay
22029531 GOA
located in cis-Golgi network IDA
IDA: Inferred from direct assay
22029531 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
17628207 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
17628207 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
22029531 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC10A7 Protein Structure

SBF_like

SBF_like: SBF-like CPA transporter family (DUF4137) (10 - 323)

  • 0
  • 100
  • 200
  • 300
  • 358 a.a.
Protein Preferred Names Protein Names

sodium/bile acid cotransporter 7

  • Na(+)/bile acid cotransporter 7

SLC10A7 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SLC10A7 Q0GE19 DPY19L4 Homo sapiens Q7Z388 28514442
Intra
SLC10A7 Q0GE19 DPY19L4 Homo sapiens Q7Z388 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
  • SSASKS

Amelogenesis Imperfecta
  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
  • Nevo Syndrome

  • Eds Vi

  • Ehlers-Danlos Syndrome, Type Vi

  • Eds Via

  • Ehlers-Danlos Syndrome Type 6

  • EDSKSCL1

  • Eds6

  • Ehlers-Danlos Syndrome Kyphoscoliotic Type 1

  • Kyphoscoliotic Ehlers-Danlos Syndrome

  • Cutis Hyperelastica

  • Ehlers-Danlos Syndrome Type 6a

  • Ehlers-Danlos Syndrome Oculoscoliotic Type

  • Kyphoscoliotic Eds

  • Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency

  • Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency

  • Lysyl Hydroxylase-Deficient Eds

  • Ocular-Scoliotic Eds

  • Keds

  • Keds-Plod1

  • Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1

  • Ehlers-Danlos Syndrome, Ocular-Scoliotic Type

  • Ehlers-Danlos Syndrome, Type Via, Formerly

  • Eds6a, Formerly

  • Eds 6

  • Eds, Kyphoscoliotic Type

  • Eds, Oculoscoliotic Type

  • Ehlers-Danlos Syndrome, Kyphoscoliosis Type

  • Ehlers-Danlos Syndrome, Kyphoscoliotic Type

  • Ehlers-Danlos Syndrome, Oculoscoliotic Type

  • Eds6a

  • Ehlers-Danlos Syndrome 6

  • Ehlers-Danlos Syndrome Kyphoscoliotic Type

Desbuquois Dysplasia
  • Desbuquois Syndrome

  • Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

  • Dysplasia, Desbuquois

Congenital Disorder Of Glycosylation, Type Iik
  • CDG2K

  • Congenital Disorder Of Glycosylation Type Iik

  • Cdg Iik

  • Cdgiik

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iik

  • Cdg Syndrome Type Iik

  • Congenital Disorder Of Glycosylation Type 2k

  • Tmem165-Cdg

  • Cdg-Iik

  • Cdgiidk

  • Congenital Disorder Of Glycosylation 2k

  • Glycosylation, Congenital Disorder Of, Type Iik

Spondyloepimetaphyseal Dysplasia, Sponastrime Type
  • Sponastrime Dysplasia

  • Spondylar And Nasal Alterations With Striated Metaphyses

  • SEMDSP

  • Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

  • Spondylar And Nasal Alterations-Striated Metaphyses Syndrome

  • Spondyloepimetaphyseal Dysplasia Sponastrime Type

  • Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

  • Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia

  • Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation

  • Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Brachyolmia
  • Brachyrachia

Scoliosis
Congenital Disorder Of Glycosylation, Type In
  • Congenital Disorder Of Glycosylation

  • CDG1N

  • Congenital Disorders Of Glycosylation

  • Cdg In

  • Cdgin

  • Congenital Disorder Of Glycosylation 1n

  • Carbohydrate-Deficient Glycoprotein Syndrome

  • Cdg

  • Rft1-Cdg

  • Cdg-In

  • Congenital Disorder Of Glycosylation Type In

  • Carbohydrate Deficient Glycoprotein Syndrome

  • Cdg Syndrome

  • Congenital Disorder Of Glycosylation In

  • Carbohydrate-Deficient Glycoprotein Syndromes

  • Cdg Syndrome Type In

  • Carbohydrate Deficient Glycoprotein Syndrome Type In

  • Congenital Disorder Of Glycosylation Type 1n

  • Man5glcnac2-Pp-Dol Flippase Deficiency

  • Glycosylation, Congenital Disorder Of

  • Glycosylation, Congenital Disorder Of, Type In

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Macaca mulatta SLC10A7 VGNC VGNC:77555
Felis catus SLC10A7 VGNC VGNC:65185
Mus musculus SLC10A7 MGD MGI:1924025
Canis familiaris SLC10A7 VGNC VGNC:46215
Rattus norvegicus SLC10A7 RGD RGD:1564388
Bos taurus SLC10A7 VGNC VGNC:106930
Others SLC10A7 NCBI