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SLC10A7 solute carrier family 10 member 7 [ Homo sapiens (human) ]

Gene ID: 84068, updated on 3-Apr-2024

Summary

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Official Symbol
SLC10A7provided by HGNC
Official Full Name
solute carrier family 10 member 7provided by HGNC
Primary source
HGNC:HGNC:23088
See related
Ensembl:ENSG00000120519 MIM:611459; AllianceGenome:HGNC:23088
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P7; SSASKS; C4orf13
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]
Expression
Ubiquitous expression in placenta (RPKM 1.0), stomach (RPKM 1.0) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC10A7 in Genome Data Viewer
Location:
4q31.22
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (146253981..146521940, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (149569961..149845644, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (147175133..147443092, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15739 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:147143236-147144435 Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147162227-147163143 Neighboring gene Sharpr-MPRA regulatory region 13307 Neighboring gene reeler domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21982 Neighboring gene uncharacterized LOC105377472 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:147250043-147251242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21986 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147271442-147272028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21988 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147289228-147289729 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147302440-147303022 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147320049-147320582 Neighboring gene microRNA 7849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21997 Neighboring gene RNA, U1 small nuclear 44, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147554253-147554753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147558399-147558980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147558981-147559562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147559563-147560143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147560144-147560725 Neighboring gene POU class 4 homeobox 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation. Durin Z, et al. Hum Genet, 2022 Jul. PMID 34999954
  2. The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling. Karakus E, et al. Sci Rep, 2020 Apr 29. PMID 32350310, Free PMC Article
  3. Molecular cloning and characterization of a novel human C4orf13 gene, tentatively a member of the sodium bile acid cotransporter family. Zou X, et al. Biochem Genet, 2005 Apr. PMID 15932064
  4. Biological activity in the repopulating rat spermatocyte after the withdrawal of gossypol treatment. V. Inhibition and recovery of microtubular dynein. Teng CS. Contraception, 1995 May. PMID 7628207
  5. Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis. Li C, et al. J Cell Physiol, 2021 Aug. PMID 33561315

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
    Title: Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
  2. SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
    Title: SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
  3. Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis.
    Title: Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis.
  4. The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
    Title: The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
  5. Mutation in SLC10A7 gene is associated with anxiety defective bone mineralization.
    Title: Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
  6. SLC10A7 is involved in glycosaminoglycan synthesis and specifically in skeletal development. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta.
    Title: SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
  8. Molecular characterization and expression analysis of a novel member of the SLC10 family, SLC10A7, previously known as C4orf13, is reported
    Title: Molecular and phylogenetic characterization of a novel putative membrane transporter (SLC10A7), conserved in vertebrates and bacteria.
  9. cloning and characterization; mapped to chromosome 4q31.2 and contains 12 exons; widely expressed in human tissues
    Title: Molecular cloning and characterization of a novel human C4orf13 gene, tentatively a member of the sodium bile acid cotransporter family.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MedGen: C5193055 OMIM: 618363 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
EBI GWAS Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables bile acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Golgi vesicle transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in bile acid and bile salt transport IEA
Inferred from Electronic Annotation
more info
  
involved_in bone development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycoprotein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heparin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi medial cisterna IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cis-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sodium/bile acid cotransporter 7
Names
Na(+)/bile acid cotransporter 7
SBF-domain containing protein
solute carrier family 10 (sodium/bile acid cotransporter family), member 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001029998.6 → NP_001025169.1  sodium/bile acid cotransporter 7 isoform b

    See identical proteins and their annotated locations for NP_001025169.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes isoform b.
    Source sequence(s)
    AC093863, BC150308
    Consensus CDS
    CCDS34073.1
    UniProtKB/Swiss-Prot
    A7E2E6, A7MAX9, Q0GE19, Q0VAP9, Q45NG1, Q45NG2, Q5H9S6, Q6P4E6, Q8IZ62, Q8NBP8, Q9H0M9
    UniProtKB/TrEMBL
    A8K4T1
    Related
    ENSP00000334594.8, ENST00000335472.12
    Conserved Domains (1) summary
    pfam13593
    Location:10 → 320
    SBF_like; SBF-like CPA transporter family (DUF4137)

  2. NM_001300842.3 → NP_001287771.1  sodium/bile acid cotransporter 7 isoform d

    See identical proteins and their annotated locations for NP_001287771.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region, compared to variant 2. The encoded isoform (d) has a longer and distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AC093863, BC150308, DA590625, DQ871036
    Consensus CDS
    CCDS75198.1
    UniProtKB/TrEMBL
    A8K4T1
    Related
    ENSP00000421275.1, ENST00000507030.5
    Conserved Domains (1) summary
    pfam13593
    Location:10 → 320
    SBF_like; SBF-like CPA transporter family (DUF4137)

  3. NM_001317816.2 → NP_001304745.1  sodium/bile acid cotransporter 7 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in the central coding region, compared to variant 2. The encoded isoform (e) has the same N- and C-termini, but is shorter than isoform b.
    Source sequence(s)
    AC093863, BC150308, CR933647
    Consensus CDS
    CCDS82963.1
    UniProtKB/TrEMBL
    A8K4T1
    Related
    ENSP00000411297.2, ENST00000432059.6
    Conserved Domains (1) summary
    pfam13593
    Location:10 → 307
    SBF_like; SBF-like CPA transporter family (DUF4137)

  4. NM_001317817.2 → NP_001304746.1  sodium/bile acid cotransporter 7 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks many exons and its 3'-terminal exon extends past a splice site that is used in variant 2. The encoded isoform (f) has a significantly shorter and distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AC106879, AL136728, BC120971, DB205503
    Consensus CDS
    CCDS82962.1
    UniProtKB/Swiss-Prot
    Q0GE19
    Related
    ENSP00000421603.1, ENST00000511374.5
    Conserved Domains (1) summary
    cl19217
    Location:10 → 75
    SBF; Sodium Bile acid symporter family

  5. NM_001317818.2 → NP_001304747.1  sodium/bile acid cotransporter 7 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks many exons and its 3'-terminal exon extends past a splice site that is used in variant 2. The encoded isoform (g) has a significantly shorter and distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AC106879, BC023288, DA590625
    Consensus CDS
    CCDS82964.1
    UniProtKB/Swiss-Prot
    Q0GE19
    Related
    ENSP00000422577.1, ENST00000502607.1
    Conserved Domains (1) summary
    cl19217
    Location:10 → 63
    SBF; Sodium Bile acid symporter family

  6. NM_032128.5 → NP_115504.1  sodium/bile acid cotransporter 7 isoform c

    See identical proteins and their annotated locations for NP_115504.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 2. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AC106879, AL136728, BC127626, DB205503
    Consensus CDS
    CCDS3768.1
    UniProtKB/Swiss-Prot
    Q0GE19
    Related
    ENSP00000377623.4, ENST00000394059.8
    Conserved Domains (1) summary
    cl19217
    Location:10 → 145
    SBF; Sodium Bile acid symporter family

RNA

  1. NR_133924.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks two consecutive alternate internal exons, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093863, BC150308, DA590625, DQ122861

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    146253981..146521940 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532311.3 → XP_011530613.1  sodium/bile acid cotransporter 7 isoform X1

    See identical proteins and their annotated locations for XP_011530613.1

    UniProtKB/TrEMBL
    A8K4T1
    Conserved Domains (1) summary
    pfam13593
    Location:10 → 307
    SBF_like; SBF-like CPA transporter family (DUF4137)

  2. XM_011532313.3 → XP_011530615.1  sodium/bile acid cotransporter 7 isoform X2

    Conserved Domains (1) summary
    cl19217
    Location:1 → 207
    SBF; Sodium Bile acid symporter family

  3. XM_047416248.1 → XP_047272204.1  sodium/bile acid cotransporter 7 isoform X3

  4. XM_017008692.2 → XP_016864181.1  sodium/bile acid cotransporter 7 isoform X7

    UniProtKB/Swiss-Prot
    Q0GE19
    Conserved Domains (1) summary
    cl19217
    Location:10 → 75
    SBF; Sodium Bile acid symporter family

  5. XM_047416249.1 → XP_047272205.1  sodium/bile acid cotransporter 7 isoform X7

  6. XM_017008690.3 → XP_016864179.1  sodium/bile acid cotransporter 7 isoform X5

    Related
    ENST00000685433.1

  7. XM_017008691.3 → XP_016864180.1  sodium/bile acid cotransporter 7 isoform X6

  8. XM_017008689.2 → XP_016864178.1  sodium/bile acid cotransporter 7 isoform X4

RNA

  1. XR_007057973.1 RNA Sequence

  2. XR_001741332.3 RNA Sequence

  3. XR_938780.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    149569961..149845644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350972.1 → XP_054206947.1  sodium/bile acid cotransporter 7 isoform X1

  2. XM_054350973.1 → XP_054206948.1  sodium/bile acid cotransporter 7 isoform X2

  3. XM_054350974.1 → XP_054206949.1  sodium/bile acid cotransporter 7 isoform X3

  4. XM_054350981.1 → XP_054206956.1  sodium/bile acid cotransporter 7 isoform X7

  5. XM_054350978.1 → XP_054206953.1  sodium/bile acid cotransporter 7 isoform X9

  6. XM_054350976.1 → XP_054206951.1  sodium/bile acid cotransporter 7 isoform X8

  7. XM_054350980.1 → XP_054206955.1  sodium/bile acid cotransporter 7 isoform X7

  8. XM_054350977.1 → XP_054206952.1  sodium/bile acid cotransporter 7 isoform X5

  9. XM_054350979.1 → XP_054206954.1  sodium/bile acid cotransporter 7 isoform X6

  10. XM_054350975.1 → XP_054206950.1  sodium/bile acid cotransporter 7 isoform X4

RNA

  1. XR_008487044.1 RNA Sequence

  2. XR_008487043.1 RNA Sequence

  3. XR_008487042.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001030316.1: Suppressed sequence

    Description
    NM_001030316.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q0GE19.2 GenPept UniProtKB/Swiss-Prot:Q0GE19

Gene LinkOut

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