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

    Gene ID: 84068, updated on 10-Dec-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 glycoprotein transport; heparin biosynthetic process; and intracellular calcium ion homeostasis. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 1.0), stomach (RPKM 1.0) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (146253981..146521940, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (149569961..149845644, complement)
    RS_2024_09 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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    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
    		not available

    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in bone development IMP
    Inferred from Mutant Phenotype
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 

    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_2024_08

    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

      UniProtKB/TrEMBL
      B3KWW2

    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

      UniProtKB/TrEMBL
      A8K4T1

    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

      UniProtKB/TrEMBL
      B3KWW2

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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