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SLC13A1 solute carrier family 13 member 1 [ Homo sapiens (human) ]

Gene ID: 6561, updated on 2-Oct-2018

Summary

Official Symbol
SLC13A1provided by HGNC
Official Full Name
solute carrier family 13 member 1provided by HGNC
Primary source
HGNC:HGNC:10916
See related
Ensembl:ENSG00000081800 MIM:606193; Vega:OTTHUMG00000157087
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAS1; NaSi-1
Summary
The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
Expression
Biased expression in kidney (RPKM 26.2), small intestine (RPKM 5.7) and 1 other tissue See more
Orthologs

Genomic context

See SLC13A1 in Genome Data Viewer
Location:
7q31.32
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (123113490..123201836, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (122753588..122840025, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375482 Neighboring gene taste 2 receptor member 16 Neighboring gene LYPLA1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 296, pseudogene Neighboring gene IQ motif and ubiquitin domain containing

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
citrate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:dicarboxylate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:sulfate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:sulfate symporter activity TAS
Traceable Author Statement
more info
 
succinate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
citrate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
succinate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sulfate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sulfate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 13 member 1
Names
Na(+)/sulfate cotransporter
renal sodium/sulfate cotransporter
solute carrier family 13 (sodium/sulfate symporters), member 1
solute carrier family 13 (sodium/sulphate symporters), member 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_050641.1 RefSeqGene

    Range
    5005..91442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001324400.1NP_001311329.1  solute carrier family 13 member 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC073054, AC091319, AF260824, AK026413, BC111775
    UniProtKB/Swiss-Prot
    Q9BZW2
    UniProtKB/TrEMBL
    Q2NKK0
    Conserved Domains (1) summary
    cl21473
    Location:118453
    ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...
  2. NM_022444.3NP_071889.2  solute carrier family 13 member 1 isoform 1

    See identical proteins and their annotated locations for NP_071889.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF260824, AI209074, AI469201, AK026413
    Consensus CDS
    CCDS5786.1
    UniProtKB/Swiss-Prot
    Q9BZW2
    UniProtKB/TrEMBL
    A4D0X1
    Related
    ENSP00000194130.2, OTTHUMP00000211446, ENST00000194130.6, OTTHUMT00000347404
    Conserved Domains (2) summary
    COG0471
    Location:48577
    CitT; Di- and tricarboxylate transporter [Carbohydrate transport and metabolism]
    cd01115
    Location:41569
    SLC13_permease; Permease SLC13 (solute carrier 13). The sodium/dicarboxylate cotransporter NaDC-1 has been shown to translocate Krebs cycle intermediates such as succinate, citrate, and alpha-ketoglutarate across plasma membranes rabbit, human, and rat kidney. It is ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    123113490..123201836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012554.1XP_016868043.1  solute carrier family 13 member 1 isoform X3

  2. XM_011516516.3XP_011514818.1  solute carrier family 13 member 1 isoform X2

    Conserved Domains (2) summary
    COG0471
    Location:48599
    CitT; Di- and tricarboxylate transporter [Carbohydrate transport and metabolism]
    cd01115
    Location:41591
    SLC13_permease; Permease SLC13 (solute carrier 13). The sodium/dicarboxylate cotransporter NaDC-1 has been shown to translocate Krebs cycle intermediates such as succinate, citrate, and alpha-ketoglutarate across plasma membranes rabbit, human, and rat kidney. It is ...
  3. XM_011516515.3XP_011514817.1  solute carrier family 13 member 1 isoform X1

    Conserved Domains (2) summary
    COG0471
    Location:48633
    CitT; Di- and tricarboxylate transporter [Carbohydrate transport and metabolism]
    cd01115
    Location:41625
    SLC13_permease; Permease SLC13 (solute carrier 13). The sodium/dicarboxylate cotransporter NaDC-1 has been shown to translocate Krebs cycle intermediates such as succinate, citrate, and alpha-ketoglutarate across plasma membranes rabbit, human, and rat kidney. It is ...
  4. XM_011516517.2XP_011514819.1  solute carrier family 13 member 1 isoform X4

    Conserved Domains (2) summary
    COG0471
    Location:7569
    CitT; Di- and tricarboxylate transporter [Carbohydrate transport and metabolism]
    cl21473
    Location:1561
    ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...
  5. XM_024446885.1XP_024302653.1  solute carrier family 13 member 1 isoform X8

    Conserved Domains (1) summary
    cl21473
    Location:118453
    ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...
  6. XM_011516518.3XP_011514820.1  solute carrier family 13 member 1 isoform X6

    Conserved Domains (2) summary
    COG0471
    Location:40158
    CitT; Di- and tricarboxylate transporter [Carbohydrate transport and metabolism]
    cl21473
    Location:41154
    ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...
  7. XM_017012555.2XP_016868044.1  solute carrier family 13 member 1 isoform X5

  8. XM_011516519.3XP_011514821.1  solute carrier family 13 member 1 isoform X7

    Conserved Domains (2) summary
    COG0471
    Location:40158
    CitT; Di- and tricarboxylate transporter [Carbohydrate transport and metabolism]
    cl21473
    Location:41154
    ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...
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