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SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 [ Homo sapiens (human) ]

Gene ID: 6584, updated on 23-May-2015
Official Symbol
SLC22A5provided by HGNC
Official Full Name
solute carrier family 22 (organic cation/carnitine transporter), member 5provided by HGNC
Primary source
HGNC:HGNC:10969
See related
Ensembl:ENSG00000197375; HPRD:04539; MIM:603377; Vega:OTTHUMG00000059634
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
CDSP; OCTN2
Summary
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Orthologs
See SLC22A5 in MapViewer
Location:
5q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (132369704..132395614)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131705396..131731306)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 (organic cation/zwitterion transporter), member 4 Neighboring gene uncharacterized LOC553103 Neighboring gene microRNA 3936 Neighboring gene uncharacterized LOC102723741 Neighboring gene chromosome 5 open reading frame 56 Neighboring gene uncharacterized LOC105379175

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Renal carnitine transport defect Compare labs

NHGRI GWAS Catalog

Description
A large-scale, consortium-based genomewide association study of asthma.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ46769

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
antibiotic transporter activity IEA
Inferred from Electronic Annotation
more info
 
carnitine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
carnitine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
drug transmembrane transporter activity IC
Inferred by Curator
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
quaternary ammonium group transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
antibiotic transport IEA
Inferred from Electronic Annotation
more info
 
carnitine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carnitine transport IDA
Inferred from Direct Assay
more info
PubMed 
carnitine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
drug transmembrane transport IC
Inferred by Curator
more info
PubMed 
drug transport IC
Inferred by Curator
more info
PubMed 
positive regulation of intestinal epithelial structure maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
quaternary ammonium group transport IDA
Inferred from Direct Assay
more info
PubMed 
quorum sensing involved in interaction with host IMP
Inferred from Mutant Phenotype
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
sodium-dependent organic cation transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IC
Inferred by Curator
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
solute carrier family 22 member 5
Names
solute carrier family 22 member 5
high-affinity sodium dependent carnitine cotransporter
organic cation/carnitine transporter 2

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_008982.1 RefSeqGene

    Range
    5001..30906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308122.1NP_001295051.1  solute carrier family 22 member 5 isoform a

    See identical proteins and their annotated locations for NP_001295051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as OCTN2VT) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB291606, AK128610, BM693015, DA567722
    Consensus CDS
    CCDS78058.1
  2. NM_003060.3NP_003051.1  solute carrier family 22 member 5 isoform b

    See identical proteins and their annotated locations for NP_003051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AF057164, AK128610, BC012325, DA186237, DA567722
    Consensus CDS
    CCDS4154.1
    UniProtKB/Swiss-Prot
    O76082
    Related
    ENSP00000245407, OTTHUMP00000065961, ENST00000245407, OTTHUMT00000132631
    Conserved Domains (2) summary
    cd06174
    Location:123510
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00898
    Location:12520
    organic_anion_transporter; cation transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    132369704..132395614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272055.2XP_005272112.1  

    UniProtKB/Swiss-Prot
    O76082
    Conserved Domains (2) summary
    cd06174
    Location:162534
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00898
    Location:12544
    organic_anion_transporter; cation transport protein
  2. XM_011543590.1XP_011541892.1  

    Conserved Domains (1) summary
    cd06174
    Location:132304
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

RNA

  1. XR_948290.1 RNA Sequence

  2. XR_427718.1 RNA Sequence

  3. XR_948291.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    131138142..131164051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)