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SORD sorbitol dehydrogenase [ Homo sapiens (human) ]

Gene ID: 6652, updated on 7-Dec-2018

Summary

Official Symbol
SORDprovided by HGNC
Official Full Name
sorbitol dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:11184
See related
Ensembl:ENSG00000140263 MIM:182500
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
SORD1; HEL-S-95n
Summary
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
Expression
Biased expression in thyroid (RPKM 163.1), liver (RPKM 161.4) and 11 other tissues See more
Orthologs

Genomic context

See SORD in Genome Data Viewer
Location:
15q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (45023104..45075089)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45315302..45367287)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene telomere repeat binding bouquet formation protein 2 Neighboring gene RNA, U6 small nuclear 966, pseudogene Neighboring gene RNA, U1 small nuclear 78, pseudogene Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene Neighboring gene dual oxidase 2 Neighboring gene dual oxidase maturation factor 2 Neighboring gene dual oxidase maturation factor 1

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
D-xylulose reductase activity EXP
Inferred from Experiment
more info
PubMed 
L-iditol 2-dehydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
L-iditol 2-dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
L-iditol 2-dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
NAD binding IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate binding NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
L-xylitol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-xylitol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
flagellated sperm motility NAS
Non-traceable Author Statement
more info
PubMed 
fructose biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
fructose biosynthetic process TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
PubMed 
glucuronate catabolic process to xylulose 5-phosphate TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
response to copper ion IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
response to osmotic stress IEA
Inferred from Electronic Annotation
more info
 
sorbitol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sorbitol dehydrogenase
Names
L-iditol 2-dehydrogenase
epididymis secretory sperm binding protein Li 95n
NP_003095.2

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.

mRNA and Protein(s)

  1. NM_003104.6NP_003095.2  sorbitol dehydrogenase

    See identical proteins and their annotated locations for NP_003095.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AC091117, BC021085, BI258813, DA530494, U07361
    Consensus CDS
    CCDS10116.1
    UniProtKB/Swiss-Prot
    Q00796
    Related
    ENSP00000267814.9, ENST00000267814.13
    Conserved Domains (2) summary
    cd05285
    Location:11350
    sorbitol_DH; Sorbitol dehydrogenase
    PLN02702
    Location:9347
    PLN02702; L-idonate 5-dehydrogenase

RNA

  1. NR_034039.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC091117, AK296574, AK309672, DB031906

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    45023104..45075089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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