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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]
SORD (Sorbitol Dehydrogenase) is a Protein Coding gene. Diseases associated with SORD include Diabetic Neuropathy and Squamous Cell Papilloma. Among its related pathways are Porphyrin and chlorophyll metabolism and Fructose and mannose metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ADH1C.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH15J045022 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 606.6 | +0.4 | 354 | 2.2 | HNRNPL IKZF1 NFKBIZ ZNF7 RBFOX2 POLR2A PATZ1 IKZF2 CTCF ZNF501 | SORD HMGN2P46 piR-33222 DUOX2 | |
GH15J045021 | Enhancer | 0.4 | ENCODE | 651.2 | -1.6 | -1649 | 0.1 | JUN RCOR1 GTF2F1 JUND | SORD piR-49156-010 TERB2 | |
GH15J045023 | Promoter | 0.3 | Ensembl | 651.2 | -1.0 | -1046 | 0.2 | SORD piR-49156-010 TERB2 | ||
GH15J045047 | Promoter/Enhancer | 1.5 | FANTOM5 Ensembl ENCODE | 31.4 | +25.8 | 25782 | 2.6 | RFX1 LEF1 IKZF1 JUND MTA2 PKNOX1 ZNF24 MTA1 IKZF2 DPF2 | ENSG00000252171 SORD CTDSPL2 SPG11 SPATA5L1 ENSG00000259563 B2M LOC100422669 ENSG00000259418 DUOX2 | |
GH15J044979 | Enhancer | 0.8 | Ensembl | 48.8 | -43.4 | -43446 | 1 | GATAD2A RCOR2 PHF21A CEBPA SOX13 TCF7 FOXA2 TEAD1 KDM6A CREM | SORD DUOX1 DUOXA1 RNU6-966P RF00026-355 piR-32214-211 TERB2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000721 | (R,R)-butanediol dehydrogenase activity | IEA | -- |
GO:0003939 | L-iditol 2-dehydrogenase activity | ISS | -- |
GO:0008270 | zinc ion binding | ISS | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0030246 | carbohydrate binding | NAS | 12962626 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | TAS | 6177277 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005929 | cilium | IEA | -- |
GO:0016020 | membrane | IEA,IDA | 8487505 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Fructose metabolism |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Porphyrin and chlorophyll metabolism | ||
4 | Fructose and mannose metabolism | ||
5 | Glycosaminoglycan metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006006 | glucose metabolic process | TAS | 14965227 |
GO:0006060 | sorbitol metabolic process | IEA | -- |
GO:0006062 | sorbitol catabolic process | IDA | 3365415 |
GO:0006970 | response to osmotic stress | IEA | -- |
GO:0009725 | response to hormone | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Isopropyl alcohol | Approved, Investigational | Pharma | 0 | |||
Propyl alcohol | Approved, Experimental | Pharma | 0 | |||
Sorbitol | Approved | Pharma | 66 | |||
Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-Pyrimidine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1-Hexanol |
|
111-27-3 |
|
|||
1-Pentanol |
|
71-41-0 |
|
|||
Hydrogen Ion |
|
|
||||
Isobutanol |
|
78-83-1 |
|
|||
L-Iditol |
|
488-45-9 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SORD 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | SORD 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SORD 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sord 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sord 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SORD 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SORD 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sord 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4026 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sord 31 |
|
OneToOne | |
LOC570613 30 |
|
||||
zgc63674 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sodh-1 30 31 32 |
|
OneToMany | |
Sodh-2 31 32 |
|
OneToMany | |||
CG4836 31 32 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003584 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_R04B5.5 30 |
|
||
R04B5.5 31 32 |
|
OneToMany | |||
R04B5.6 31 32 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR229C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SOR1 30 31 |
|
OneToMany | |
SOR2 31 |
|
OneToMany | |||
XYL2 31 33 |
|
OneToMany | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D05511g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G51970 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0545200 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00891 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tms1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.15386 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
768706 | Benign: not provided | 45,068,982(+) | A/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
768707 | Benign: not provided | 45,073,526(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
776886 | Benign: not provided | 45,065,349(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs1042079 | - | p.Gln239Leu | |||
rs930337 | - | p.Asn269Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1411e59 | CNV | duplication | 20981092 |
dgv2590n100 | CNV | gain | 25217958 |
dgv435n67 | CNV | gain | 20364138 |
esv27178 | CNV | gain | 19812545 |
esv2760029 | CNV | gain+loss | 17122850 |
esv28190 | CNV | loss | 19812545 |
esv3552387 | CNV | deletion | 23714750 |
esv3581683 | CNV | loss | 25503493 |
esv3636330 | CNV | loss | 21293372 |
nsv1075903 | CNV | duplication | 25765185 |
nsv1519 | CNV | insertion | 18451855 |
nsv436698 | OTHER | inversion | 17901297 |
nsv509570 | CNV | insertion | 20534489 |
nsv569311 | CNV | gain | 21841781 |
nsv7264 | OTHER | inversion | 18451855 |
nsv820141 | CNV | gain | 19587683 |
nsv827318 | CNV | gain | 20364138 |
nsv9259 | CNV | gain | 18304495 |
nsv9260 | CNV | loss | 18304495 |
nsv9261 | CNV | loss | 18304495 |
nsv977710 | CNV | duplication | 23825009 |
nsv977711 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diabetic neuropathy |
|
|
squamous cell papilloma |
|
|
hyperglycemia |
|
|
fructosuria, essential |
|
|
transient refractive change |
|
|