SORD sorbitol dehydrogenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SORDprovided by HGNC
Official Full Name: sorbitol dehydrogenaseprovided by HGNC
Primary source: HGNC:HGNC:11184
See related: Ensembl:ENSG00000140263 MIM:182500; AllianceGenome:HGNC:11184
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: RDH; SDH; XDH; HMNR8; SORD1; SORDD; 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: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (45023195..45077185)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (42831215..42885202)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45315393..45369383)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.
Title: Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.
Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
Title: Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Title: Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Title: Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Title: Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
ALR2 rs759853 and SDH rs2055858 polymorphisms were respectively associated with a higher and lower risk of diabetic retinopathy.
Title: Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese.
SDH gene expression was increased by hypoxia and oxidative stress, but not extracellular hyperosmolarity. Hyperosmolarity and hypoxia did not alter the SDH protein level.
Title: Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5.
One of the most striking changes involved sorbitol dehydrogenase, a key enzyme in the polyol pathway. Validation studies revealed dramatically increased sorbitol dehydrogenase concentrations and activity in adenomas and cancer cell lines, along with important changes in the expression of other enzymes in the same (AKR1B1) and related (KHK) pathways.
Title: Sorbitol dehydrogenase overexpression and other aspects of dysregulated protein expression in human precancerous colorectal neoplasms: a quantitative proteomics study.
The SDH level was significantly decreased in patients with proliferative compared with non-proliferative retinopathy in both insulin and oral diabetic groups.
Title: Aldo-keto reductase and sorbitol dehydrogenase enzymes in Egyptian diabetic patients with and without proliferative diabetic retinopathy.
Thus, our findings suggest that the -888G > C polymorphism in the SORD gene is not involved in the pathogenesis of diabtic retinopathy in type 2 diabetes.
Title: Association study of sorbitol dehydrogenase -888G>C polymorphism with type 2 diabetic retinopathy in Caucasian-Brazilians.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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
Neuronopathy, distal hereditary motor, autosomal recessive 8 MedGen: C5394466 OMIM: 618912 GeneReviews: Not available	Compare labs

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

RH68832 (e-PCR)
- UniSTS:5893

D15S1336 (e-PCR)
- UniSTS:5915

G15968 (e-PCR)
- UniSTS:80281

RH79584 (e-PCR)
- UniSTS:83645

SORD_8637 (e-PCR)
- UniSTS:467906

SHGC-17227 (e-PCR)
- UniSTS:26324

STS-N22765 (e-PCR)
- UniSTS:62685

D15S800 (e-PCR)
- UniSTS:151796

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (R,R)-butanediol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables D-sorbitol dehydrogenase (acceptor) activity	IEA Inferred from Electronic Annotation more info
enables D-xylulose reductase activity	IEA Inferred from Electronic Annotation more info
enables L-iditol 2-dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-iditol 2-dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables L-iditol 2-dehydrogenase (NAD+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-iditol 2-dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables NAD binding	IDA Inferred from Direct Assay more info	PubMed
enables carbohydrate binding	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribitol 2-dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in D-glucuronate catabolic process to D-xylulose 5-phosphate	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in flagellated sperm motility	NAS Non-traceable Author Statement more info	PubMed
involved_in fructose biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in sorbitol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sorbitol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sorbitol catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xylitol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xylitol metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sorbitol dehydrogenase

Names: (R,R)-butanediol dehydrogenase; L-iditol 2-dehydrogenase; epididymis secretory sperm binding protein Li 95n; polyol dehydrogenase; ribitol dehydrogenase; xylitol dehydrogenase

NP_003095.2

EC 1.1.1.14

EC 1.1.1.4

EC 1.1.1.56

EC 1.1.1.9

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)

NM_003104.6 → NP_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

B2R655, B7Z3A6, J3JZZ5, Q00796, Q16682, Q9UMD6

UniProtKB/TrEMBL

V9HW89

Related

ENSP00000267814.9, ENST00000267814.14

Conserved Domains (1) summary

cd05285
Location:11 → 350

sorbitol_DH; Sorbitol dehydrogenase

RNA

NR_034039.2 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

Related

ENST00000674405.1