Seroatlas · Human Serome Atlas

SORD

Sorbitol dehydrogenase

Also known as: DHSO_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q00796
Gene: SORD
Ensembl: ENSG00000140263
Chromosome: 15
Canonical length: 357 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Cytosol,Acrosome,Equatorial segment
Quaternary structure: Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

357 residues, UniProt reviewed canonical sequence.

>Q00796|SORD
     1  MAAAAKPNNL SLVVHGPGDL RLENYPIPEP GPNEVLLRMH SVGICGSDVH YWEYGRIGNF
    61  IVKKPMVLGH EASGTVEKVG SSVKHLKPGD RVAIEPGAPR ENDEFCKMGR YNLSPSIFFC
   121  ATPPDDGNLC RFYKHNAAFC YKLPDNVTFE EGALIEPLSV GIHACRRGGV TLGHKVLVCG
   181  AGPIGMVTLL VAKAMGAAQV VVTDLSATRL SKAKEIGADL VLQISKESPQ EIARKVEGQL
   241  GCKPEVTIEC TGAEASIQAG IYATRSGGNL VLVGLGSEMT TVPLLHAAIR EVDIKGVFRY
   301  CNTWPVAISM LASKSVNVKP LVTHRFPLEK ALEAFETFKK GLGLKIMLKC DPSDQNP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SORD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 253 nTPM

Expression across tissuesHPA

Tissue

liver: 253 nTPM
cervix: 161 nTPM
thyroid gland: 100 nTPM
prostate: 85 nTPM
kidney: 56 nTPM
breast: 53 nTPM

Single-cell type

conjunctival goblet cells: 892 nCPM
hepatocytes: 435 nCPM
prostatic glandular cells: 273 nCPM
salivary duct cells: 168 nCPM
proximal tubule cells: 140 nCPM
gastric progenitor cells: 81 nCPM

Immune cell

basophil: 88 nTPM
eosinophil: 63 nTPM
naive B-cell: 7 nTPM
memory B-cell: 5.7 nTPM
neutrophil: 3.4 nTPM
T-reg: 2.4 nTPM

Brain region

cerebral cortex: 23 nTPM
cerebellum: 21 nTPM
white matter: 18 nTPM
hippocampal formation: 16 nTPM
amygdala: 15 nTPM
medulla oblongata: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SORD.

Disease | AllUniProt

Conditions SORD is implicated in, by any mechanism.

Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) MIM:618912

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 147 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neuronopathy, distal hereditary motor, autosomal recessive 8
Inborn genetic diseases
Idiopathic environmental intolerance
Neuromuscular disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.27
gnomAD pLI: 0
gnomAD missense Z: -0.35
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

D-glucuronate catabolic process to D-xylulose 5-phosphate
flagellated sperm motility
fructose biosynthetic process
glucose metabolic process
sorbitol catabolic process
xylitol catabolic process
xylitol metabolic process

Molecular functions

carbohydrate binding
identical protein binding
NAD binding
zinc ion binding
(R,R)-butanediol dehydrogenase activity
D-xylulose reductase activity
L-iditol 2-dehydrogenase (NAD+) activity
ribitol 2-dehydrogenase (NAD+) activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SORD as an antibody target. Whether an autoantibody or antibody against SORD could matter depends on whether native SORD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SORD is annotated as secreted, so native SORD circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label SORD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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