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SORD Gene(Protein Coding)

Sorbitol Dehydrogenase

GCID:
GC15P045023
GIFtS:
55
Genes Participants
UDN Logo

Aliases for SORD Gene

Aliases for SORD Gene

  • Sorbitol Dehydrogenase 2 3 5
  • L-Iditol 2-Dehydrogenase 3 4
  • EC 1.1.1.14 4 56
  • Epididymis Secretory Sperm Binding Protein Li 95n 3
  • HEL-S-95n 3
  • EC 1.1.1 56
  • SORD1 3

External Ids for SORD Gene

Previous GeneCards Identifiers for SORD Gene

  • GC15P040873
  • GC15P038362
  • GC15P042894
  • GC15P043031
  • GC15P043102
  • GC15P045315
  • GC15P022139

Summaries for SORD Gene

Entrez Gene Summary for SORD 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]

GeneCards Summary for SORD Gene

SORD (Sorbitol Dehydrogenase) is a Protein Coding gene. Diseases associated with SORD include Cataract and Microvascular Complications Of Diabetes 5. Among its related pathways are Glycosaminoglycan metabolism and Fructose metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and transferase activity, transferring acyl groups other than amino-acyl groups.

UniProtKB/Swiss-Prot for SORD Gene

  • Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm.

Gene Wiki entry for SORD Gene

Additional gene information for SORD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORD Gene

Genomics for SORD Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SORD Gene

Promoters and enhancers for SORD Gene
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
GH15I045022 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.8 +0.3 314 2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 POLR2B SP3 RXRA MXD4 SORD HMGN2P46 GC15M045029 PIR54221
GH15I045021 Enhancer 0.4 ENCODE 601.3 -1.6 -1606 0.1 JUND JUN RCOR1 SORD GC15M045003 RNU1-78P
GH15I045047 Enhancer 1.5 FANTOM5 Ensembl ENCODE 31.4 +25.8 25825 2.6 PKNOX1 SMAD1 ATF1 ARNT ZNF280A TCF12 ZNF766 GATA2 ATF7 NCOA1 ENSG00000252171 GC15M045048 SORD SPG11 SPATA5L1 CTDSPL2 ENSG00000259563 B2M LOC100422669 ENSG00000259418
GH15I045036 Enhancer 1.1 Ensembl ENCODE 20 +14.1 14096 0.8 FOXA2 MLX ARID4B ZNF2 SLC30A9 ARID2 ZNF207 ZNF143 ATF7 RXRA SORD RNU6-966P DUOX2 SORD2P GC15M045029 PIR54221 GC15M045048 ENSG00000252171
GH15I044853 Enhancer 1.2 Ensembl ENCODE dbSUPER 18 -169.5 -169463 0.7 YBX3 ELF3 FOXA2 RB1 ARID4B ZNF2 RAD21 RARA CHAMP1 ARID2 LOC105370798 SORD SQOR ENSG00000238845 SORD2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SORD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SORD gene promoter:

Genomic Locations for SORD Gene

Genomic Locations for SORD Gene
chr15:45,023,104-45,077,185
(GRCh38/hg38)
Size:
54,082 bases
Orientation:
Plus strand
chr15:45,315,302-45,369,383
(GRCh37/hg19)

Genomic View for SORD Gene

Genes around SORD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORD Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SORD Gene

Proteins for SORD Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SORD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00796-DHSO_HUMAN
    Recommended name:
    Sorbitol dehydrogenase
    Protein Accession:
    Q00796
    Secondary Accessions:
    • B2R655
    • B7Z3A6
    • J3JZZ5
    • Q16682
    • Q9UMD6

    Protein attributes for SORD Gene

    Size:
    357 amino acids
    Molecular mass:
    38325 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • The polyol pathway is proposed to be involved the cellular toxicity of diabetic hyperglycemia.

    Three dimensional structures from OCA and Proteopedia for SORD Gene

    Alternative splice isoforms for SORD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SORD Gene

Protein Expression for SORD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for SORD Gene

Q00796:
  • VVVTDLS
  • MHSVGICGSDVHYW
  • FEEGALIEPLSV
  • FCYKLPD
  • REVDIKGVFRYCNTWP
  • RLENYPIPE
  • PMVLGHE

Post-translational modifications for SORD Gene

  • Ubiquitination at posLast=107107 and isoforms=134
  • Modification sites at PhosphoSitePlus

Other Protein References for SORD Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SORD Gene

Gene Families for SORD Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SORD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SORD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q00796

UniProtKB/Swiss-Prot:

DHSO_HUMAN :
  • Belongs to the zinc-containing alcohol dehydrogenase family.
Family:
  • Belongs to the zinc-containing alcohol dehydrogenase family.
genes like me logo Genes that share domains with SORD: view

Function for SORD Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SORD Gene

GENATLAS Biochemistry:
sorbitol dehydrogenase,including two homologous genes SORD1,SORD2 resulting of a recent gene duplication event
UniProtKB/Swiss-Prot CatalyticActivity:
L-iditol + NAD(+) = L-sorbose + NADH.
UniProtKB/Swiss-Prot Function:
Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm.
UniProtKB/Swiss-Prot Induction:
Up-regulated by androgens and down-regulated by castration.

Enzyme Numbers (IUBMB) for SORD Gene

Phenotypes From GWAS Catalog for SORD Gene

Gene Ontology (GO) - Molecular Function for SORD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003939 L-iditol 2-dehydrogenase activity ISS --
GO:0008270 zinc ion binding ISS,IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0030246 carbohydrate binding NAS 12962626
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with SORD: view
genes like me logo Genes that share phenotypes with SORD: view

Animal Model Products

miRNA for SORD Gene

miRTarBase miRNAs that target SORD

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SORD Gene

Localization for SORD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORD Gene

Mitochondrion membrane; Peripheral membrane protein. Cell projection, cilium, flagellum. Note=Associated with mitochondria of the midpiece and near the plasma membrane in the principal piece of the flagellum. Also found in the epididymosome, secreted by the epididymal epithelium and that transfers proteins from the epididymal fluid to the sperm surface. {ECO:0000250 UniProtKB:Q64442}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SORD gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
nucleus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SORD Gene

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 IDA,IEA 8487505
genes like me logo Genes that share ontologies with SORD: view

Pathways & Interactions for SORD Gene

genes like me logo Genes that share pathways with SORD: view

Gene Ontology (GO) - Biological Process for SORD Gene

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 --
genes like me logo Genes that share ontologies with SORD: view

No data available for SIGNOR curated interactions for SORD Gene

Drugs & Compounds for SORD Gene

Products:

  1. Drug

(26) Drugs for SORD Gene - From: DrugBank, HMDB, and Novoseek

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 41
Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-Pyrimidine Experimental Pharma Target 0

(21) Additional Compounds for SORD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
 111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
 71-41-0
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
 53188-23-1
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl propanol
  • 2-Methyl-1-propanol
  • 2-Methyl-1-propanyl alcohol
  • 2-Methylpropan-1-ol
 78-83-1
genes like me logo Genes that share compounds with SORD: view

Transcripts for SORD Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SORD Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(478) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SORD Gene

Sorbitol dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SORD Gene

No ASD Table

Relevant External Links for SORD Gene

GeneLoc Exon Structure for
SORD
ECgene alternative splicing isoforms for
SORD

Expression for SORD Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SORD Gene

mRNA expression in normal human tissues for SORD Gene
mRNA expression by BioGPS for SORD GenemRNA expression by GTEx for SORD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SORD Gene

This gene is overexpressed in Liver (x10.1), Prostate (x8.9), and Thyroid (x7.1).

Protein differential expression in normal tissues from HIPED for SORD Gene

This gene is overexpressed in Liver, secretome (18.7), Liver (10.7), Thyroid (8.0), and Nasal epithelium (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SORD Gene



Protein tissue co-expression partners for SORD Gene

NURSA nuclear receptor signaling pathways regulating expression of SORD Gene:

SORD

SOURCE GeneReport for Unigene cluster for SORD Gene:

Hs.878

mRNA Expression by UniProt/SwissProt for SORD Gene:

Q00796-DHSO_HUMAN
Tissue specificity: Expressed in kidney and epithelial cells of both benign and malignant prostate tissue. Expressed in epididymis (at protein level).

Evidence on tissue expression from TISSUES for SORD Gene

  • Liver(4.8)
  • Nervous system(4.8)
  • Blood(4.4)
  • Kidney(3.5)
  • Thyroid gland(2.7)
  • Lung(2.4)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with SORD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SORD Gene

Orthologs for SORD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SORD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SORD 33 34
  • 99.07 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 91 (a)
 OneToMany
-- 34
  • 86 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia SORD 33 34
  • 88.54 (n)
dog
(Canis familiaris)
 Mammalia SORD 33 34
  • 86.95 (n)
rat
(Rattus norvegicus)
 Mammalia Sord 33
  • 82.63 (n)
mouse
(Mus musculus)
 Mammalia Sord 33 16 34
  • 81.51 (n)
oppossum
(Monodelphis domestica)
 Mammalia SORD 34
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SORD 33 34
  • 74.58 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 74 (a)
 OneToMany
-- 34
  • 72 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia sord 33
  • 72.49 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.4026 33
zebrafish
(Danio rerio)
 Actinopterygii sord 34
  • 76 (a)
 OneToOne
LOC570613 33
  • 69.24 (n)
zgc63674 33
fruit fly
(Drosophila melanogaster)
 Insecta Sodh-1 35 33 34
  • 60.17 (n)
Sodh-2 35 34
  • 55 (a)
CG4836 35 34
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003584 33
  • 58.45 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_R04B5.5 33
  • 54.13 (n)
R04B5.5 35 34
  • 53 (a)
R04B5.6 35 34
  • 50 (a)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ABR229C 33
  • 50.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SOR1 33 34
  • 49 (n)
SOR2 34
  • 41 (a)
 OneToMany
XYL2 34 36
  • 40 (a)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D05511g 33
  • 48.51 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G51970 33
  • 52.79 (n)
rice
(Oryza sativa)
 Liliopsida Os08g0545200 33
  • 50.43 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU00891 33
  • 51.81 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes tms1 33
  • 47.36 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 47 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.15386 33
Species where no ortholog for SORD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SORD Gene

ENSEMBL:
Gene Tree for SORD (if available)
TreeFam:
Gene Tree for SORD (if available)

Paralogs for SORD Gene

(2) SIMAP similar genes for SORD Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SORD Gene

genes like me logo Genes that share paralogs with SORD: view

No data available for Paralogs for SORD Gene

Variants for SORD Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SORD Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000046875 -- 45,051,510(+) T/A intron_variant
rs1000194613 -- 45,069,480(+) G/A/C intron_variant
rs1000245290 -- 45,068,467(+) G/T intron_variant
rs1000305219 -- 45,033,916(+) G/T intron_variant
rs1000363957 -- 45,046,349(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SORD Gene

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

Variation tolerance for SORD Gene

Residual Variation Intolerance Score: 75.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.17; 87.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SORD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SORD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORD Gene

Disorders for SORD Gene

MalaCards: The human disease database

(2) MalaCards diseases for SORD Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract
  • cataracts
microvascular complications of diabetes 5
  • microvascular complications of diabetes, susceptibility to, 5
- elite association - COSMIC cancer census association via MalaCards
Search SORD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SORD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SORD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SORD Gene

Publications for SORD Gene

  1. Structural organization of the human sorbitol dehydrogenase gene (SORD). (PMID: 7782086) Iwata T … Carper D (Genomics 1995) 2 3 4 22 58
  2. Sorbitol dehydrogenase expression is regulated by androgens in the human prostate. (PMID: 20372835) Szabó Z … Vaarala MH (Oncology reports 2010) 3 4 22 58
  3. ZAC1 is up-regulated by hypertonicity and decreases sorbitol dehydrogenase expression, allowing accumulation of sorbitol in kidney cells. (PMID: 19423711) Lanaspa MA … Berl T (The Journal of biological chemistry 2009) 3 4 22 58
  4. Polyol pathway in human epididymis and semen. (PMID: 16278369) Frenette G … Sullivan R (Journal of andrology 2006) 3 4 22 58
  5. X-ray crystallographic and kinetic studies of human sorbitol dehydrogenase. (PMID: 12962626) Pauly TA … Rath VL (Structure (London, England : 1993) 2003) 3 4 22 58

Products for SORD Gene

Sources for SORD Gene

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