• Gene id: 6652

Gene Summary

• Gene Symbol: SORD   Gene   UCSC   Ensembl
• Aliases: HEL-S-95n, RDH, SDH, SORD1, XDH
• Gene name: sorbitol dehydrogenase
• Alternate names: sorbitol dehydrogenase, (R,R)-butanediol dehydrogenase, L-iditol 2-dehydrogenase, epididymis secretory sperm binding protein Li 95n, polyol dehydrogenase, ribitol dehydrogenase, xylitol dehydrogenase,
• Gene location: 15q21.1 (45023194: 45077184)     Exons: 9     NC_000015.10
• Gene summary(Entrez): 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 de
• OMIM: 182500

Protein Summary

• Protein general information: Q00796  
  • Name: Sorbitol dehydrogenase (SDH) (EC 1.1.1. ) ((R,R) butanediol dehydrogenase) (EC 1.1.1.4) (L iditol 2 dehydrogenase) (EC 1.1.1.14) (Polyol dehydrogenase) (Ribitol dehydrogenase) (RDH) (EC 1.1.1.56) (Xylitol dehydrogenase) (XDH) (EC 1.1.1.9)
  • Length: 357  
  • Mass: 38325
  • Tissue specificity: Expressed in liver (PubMed
• Sequence:

  MAAAAKPNNLSLVVHGPGDLRLENYPIPEPGPNEVLLRMHSVGICGSDVHYWEYGRIGNFIVKKPMVLGHEASGT
  VEKVGSSVKHLKPGDRVAIEPGAPRENDEFCKMGRYNLSPSIFFCATPPDDGNLCRFYKHNAAFCYKLPDNVTFE
  EGALIEPLSVGIHACRRGGVTLGHKVLVCGAGPIGMVTLLVAKAMGAAQVVVTDLSATRLSKAKEIGADLVLQIS
  KESPQEIARKVEGQLGCKPEVTIECTGAEASIQAGIYATRSGGNLVLVGLGSEMTTVPLLHAAIREVDIKGVFRY
  CNTWPVAISMLASKSVNVKPLVTHRFPLEKALEAFETFKKGLGLKIMLKCDPSDQNP

• Structural information:
  • Interpro: IPR013149  IPR013154  IPR002328  IPR011032  IPR036291   IPR020843  
  • Prosite: PS00059
  • PDB: 1PL6 1PL7 1PL8
  • PDBsum: 1PL6 1PL7 1PL8
  • STRING: ENSP00000267814
• Other Databases: GeneCards:  SORD  Malacards:  SORD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003939	L-iditol 2-dehydrogenase activity	IBA	molecular function
GO:0006062	sorbitol catabolic process	IBA	biological process
GO:0030317	flagellated sperm motility	ISS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000721	(R,R)-butanediol dehydrogenase activity	IEA	molecular function
GO:0046526	D-xylulose reductase activity	IEA	molecular function
GO:0003939	L-iditol 2-dehydrogenase activity	IEA	molecular function
GO:0050255	ribitol 2-dehydrogenase activity	IEA	molecular function
GO:0019640	glucuronate catabolic process to xylulose 5-phosphate	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0046370	fructose biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0006060	sorbitol metabolic process	IEA	biological process
GO:0046686	response to cadmium ion	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003939	L-iditol 2-dehydrogenase activity	IEA	molecular function
GO:0046688	response to copper ion	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0006970	response to osmotic stress	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0046370	fructose biosynthetic process	IDA	biological process
GO:0046370	fructose biosynthetic process	IDA	biological process
GO:0046370	fructose biosynthetic process	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0051287	NAD binding	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0003939	L-iditol 2-dehydrogenase activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0051164	L-xylitol metabolic process	IDA	biological process
GO:0051160	L-xylitol catabolic process	IDA	biological process
GO:0006062	sorbitol catabolic process	IDA	biological process
GO:0006062	sorbitol catabolic process	IDA	biological process
GO:0006062	sorbitol catabolic process	IDA	biological process
GO:0006062	sorbitol catabolic process	IDA	biological process
GO:0003939	L-iditol 2-dehydrogenase activity	IDA	molecular function
GO:0003939	L-iditol 2-dehydrogenase activity	IDA	molecular function
GO:0031514	motile cilium	ISS	cellular component
GO:0030317	flagellated sperm motility	NAS	biological process
GO:0030246	carbohydrate binding	NAS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0006006	glucose metabolic process	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003939	L-iditol 2-dehydrogenase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00040	Pentose and glucuronate interconversions
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq