• Gene id: 130752

Gene Summary

• Gene Symbol: MDH1B   Gene   UCSC   Ensembl
• Aliases: RP11-95H11
• Gene name: malate dehydrogenase 1B
• Alternate names: putative malate dehydrogenase 1B, malate dehydrogenase 1B, NAD (soluble),
• Gene location: 2q33.3 (206765543: 206737762)     Exons: 13     NC_000002.12
• OMIM: 0

Protein Summary

• Protein general information: Q5I0G3  
  • Name: Putative malate dehydrogenase 1B (EC 1.1.1. )
  • Length: 518  
  • Mass: 58651
• Sequence:

  MAKFVIAGRADCPYYAKTELVADYLQKNLPDFRIHKITQRPEVWEDWLKDVCEKNKWSHKNSPIIWRELLDRGGK
  GLLLGGYNEFLEHAQLYYDVTSSMTTELMMVIAQENLGAHIEKEQEEEALKTCINPLQVWITSASAPACYNLIPI
  LTSGEVFGMHTEISITLFDNKQAEEHLKSLVVETQDLASPVLRSVSICTKVEEAFRQAHVIVVLDDSTNKEVFTL
  EDCLRSRVPLCRLYGYLIEKNAHESVRVIVGGRTFVNLKTVLLMRYAPRIAHNIIAVALGVEGEAKAILARKLKT
  APSYIKDVIIWGNISGNNYVDLRKTRVYRYESAIWGPLHYSRPVLNLIFDSEWVKREFVAILKNLTTTGRQFGGI
  LAAHSIATTLKYWYHGSPPGEIVSLGILSEGQFGIPKGIVFSMPVKFENGTWVVLTDLKDVEISEQIMTRMTSDL
  IQEKLVALGDKIHFQPYQSGHKDLVPDEEKNLAMSDAAEFPNQIPQTTFEKPQSLEFLNEFEGKTVES

• Structural information:
  • Interpro: IPR015955  IPR010945  IPR036291  
  • STRING: ENSP00000363533
• Other Databases: GeneCards:  MDH1B  Malacards:  MDH1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006108	malate metabolic process	IBA	biological process
GO:0006107	oxaloacetate metabolic process	IBA	biological process
GO:0030060	L-malate dehydrogenase activity	IBA	molecular function
GO:0006734	NADH metabolic process	IBA	biological process
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016615	malate dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006108	malate metabolic process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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