• Gene id: 9526

Gene Summary

• Gene Symbol: MPDU1   Gene   UCSC   Ensembl
• Aliases: CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, SLC66A5
• Gene name: mannose-P-dolichol utilization defect 1
• Alternate names: mannose-P-dolichol utilization defect 1 protein, HBeAg-binding protein 2 binding protein A, suppressor of Lec15 and Lec35 glycosylation mutation homolog,
• Gene location: 17p13.1 (7583646: 7588211)     Exons: 7     NC_000017.11
• Gene summary(Entrez): This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in cong
• OMIM: 109535

Protein Summary

• Protein general information: O75352  
  • Name: Mannose P dolichol utilization defect 1 protein (Suppressor of Lec15 and Lec35 glycosylation mutation homolog) (SL15)
  • Length: 247  
  • Mass: 26638
• Sequence:

  MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLS
  LQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTP
  LTVVTLLQASNVPAVVVGRLLQAATNYHNGHTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNG
  LIAAQLLFYWNAKPPHKQKKAQ

• Structural information:
  • Protein Domains: (39..10-)
    (/note="PQ-loop-1)
    (159..21-)
    (/note="PQ-loop-2")
  • Interpro: IPR016817  IPR006603  
  • STRING: ENSP00000250124
• Other Databases: GeneCards:  MPDU1  Malacards:  MPDU1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009312	oligosaccharide biosynthetic process	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0009312	oligosaccharide biosynthetic process	IDA	biological process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	biological process
GO:0009312	oligosaccharide biosynthetic process	IGI	biological process
GO:0006457	protein folding	NAS	biological process
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray