• Gene id: 6184

Gene Summary

• Gene Symbol: RPN1   Gene   UCSC   Ensembl
• Aliases: OST1, RBPH1
• Gene name: ribophorin I
• Alternate names: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1, RPN-I, dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit, oligosaccharyltransferase 1 homolog, oligosaccharyltransferase complex subunit (non-catalytic), ribop,
• Gene location: 3q21.3 (128650817: 128619968)     Exons: 10     NC_000003.12
• Gene summary(Entrez): This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-S
• OMIM: 180470

Protein Summary

• Protein general information: P04843  
  • Name: Dolichyl diphosphooligosaccharide protein glycosyltransferase subunit 1 (Dolichyl diphosphooligosaccharide protein glycosyltransferase 67 kDa subunit) (Ribophorin I) (RPN I) (Ribophorin 1)
  • Length: 607  
  • Mass: 68569
  • Tissue specificity: Expressed in all tissues tested. {ECO
• Sequence:

  MEAPAAGLFLLLLLGTWAPAPGSASSEAPPLINEDVKRTVDLSSHLAKVTAEVVLAHLGGGSTSRATSFLLALEP
  ELEARLAHLGVQVKGEDEEENNLEVRETKIKGKSGRFFTVKLPVALDPGAKISVIVETVYTHVLHPYPTQITQSE
  KQFVVFEGNHYFYSPYPTKTQTMRVKLASRNVESYTKLGNPTRSEDLLDYGPFRDVPAYSQDTFKVHYENNSPFL
  TITSMTRVIEVSHWGNIAVEENVDLKHTGAVLKGPFSRYDYQRQPDSGISSIRSFKTILPAAAQDVYYRDEIGNV
  STSHLLILDDSVEMEIRPRFPLFGGWKTHYIVGYNLPSYEYLYNLGDQYALKMRFVDHVFDEQVIDSLTVKIILP
  EGAKNIEIDSPYEISRAPDELHYTYLDTFGRPVIVAYKKNLVEQHIQDIVVHYTFNKVLMLQEPLLVVAAFYILF
  FTVIIYVRLDFSITKDPAAEARMKVACITEQVLTLVNKRIGLYRHFDETVNRYKQSRDISTLNSGKKSLETEHKA
  LTSEIALLQSRLKTEGSDLCDRVSEMQKLDAQVKELVLKSAVEAERLVAGKLKKDTYIENEKLISGKRQELVTKI
  DHILDAL

• Structural information:
  • Interpro: IPR007676  
  • PDB: 6S7O 6S7T
  • PDBsum: 6S7O 6S7T
  • DIP: 38152
  • STRING: ENSP00000296255
• Other Databases: GeneCards:  RPN1  Malacards:  RPN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004579	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	TAS	contributes to
GO:0008250	oligosaccharyltransferase complex	TAS	cellular component
GO:0018279	protein N-linked glycosylation via asparagine	TAS	biological process
GO:0008250	oligosaccharyltransferase complex	IBA	cellular component
GO:0018279	protein N-linked glycosylation via asparagine	IBA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006464	cellular protein modification process	TAS	biological process
GO:0018279	protein N-linked glycosylation via asparagine	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0006487	protein N-linked glycosylation	IDA	biological process
GO:0008250	oligosaccharyltransferase complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005791	rough endoplasmic reticulum	ISS	cellular component
GO:0018279	protein N-linked glycosylation via asparagine	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04141	Protein processing in endoplasmic reticulum
hsa00510	N-Glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray