• Gene id: 11079

Gene Summary

• Gene Symbol: RER1   Gene   UCSC   Ensembl
• Gene name: retention in endoplasmic reticulum sorting receptor 1
• Alternate names: protein RER1, RER1 retention in endoplasmic reticulum 1 homolog,
• Gene location: 1p36.32 (2391840: 2405435)     Exons: 7     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golg
• OMIM: 0

SNPs

rs1129332

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

Protein Summary

• Protein general information: O15258  
  • Name: Protein RER1
  • Length: 196  
  • Mass: 22958
• Sequence:

  MSEGDSVGESVHGKPSVVYRFFTRLGQIYQSWLDKSTPYTAVRWVVTLGLSFVYMIRVYLLQGWYIVTYALGIYH
  LNLFIAFLSPKVDPSLMEDSDDGPSLPTKQNEEFRPFIRRLPEFKFWHAATKGILVAMVCTFFDAFNVPVFWPIL
  VMYFIMLFCITMKRQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS

• Structural information:
  • Interpro: IPR004932  
  • STRING: ENSP00000475168
• Other Databases: GeneCards:  RER1  Malacards:  RER1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0006621	protein retention in ER lumen	IBA	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033130	acetylcholine receptor binding	IEA	molecular function
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq