• Gene id: 65055

Gene Summary

• Gene Symbol: REEP1   Gene   UCSC   Ensembl
• Aliases: C2orf23, HMN5B, SPG31, Yip2a
• Gene name: receptor accessory protein 1
• Alternate names: receptor expression-enhancing protein 1, spastic paraplegia 31 protein,
• Gene location: 2p11.2 (86338082: 86213992)     Exons: 13     NC_000002.12
• Gene summary(Entrez): This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in
• OMIM: 609139

Protein Summary

• Protein general information: Q9H902  
  • Name: Receptor expression enhancing protein 1 (Spastic paraplegia 31 protein)
  • Length: 201  
  • Mass: 22255
  • Tissue specificity: Expressed in circumvallate papillae and testis. {ECO
• Sequence:

  MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAW
  LLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRS
  FSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA

• Structural information:
  • Interpro: IPR004345  
  • STRING: ENSP00000438346
• Other Databases: GeneCards:  REEP1  Malacards:  REEP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031849	olfactory receptor binding	IMP	molecular function
GO:0051205	protein insertion into membrane	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0008017	microtubule binding	IBA	molecular function
GO:0071782	endoplasmic reticulum tubular network	IBA	cellular component
GO:0071786	endoplasmic reticulum tubular network organization	IBA	biological process
GO:0005881	cytoplasmic microtubule	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0031849	olfactory receptor binding	IBA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0071782	endoplasmic reticulum tubular network	ISS	cellular component
GO:0071786	endoplasmic reticulum tubular network organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	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: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:0071782	endoplasmic reticulum tubular network	IEA	cellular component
GO:0032386	regulation of intracellular transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Distal hereditary motor neuropathies	KEGG:H00856
Hereditary spastic paraplegia	KEGG:H00266
Distal hereditary motor neuropathies	KEGG:H00856
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq