• Gene id: 92840

Gene Summary

• Gene Symbol: REEP6   Gene   UCSC   Ensembl
• Aliases: C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB2L1, Yip2f
• Gene name: receptor accessory protein 6
• Alternate names: receptor expression-enhancing protein 6, deleted in polyposis 1-like 1, polyposis locus protein 1-like 1,
• Gene location: 19p13.3 (1491180: 1497926)     Exons: 13     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper deve
• OMIM: 609346

Protein Summary

• Protein general information: Q96HR9  
  • Name: Receptor expression enhancing protein 6 (Polyposis locus protein 1 like 1)
  • Length: 211  
  • Mass: 23418
  • Tissue specificity: Expressed in circumvallate papillae and testis (PubMed
• Sequence:

  MDGLRQRVEHFLEQRNLVTEVLGALEAKTGVEKRYLAAGAVTLLSLYLLFGYGASLLCNLIGFVYPAYASIKAIE
  SPSKDDDTVWLTYWVVYALFGLAEFFSDLLLSWFPFYYVGKCAFLLFCMAPRPWNGALMLYQRVVRPLFLRHHGA
  VDRIMNDLSGRALDAAAGITRNVLQVLARSRAGITPVAVAGPSTPLEADLKPSQTPQPKDK

• Structural information:
  • Interpro: IPR004345  
• Other Databases: GeneCards:  REEP6  Malacards:  REEP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0071786	endoplasmic reticulum tubular network organization	IBA	biological process
GO:0071782	endoplasmic reticulum tubular network	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0050908	detection of light stimulus involved in visual perception	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
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: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: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:0045177	apical part of cell	IEA	cellular component
GO:0044317	rod spherule	IEA	cellular component
GO:0032386	regulation of intracellular transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray