• Gene id: 54463

Gene Summary

• Gene Symbol: RETREG1   Gene   UCSC   Ensembl
• Aliases: FAM134B, JK-1, JK1
• Gene name: reticulophagy regulator 1
• Alternate names: reticulophagy regulator 1, family with sequence similarity 134 member B, protein FAM134B, reticulophagy receptor 1, reticulophagy receptor FAM134B,
• Gene location: 5p15.1 (87094477: 87191467)     Exons: 22     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type II
• OMIM: 613114

Protein Summary

• Protein general information: Q9H6L5  
  • Name: Reticulophagy regulator 1 (Reticulophagy receptor 1)
  • Length: 497  
  • Mass: 54681
  • Tissue specificity: Overexpressed in esophageal squamous cell carcinoma (PubMed
• Sequence:

  MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTWLLGEP
  VLWLGCRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSL
  SESWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYLLLL
  CAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDSELDFSALCPKISLTVAAKE
  LSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTNDEDELSLGLPTELKR
  KKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAAPIPEEDTDTE
  EGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH

• Structural information:
  • Interpro: IPR033358  
  • DIP: 61577
  • STRING: ENSP00000304642
• Other Databases: GeneCards:  RETREG1  Malacards:  RETREG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0061709	reticulophagy	IBA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IBA	biological process
GO:0005801	cis-Golgi network	ISS	cellular component
GO:0019233	sensory perception of pain	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0061709	reticulophagy	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0061709	reticulophagy	IEA	biological process
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0061709	reticulophagy	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray