RETREG1 (reticulophagy regulator 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 54463
Gene name Reticulophagy regulator 1
Gene symbol RETREG1
Synonyms (NCBI Gene)
FAM134BJK-1JK1
Chromosome 5
Chromosome location 5p15.1
Summary 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
SNPs SNP information provided by dbSNP.
8
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs137852737 G>A Pathogenic, uncertain-significance Stop gained, coding sequence variant, genic upstream transcript variant
rs137852738 A>G Pathogenic, uncertain-significance Splice donor variant
rs137852739 G>A,C Pathogenic-likely-pathogenic, pathogenic, uncertain-significance Stop gained, coding sequence variant, missense variant
rs143878016 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Coding sequence variant, missense variant
rs767329180 C>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IEA
GO:0005515 Function Protein binding IPI 26040720, 32296183, 32814053, 34524948
GO:0005730 Component Nucleolus IDA
GO:0005783 Component Endoplasmic reticulum IDA 35239449
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613114 25964 ENSG00000154153
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6L5
Protein name Reticulophagy regulator 1 (Reticulophagy receptor 1)
Protein function Endoplasmic reticulum (ER)-anchored autophagy regulator which mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720, PubMed:31930741, PubMed:34338405). Promotes membrane remodeling and ER scission via its
PDB 7BRQ , 7FB5
Family and domains
Tissue specificity TISSUE SPECIFICITY: Overexpressed in esophageal squamous cell carcinoma (PubMed:17487424). {ECO:0000269|PubMed:17487424}.
Sequence 
MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEA
AGRAAAAVTWLLGEPVLWLGCRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLI
SVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVINSKPDERPRLSHCIAESWMNFSI
FLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQ
KIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDSELDFSALCPKISLTVAAKE
LSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTN
DEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAA
VTAAIKDQLEGVQQALSQAAPIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEA
QQNKKSSGFLSNLLGGH
Sequence length 497
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
126
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Pathogenic rs137852739, rs137852737, rs137852736, rs137852738 RCV000789098
RCV000789751
RCV000789750
RCV000789099
Hereditary sensory and autonomic neuropathy type 2 Pathogenic rs137852739, rs137852737, rs137852736, rs137852738 RCV003447062
RCV003447063
RCV003447085
RCV003447086
Neuropathy, hereditary sensory and autonomic, type 2B Pathogenic; Likely pathogenic rs137852739, rs137852737, rs751185980, rs2477809311, rs2477809965, rs137852736, rs137852738, rs1741988534 RCV000000356
RCV000000358
RCV003120332
RCV003316887
RCV003331882
RCV001843420
RCV001843421
RCV001169985
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs141215735 RCV005916485
Cervical cancer Benign rs141215735 RCV005916486
Cholangiocarcinoma Benign rs141215735 RCV005916488
Colon adenocarcinoma Benign; Likely benign rs78314670 RCV005900827
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28754978
Carcinoma Hepatocellular Inhibit 37460952
Colorectal Neoplasms Associate 28144752, 32857678
Colorectal Neoplasms Inhibit 28549913
Esophageal Neoplasms Associate 27373372
Esophageal Squamous Cell Carcinoma Associate 27373372
Hereditary Sensory and Autonomic Neuropathies Associate 21115472, 21820098, 31475481, 31930741, 35332675
Intervertebral Disc Degeneration Associate 34394825
Kidney Diseases Associate 35332675
Microsatellite Instability Associate 28144752