RETREG1 (reticulophagy regulator 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54463
Gene name Gene Name - the full gene name approved by the HGNC.
Reticulophagy regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RETREG1
Synonyms (NCBI Gene) Gene synonyms aliases
FAM134B, JK-1, JK1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613114 25964 ENSG00000154153
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease rs137852737, rs137852736, rs137852738, rs137852739 N/A
Hereditary sensory and autonomic neuropathy Neuropathy, hereditary sensory and autonomic, type 2B rs137852737, rs137852736, rs137852738, rs137852739 N/A
Hereditary Sensory And Autonomic Neuropathy hereditary sensory and autonomic neuropathy type 2 rs137852739, rs137852737, rs137852736, rs137852738 N/A
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease 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