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RETREG1 reticulophagy regulator 1 [ Homo sapiens (human) ]

Gene ID: 54463, updated on 9-Sep-2018

Summary

Official Symbol
RETREG1provided by HGNC
Official Full Name
reticulophagy regulator 1provided by HGNC
Primary source
HGNC:HGNC:25964
See related
Ensembl:ENSG00000154153 MIM:613114; Vega:OTTHUMG00000161788
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JK1; JK-1; FAM134B
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 IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Broad expression in heart (RPKM 29.0), brain (RPKM 19.9) and 20 other tissues See more
Orthologs

Genomic context

See RETREG1 in Genome Data Viewer
Location:
5p15.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (16473038..16617096, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (16472922..16617167, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374663 Neighboring gene zinc finger protein 622 Neighboring gene uncharacterized LOC101929524 Neighboring gene myosin X Neighboring gene RNA, 5S ribosomal pseudogene 179 Neighboring gene ribosomal protein S26 pseudogene 28

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20152, FLJ22155, FLJ22179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
reticulophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of pain IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cis-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
reticulophagy regulator 1
Names
family with sequence similarity 134 member B
protein FAM134B
reticulophagy receptor 1
reticulophagy receptor FAM134B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016644.2 RefSeqGene

    Range
    4952..148972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_363

mRNA and Protein(s)

  1. NM_001034850.2NP_001030022.1  reticulophagy regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_001030022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI261750, AK025808, AL832438, BG722905, CR994722, DA136983
    Consensus CDS
    CCDS43304.1
    UniProtKB/Swiss-Prot
    Q9H6L5
    Related
    ENSP00000304642.9, OTTHUMP00000220738, ENST00000306320.9, OTTHUMT00000366090
    Conserved Domains (2) summary
    pfam02453
    Location:85233
    Reticulon; Reticulon
    cl21460
    Location:323415
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_019000.4NP_061873.2  reticulophagy regulator 1 isoform 2

    See identical proteins and their annotated locations for NP_061873.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC022113, AI261750, AK024920, AL832438
    Consensus CDS
    CCDS43305.1
    UniProtKB/Swiss-Prot
    Q9H6L5
    Related
    ENSP00000382691.2, OTTHUMP00000220739, ENST00000399793.6, OTTHUMT00000366092
    Conserved Domains (1) summary
    cl21460
    Location:182274
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    16473038..16617096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514053.3XP_011512355.1  reticulophagy regulator 1 isoform X1

  2. XM_011514055.3XP_011512357.1  reticulophagy regulator 1 isoform X3

    Conserved Domains (1) summary
    cl21460
    Location:190282
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_024446118.1XP_024301886.1  reticulophagy regulator 1 isoform X4

    Conserved Domains (1) summary
    cl21460
    Location:148240
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. XM_011514054.2XP_011512356.1  reticulophagy regulator 1 isoform X2

  5. XM_024446117.1XP_024301885.1  reticulophagy regulator 1 isoform X4

    Conserved Domains (1) summary
    cl21460
    Location:148240
    HAD_like; Haloacid Dehalogenase-like Hydrolases
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