Human Gene RETREG1 (ENST00000399793.6) from GENCODE V44
  Description: Homo sapiens reticulophagy regulator 1 (RETREG1), transcript variant 2, mRNA. (from RefSeq NM_019000)
RefSeq Summary (NM_019000): 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].
Gencode Transcript: ENST00000399793.6
Gencode Gene: ENSG00000154153.15
Transcript (Including UTRs)
   Position: hg38 chr5:16,473,053-16,508,998 Size: 35,946 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr5:16,474,741-16,508,612 Size: 33,872 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:16,473,053-16,508,998)mRNA (may differ from genome)Protein (356 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F134B_HUMAN
DESCRIPTION: RecName: Full=Protein FAM134B;
FUNCTION: Required for long-term survival of nociceptive and autonomic ganglion neurons.
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein (By similarity).
DISEASE: Defects in FAM134B are the cause of hereditary sensory and autonomic neuropathy type 2B (HSAN2B) [MIM:613115]. A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response.
SIMILARITY: Belongs to the FAM134 family.
SEQUENCE CAUTION: Sequence=AAH30517.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA90982.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15252.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RETREG1
Diseases sorted by gene-association score: neuropathy, hereditary sensory and autonomic, type iib* (1000), neuropathy, hereditary sensory and autonomic, type ii* (530), autonomic neuropathy (30), vascular dementia (13), autonomic dysfunction (8), hemophagocytic lymphohistiocytosis, familial, 2 (6), neuropathy (5), insensitivity to pain, congenital (4)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.79 RPKM in Muscle - Skeletal
Total median expression: 349.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.60386-0.318 Picture PostScript Text
3' UTR -370.601688-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003388 - Reticulon

Pfam Domains:
PF02453 - Reticulon

ModBase Predicted Comparative 3D Structure on Q9H6L5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006914 autophagy
GO:0019233 sensory perception of pain
GO:0043524 negative regulation of neuron apoptotic process
GO:0061709 reticulophagy

Cellular Component:
GO:0005730 nucleolus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016604 nuclear body
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  AL832438 - Homo sapiens mRNA; cDNA DKFZp762C144 (from clone DKFZp762C144).
BC053326 - Homo sapiens family with sequence similarity 134, member B, mRNA (cDNA clone MGC:59895 IMAGE:5014868), complete cds.
AK025808 - Homo sapiens cDNA: FLJ22155 fis, clone HRC00205.
BC030517 - Homo sapiens family with sequence similarity 134, member B, mRNA (cDNA clone IMAGE:5165560), complete cds.
AK000159 - Homo sapiens cDNA FLJ20152 fis, clone COL08515.
AK024920 - Homo sapiens cDNA: FLJ21267 fis, clone COL01717.
JD174857 - Sequence 155881 from Patent EP1572962.
JD422292 - Sequence 403316 from Patent EP1572962.
JD551553 - Sequence 532577 from Patent EP1572962.
JD526538 - Sequence 507562 from Patent EP1572962.
JD528047 - Sequence 509071 from Patent EP1572962.
JD215059 - Sequence 196083 from Patent EP1572962.
JD232589 - Sequence 213613 from Patent EP1572962.
JD090957 - Sequence 71981 from Patent EP1572962.
JD561245 - Sequence 542269 from Patent EP1572962.
JD120112 - Sequence 101136 from Patent EP1572962.
JD092995 - Sequence 74019 from Patent EP1572962.
JD026613 - Sequence 7637 from Patent EP1572962.
JD091213 - Sequence 72237 from Patent EP1572962.
JD028361 - Sequence 9385 from Patent EP1572962.
JD025233 - Sequence 6257 from Patent EP1572962.
AK025832 - Homo sapiens cDNA: FLJ22179 fis, clone HRC00920.
AK225371 - Homo sapiens mRNA for hypothetical protein LOC54463 variant, clone: HRC00920.
BC073132 - Homo sapiens family with sequence similarity 134, member B, mRNA (cDNA clone MGC:87806 IMAGE:5760145), complete cds.
BC020603 - Homo sapiens cDNA clone IMAGE:4337948, containing frame-shift errors.
KJ902649 - Synthetic construct Homo sapiens clone ccsbBroadEn_12043 FAM134B gene, encodes complete protein.
HQ447535 - Synthetic construct Homo sapiens clone IMAGE:100070874; CCSB014664_01 family with sequence similarity 134, member B (FAM134B) gene, encodes complete protein.
KJ898984 - Synthetic construct Homo sapiens clone ccsbBroadEn_08378 FAM134B gene, encodes complete protein.
CU687248 - Synthetic construct Homo sapiens gateway clone IMAGE:100022899 5' read FAM134B mRNA.
JD267273 - Sequence 248297 from Patent EP1572962.
JD357485 - Sequence 338509 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000399793.1, ENST00000399793.2, ENST00000399793.3, ENST00000399793.4, ENST00000399793.5, F134B_HUMAN, FAM134B, NM_019000, Q69YN8, Q9H6K6, Q9H6L5, Q9H764, Q9NXM8, uc003jfr.1, uc003jfr.2, uc003jfr.3, uc003jfr.4
UCSC ID: ENST00000399793.6
RefSeq Accession: NM_019000
Protein: Q9H6L5 (aka F134B_HUMAN)
CCDS: CCDS43305.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RETREG1:
hsan2 (Hereditary Sensory and Autonomic Neuropathy Type II)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.