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
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;
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.
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.