Human Gene GORAB (ENST00000367763.8) from GENCODE V44
Description: Homo sapiens golgin, RAB6 interacting (GORAB), transcript variant 2, non-coding RNA. (from RefSeq NR_027397) RefSeq Summary (NM_152281): This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. Gencode Transcript: ENST00000367763.8 Gencode Gene: ENSG00000120370.14 Transcript (Including UTRs) Position: hg38 chr1:170,532,166-170,553,834 Size: 21,669 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr1:170,532,224-170,552,462 Size: 20,239 Coding Exon Count: 5
ID:GORAB_HUMAN DESCRIPTION: RecName: Full=RAB6-interacting golgin; AltName: Full=N-terminal kinase-like-binding protein 1; Short=NTKL-BP1; Short=NTKL-binding protein 1; Short=hNTKL-BP1; AltName: Full=SCY1-like 1-binding protein 1; Short=SCYL1-BP1; Short=SCYL1-binding protein 1; SUBUNIT: Interacts with SCYL1 (By similarity). Interacts with RCHY1 and RAB6A/RAB6. SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus. DISEASE: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. SIMILARITY: Belongs to the GORAB family. CAUTION: It is uncertain whether Met-1 or Met-26 is the initiator.
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 Q5T7V8
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
US Server
