Human Gene RAB39B (ENST00000369454.4) Description and Page Index
Description: Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA. (from RefSeq NM_171998) RefSeq Summary (NM_171998): This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.93953.1, SRR1803612.57940.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000369454.4/ ENSP00000358466.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gencode Transcript: ENST00000369454.4 Gencode Gene: ENSG00000155961.5 Transcript (Including UTRs) Position: hg38 chrX:155,258,235-155,264,491 Size: 6,257 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chrX:155,260,803-155,264,288 Size: 3,486 Coding Exon Count: 2
ID:RB39B_HUMAN DESCRIPTION: RecName: Full=Ras-related protein Rab-39B; FUNCTION: May be involved in vesicular trafficking. Plays a role in synapse formation (By similarity). SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Golgi apparatus. Note=Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network (By similarity). TISSUE SPECIFICITY: Highly expressed in the brain. DISEASE: Defects in RAB39B are the cause of mental retardation X- linked type 72 (MRX72) [MIM:300271]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
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 Q96DA2
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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.