Human Gene PLEKHG4 (ENST00000360461.9) from GENCODE V44
Description: Homo sapiens pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4), transcript variant 2, mRNA. (from RefSeq NM_001129727) RefSeq Summary (NM_001129727): The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Gencode Transcript: ENST00000360461.9 Gencode Gene: ENSG00000196155.13 Transcript (Including UTRs) Position: hg38 chr16:67,277,510-67,289,479 Size: 11,970 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chr16:67,280,045-67,288,808 Size: 8,764 Coding Exon Count: 21
ID:PKHG4_HUMAN DESCRIPTION: RecName: Full=Puratrophin-1; AltName: Full=Pleckstrin homology domain-containing family G member 4; Short=PH domain-containing family G member 4; AltName: Full=Purkinje cell atrophy-associated protein 1; FUNCTION: Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi. TISSUE SPECIFICITY: Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 PH domain. CAUTION: Defects in PLEKHG4 were initially thought (PubMed:16001362) to be the cause of spinocerebellar ataxia 16q22- linked. However, it was later shown (PubMed:17611710) that it is not the case. Spinocerebellar ataxia 16q22-linked, also known as spinocerebellar ataxia type 31 (SCA31), is caused by defects in BEAN gene. SEQUENCE CAUTION: Sequence=AAH82974.1; Type=Frameshift; Positions=3; Sequence=BAB15765.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLEKHG4";
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 Q58EX7
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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.
US Server
