Human Gene PLEKHG5 (ENST00000340850.10) from GENCODE V44
Description: Homo sapiens pleckstrin homology and RhoGEF domain containing G5 (PLEKHG5), transcript variant 4, mRNA. (from RefSeq NM_001042664) RefSeq Summary (NM_001042664): This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. Gencode Transcript: ENST00000340850.10 Gencode Gene: ENSG00000171680.23 Transcript (Including UTRs) Position: hg38 chr1:6,467,122-6,490,594 Size: 23,473 Total Exon Count: 21 Strand: - Coding Region Position: hg38 chr1:6,467,563-6,477,571 Size: 10,009 Coding Exon Count: 20
ID:PKHG5_HUMAN DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family G member 5; Short=PH domain-containing family G member 5; AltName: Full=Guanine nucleotide exchange factor 720; Short=GEF720; FUNCTION: Activates the NF-kappa-B signaling pathway and RHOA. Appears to be involved in the control of neuronal cell differentiation. SUBUNIT: Interacts with GIPC1/synectin and RHOA (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Note=Predominantly cytoplasmic, however when cells are stimulated found in perinuclear regions (By similarity). TISSUE SPECIFICITY: Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma cells (GBM cell lines). DISEASE: Defects in PLEKHG5 are the cause of distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067]. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 PH domain. SEQUENCE CAUTION: Sequence=BAA34440.2; Type=Erroneous initiation; Sequence=BAC77354.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAC85124.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
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 O94827
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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.
Biological Process: GO:0007186 G-protein coupled receptor signaling pathway GO:0035023 regulation of Rho protein signal transduction GO:0035767 endothelial cell chemotaxis GO:0043065 positive regulation of apoptotic process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043542 endothelial cell migration GO:0051056 regulation of small GTPase mediated signal transduction
AK131074 - Homo sapiens mRNA for FLJ00260 protein. AB018263 - Homo sapiens KIAA0720 mRNA for KIAA0720 protein. BC042606 - Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, mRNA (cDNA clone IMAGE:4750645), with apparent retained intron. AK096347 - Homo sapiens cDNA FLJ39028 fis, clone NT2RP7006395, highly similar to Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, transcript variant 1, mRNA. BC036671 - Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, mRNA (cDNA clone IMAGE:4811640). AK128021 - Homo sapiens cDNA FLJ46140 fis, clone TESTI2052799. AK299523 - Homo sapiens cDNA FLJ56148 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, transcript variant 1, mRNA. AK125550 - Homo sapiens cDNA FLJ43562 fis, clone PUAEN2005930. AK091201 - Homo sapiens cDNA FLJ33882 fis, clone CTONG2007175, highly similar to Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, transcript variant 1, mRNA. AB097001 - Homo sapiens mRNA for putative NFkB activating protein, complete cds, clone: 015N. BC015231 - Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, mRNA (cDNA clone MGC:17838 IMAGE:3900065), complete cds. AK024676 - Homo sapiens cDNA: FLJ21023 fis, clone CAE06432. JD100043 - Sequence 81067 from Patent EP1572962. JD157546 - Sequence 138570 from Patent EP1572962. JD474732 - Sequence 455756 from Patent EP1572962. AK301239 - Homo sapiens cDNA FLJ59769 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, transcript variant 1, mRNA. AK294875 - Homo sapiens cDNA FLJ59684 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5, transcript variant 1, mRNA. AB385374 - Synthetic construct DNA, clone: pF1KA0720, Homo sapiens PLEKHG5 gene for pleckstrin homology domain-containing protein, family G member 5 isoform b, complete cds, without stop codon, in Flexi system. KJ902953 - Synthetic construct Homo sapiens clone ccsbBroadEn_12347 PLEKHG5 gene, encodes complete protein.