PLEKHG5
entrez
57449
canonical
uniprot
O94827
canonical
ensembl
ENSG00000171680
resolver
ensp
ENSP00000344570
resolver
ensp
ENSP00000366954
resolver
ensp
ENSP00000366957
resolver
ensp
ENSP00000366969
resolver
ensp
ENSP00000383704
resolver
ensp
ENSP00000383706
resolver
ensp
ENSP00000439625
resolver
ensp
ENSP00000441445
resolver
enst
ENST00000535355
resolver
genesymbol
PLEKHG5
resolver
genesymbol_syn
KIAA0720
resolver
hgnc
HGNC:29105
resolver
uniprot
A0A804EMX3
resolver
uniprot
B3KU07
resolver
uniprot
B7Z2M3
resolver
uniprot
B7Z5X2
resolver
uniprot
F5GZ21
resolver
uniprot
F5H1I0
resolver
uniprot
Q5SY17
resolver
uniprot
Q5T8W5
resolver
uniprot
Q5T8W9
resolver
uniprot
Q6ZNM0
resolver
uniprot
Q7Z436
resolver
uniprot
Q86YD8
resolver
uniprot
Q96BS1
resolver
uniprot_entry
A0A804EMX3_HUMAN
resolver
uniprot_entry
PKHG5_HUMAN
resolver
uniprot_sec
B3KU07
resolver
uniprot_sec
B7Z2M3
resolver
uniprot_sec
B7Z5X2
resolver
uniprot_sec
F5GZ21
resolver
uniprot_sec
F5H1I0
resolver
uniprot_sec
Q5SY17
resolver
uniprot_sec
Q5T8W5
resolver
uniprot_sec
Q5T8W9
resolver
uniprot_sec
Q6ZNM0
resolver
uniprot_sec
Q7Z436
resolver
uniprot_sec
Q86YD8
resolver
uniprot_sec
Q96BS1
resolver
amino_acid_sequence
MHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTLTASEV
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal recessive 4 (HMNR4) [MIM:611067]: A form of distal hereditary motor neuronopathy, 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. HMNR4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. {ECO:0000269|PubMed:17564964}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC) [MIM:615376]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:23777631, ECO:0000269|PubMed:23844677}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Also affects the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631). {ECO:0000250|UniProtKB:Q66T02, ECO:0000269|PubMed:11704860, ECO:0000269|PubMed:23777631}.
uniprot
proteins
mass_dalton
111231
uniprot
proteins
pubmed
11704860
uniprot
proteins
pubmed
12761501
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16467373
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17564964
uniprot
proteins
pubmed
23777631
uniprot
proteins
pubmed
23844677
uniprot
proteins
pubmed
28847484
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1006
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q66T02}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q66T02}. Cell membrane {ECO:0000250|UniProtKB:Q66T02}. Cell junction {ECO:0000250|UniProtKB:Q66T02}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q66T02}. Note=Predominantly cytoplasmic, however when endothelial cells are stimulated with lysophosphatidic acid, PLEKHG5 is found in perinuclear regions and at the cell membrane. Localizes at cell-cell junctions in quiescent endothelial cells, and relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells. {ECO:0000250|UniProtKB:Q66T02}.
uniprot
proteins