PLEKHM1
entrez
9842
canonical
uniprot
Q9Y4G2
canonical
ensembl
ENSG00000225190
resolver
ensembl
ENSG00000276358
resolver
ensembl
ENSG00000277111
resolver
ensp
ENSP00000389913
resolver
ensp
ENSP00000394344
resolver
ensp
ENSP00000479066
resolver
ensp
ENSP00000483820
resolver
ensp
ENSP00000514814
resolver
ensp
ENSP00000628706
resolver
enst
ENST00000430334
resolver
enst
ENST00000446609
resolver
enst
ENST00000613787
resolver
enst
ENST00000617688
resolver
enst
ENST00000700125
resolver
enst
ENST00000958647
resolver
genesymbol
PLEKHM1
resolver
genesymbol_syn
KIAA0356
resolver
hgnc
HGNC:29017
resolver
uniprot
A0A8V8TPW0
resolver
uniprot
Q6P2R5
resolver
uniprot
Q8TEL9
resolver
uniprot
Q9NPP5
resolver
uniprot
Q9NYA0
resolver
uniprot_entry
A0A8V8TPW0_HUMAN
resolver
uniprot_entry
PKHM1_HUMAN
resolver
uniprot_sec
Q6P2R5
resolver
uniprot_sec
Q8TEL9
resolver
uniprot_sec
Q9NPP5
resolver
uniprot_sec
Q9NYA0
resolver
amino_acid_sequence
MLSVVENGLDPQAAIPVIKKKLVGSVKALQKQYVSLDTVVTSEDGDANTMCSALEAVFIHGLHAKHIRAEAGGKRKKSAHQKPLPQPVFWPLLKAVTHKHIISELEHLTFVNTDVGRCRAWLRLALNDGLMECYLKLLLQEQARLHEYYQPTALLRDAEEGEFLLSFLQGLTSLSFELSYKSAILNEWTLTPLALSGLCPLSELDPLSTSGAELQRKESLDSISHSSGSEDIEVHHSGHKIRRNQKLTASSLSLDTASSSQLSCSLNSDSCLLQENGSKSPDHCEEPMSCDSDLGTANAEDSDRSLQEVLLEFSKAQVNSVPTNGLSQETEIPTPQASLSLHGLNTSTYLHCEAPAEPLPAQAASGTQDGVHVQEPRPQAPSPLDLQQPVESTSGQQPSSTVSETAREVGQGNGLQKAQAHDGAGLKLVVSSPTSPKNKSWISEDDFYRPSREQPLESASDHPIASYRGTPGSRPGLHRHFSQEPRKNCSLGALDQACVPSPGRRQAQAAPSQGHKSFRVVHRRQMGLSNPFRGLMKLGTVERRGAMGIWKELFCELSPLEFRLYLSNEEHTCVENCSLLRCESVGPAHSDGRFELVFSGKKLALRASSQDEAEDWLDRVREALQKVRPQQEDEWVNVQYPDQPEEPPEAPQGCLSPSDLLSEPAALQGTQFDWSSAQVPEPDAIKESLLYLYMDRTWMPYIFSLSLEALKCFRIRNNEKMLSDSHGVETIRDILPDTSLGGPSFFKIITAKAVLKLQAGNAEEAALWRDLVRKVLASYLETAEEAVTLGGSLDENCQEVLKFATRENGFLLQYLVAIPMEKGLDSQGCFCAGCSRQIGFSFVRPKLCAFSGLYYCDICHQDDASVIPARIIHNWDLTKRPICRQALKFLTQIRAQPLINLQMVNASLYEHVERMHLIGRRREQLKLLGDYLGLCRSGALKELSKRLNHRNYLLESPHRFSVADLQQIADGVYEGFLKALIEFASQHVYHCDLCTQRGFICQICQHHDIIFPFEFDTTVRCAECKTVFHQSCQAVVKKGCPRCARRRKYQEQNIFA
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 6 (OPTB6) [MIM:611497]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269|PubMed:17404618}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteopetrosis, autosomal dominant 3 (OPTA3) [MIM:618107]: A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia. {ECO:0000269|PubMed:17997709, ECO:0000269|PubMed:27291868}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Acts as a dual effector of RAB7A and ARL8B that simultaneously binds these GTPases, bringing about clustering and fusion of late endosomes and lysosomes (PubMed:25498145, PubMed:28325809). Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Interaction with Arl8b is a crucial factor in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). {ECO:0000250|UniProtKB:Q5PQS0, ECO:0000250|UniProtKB:Q7TSI1, ECO:0000269|PubMed:12820725, ECO:0000269|PubMed:20943950, ECO:0000269|PubMed:25498145, ECO:0000269|PubMed:28325809}.; FUNCTION: (Microbial infection) In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7. {ECO:0000269|PubMed:25500191}.
uniprot
proteins
mass_dalton
117443
uniprot
proteins
mutagenesis
MUTAGEN 60; /note="H->A: Strongly reduces interaction with ARL8B. No effect on interaction with RAB7A. No effect on late endosome and lysosome clustering. Loss of interaction with ARL8B as well as late endosome and lysosome clustering; when associated with 119-A--A-123."; /evidence="ECO:0000269|PubMed:28325809"; MUTAGEN 63; /note="H->A: No effect on interaction with ARL8B. No effect on interaction with RAB7A."; /evidence="ECO:0000269|PubMed:28325809"; MUTAGEN 119..123; /note="RAWLR->AAWLA: Reduces interaction with ARL8B. No effect on interaction with RAB7A. Loss of interaction with ARL8B as well as late endosome and lysosome clustering; when associated with A-60."; /evidence="ECO:0000269|PubMed:28325809"; MUTAGEN 720..722; /note="Missing: Disrupts interaction with RAB7A."; /evidence="ECO:0000269|PubMed:25500191"; MUTAGEN 729; /note="E->A: Disrupts interaction with RAB7A."; /evidence="ECO:0000269|PubMed:25500191"; MUTAGEN 769; /note="R->A: Disrupts interaction with RAB7A."; /evidence="ECO:0000269|PubMed:25500191"; MUTAGEN 1021; /note="C->G: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1024, L-1029 and G-1032."; /evidence="ECO:0000269|PubMed:20943950"; MUTAGEN 1024; /note="C->G: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1021, L-1029 and G-1032."; /evidence="ECO:0000269|PubMed:20943950"; MUTAGEN 1029; /note="H->L: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1021, G-1024 and G-1032."; /evidence="ECO:0000269|PubMed:20943950"; MUTAGEN 1032; /note="C->G: Disrupts interaction with Rab7and no localization to endososmal membranes; when associated with G-1021, G-1024 and L-1029."; /evidence="ECO:0000269|PubMed:20943950
uniprot
proteins
pubmed
12820725
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17404618
uniprot
proteins
pubmed
17997709
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20943950
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25498145
uniprot
proteins
pubmed
25500191
uniprot
proteins
pubmed
27291868
uniprot
proteins
pubmed
28325809
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1056
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Autolysosome membrane {ECO:0000269|PubMed:25498145}. Endosome membrane {ECO:0000269|PubMed:20943950}. Late endosome membrane {ECO:0000269|PubMed:28325809}. Lysosome membrane {ECO:0000269|PubMed:25498145, ECO:0000269|PubMed:25500191, ECO:0000269|PubMed:28325809}. Note=In case of infection colocalizes with Salmonella typhimurium sifA in proximity of Salmonella-containing vacuole (SCV) (PubMed:25500191). {ECO:0000269|PubMed:25498145, ECO:0000269|PubMed:25500191}.
uniprot
proteins