Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 148 (13 Nov 2019)
Sequence version 3 (13 Nov 2007)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Pleckstrin homology domain-containing family M member 1

Gene

PLEKHM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Proposed to act 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. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved 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). 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 (PubMed:25500191).By similarityCurated4 Publications

Miscellaneous

Sialyl-lex is a carcinoma associated antigen.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri986 – 1040Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST55

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAutophagy, Protein transport, Transport
LigandMetal-binding, Zinc

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pleckstrin homology domain-containing family M member 1
Short name:
PH domain-containing family M member 1
Alternative name(s):
162 kDa adapter protein
Short name:
AP162
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PLEKHM1
Synonyms:KIAA0356
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29017 PLEKHM1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611466 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y4G2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Osteopetrosis, autosomal recessive 6 (OPTB6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Osteopetrosis, autosomal dominant 3 (OPTA3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081102714R → C in OPTA3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs559224144Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi720 – 722Missing : Disrupts interaction with RAB7A. 1 Publication3
Mutagenesisi729E → A: Disrupts interaction with RAB7A. 1 Publication1
Mutagenesisi769R → A: Disrupts interaction with RAB7A. 1 Publication1
Mutagenesisi1021C → G: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1024, L-1029 and G-1032. 1 Publication1
Mutagenesisi1024C → G: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1021, L-1029 and G-1032. 1 Publication1
Mutagenesisi1029H → L: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1021, G-1024 and G-1032. 1 Publication1
Mutagenesisi1032C → G: Disrupts interaction with Rab7and no localization to endososmal membranes; when associated with G-1021, G-1024 and L-1029. 1 Publication1

Keywords - Diseasei

Disease mutation, Osteopetrosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
9842

MalaCards human disease database

More...
MalaCardsi
PLEKHM1
MIMi611497 phenotype
618107 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000225190

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
210110 Intermediate osteopetrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134906881

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y4G2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PLEKHM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160419247

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003093351 – 1056Pleckstrin homology domain-containing family M member 1Add BLAST1056

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei219PhosphoserineBy similarity1
Modified residuei432PhosphoserineCombined sources1
Modified residuei435PhosphoserineBy similarity1
Modified residuei490PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y4G2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y4G2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y4G2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y4G2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y4G2

PeptideAtlas

More...
PeptideAtlasi
Q9Y4G2

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y4G2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
86202

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y4G2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y4G2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000225190 Expressed in 228 organ(s), highest expression level in lower esophagus mucosa

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y4G2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y4G2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA025018
HPA039473

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via N- and C-terminus) with RAB7A (GTP-bound form) (PubMed:20943950, PubMed:25500191).

Interacts with VPS41, VPS11 and VPS39; indicative for an association with the HOPS complex; the interaction with VPS41 seems to require RAB7A (PubMed:25500191, PubMed:25498145).

Interacts with GABARAP, GABARAPL, GABARAPL2, MAP1LC3A, MAP1LC3B and MAP1LC3C (PubMed:25498145).

Interacts with PAFAH1B (By similarity).

Interacts with Salmonella typhimurium sifA (PubMed:25500191).

Interacts (via N- and C-terminus) with NDEL1 (By similarity).

Interacts (via C-terminus) with MAP3K7 (By similarity).

Interacts (via N- and C-terminus) with FAM98A (By similarity).

Interacts (via C-terminus) with DEF8; this interaction is weak but increased in a RAB7A-dependent manner (By similarity). In colon carcinoma and breast carcinoma cells, it interacts with sialyl-lex-positive protein (PubMed:12820725).

By similarity4 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115178, 10 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y4G2, 10 interactors

Molecular INTeraction database

More...
MINTi
Q9Y4G2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000389913

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11056
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y4G2

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini41 – 183RUNPROSITE-ProRule annotationAdd BLAST143
Domaini534 – 625PH 1PROSITE-ProRule annotationAdd BLAST92
Domaini683 – 777PH 2PROSITE-ProRule annotationAdd BLAST95

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni654 – 1056Interaction with RAB7A1 PublicationAdd BLAST403

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi632 – 638LIRCurated7

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins GABARAP, GABARAPL, GABARAPL2, and LC3A/B/C.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri986 – 1040Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST55

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410ITGM Eukaryota
ENOG4111EZ2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155111

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000247013

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y4G2

KEGG Orthology (KO)

More...
KOi
K23282

Identification of Orthologs from Complete Genome Data

More...
OMAi
NHGLLEC

Database of Orthologous Groups

More...
OrthoDBi
177737at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y4G2

TreeFam database of animal gene trees

More...
TreeFami
TF317067

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00029 C1, 1 hit
cd13321 PH_PLEKHM1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002219 PE/DAG-bd
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR042827 PLEKHM1_PH
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR025258 Zf-RING_9

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02759 RUN, 1 hit
PF13901 zf-RING_9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00109 C1, 1 hit
SM01175 DUF4206, 1 hit
SM00233 PH, 2 hits
SM00593 RUN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF140741 SSF140741, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50826 RUN, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q9Y4G2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLSVVENGLD PQAAIPVIKK KLVGSVKALQ KQYVSLDTVV TSEDGDANTM
60 70 80 90 100
CSALEAVFIH GLHAKHIRAE AGGKRKKSAH QKPLPQPVFW PLLKAVTHKH
110 120 130 140 150
IISELEHLTF VNTDVGRCRA WLRLALNDGL MECYLKLLLQ EQARLHEYYQ
160 170 180 190 200
PTALLRDAEE GEFLLSFLQG LTSLSFELSY KSAILNEWTL TPLALSGLCP
210 220 230 240 250
LSELDPLSTS GAELQRKESL DSISHSSGSE DIEVHHSGHK IRRNQKLTAS
260 270 280 290 300
SLSLDTASSS QLSCSLNSDS CLLQENGSKS PDHCEEPMSC DSDLGTANAE
310 320 330 340 350
DSDRSLQEVL LEFSKAQVNS VPTNGLSQET EIPTPQASLS LHGLNTSTYL
360 370 380 390 400
HCEAPAEPLP AQAASGTQDG VHVQEPRPQA PSPLDLQQPV ESTSGQQPSS
410 420 430 440 450
TVSETAREVG QGNGLQKAQA HDGAGLKLVV SSPTSPKNKS WISEDDFYRP
460 470 480 490 500
SREQPLESAS DHPIASYRGT PGSRPGLHRH FSQEPRKNCS LGALDQACVP
510 520 530 540 550
SPGRRQAQAA PSQGHKSFRV VHRRQMGLSN PFRGLMKLGT VERRGAMGIW
560 570 580 590 600
KELFCELSPL EFRLYLSNEE HTCVENCSLL RCESVGPAHS DGRFELVFSG
610 620 630 640 650
KKLALRASSQ DEAEDWLDRV REALQKVRPQ QEDEWVNVQY PDQPEEPPEA
660 670 680 690 700
PQGCLSPSDL LSEPAALQGT QFDWSSAQVP EPDAIKESLL YLYMDRTWMP
710 720 730 740 750
YIFSLSLEAL KCFRIRNNEK MLSDSHGVET IRDILPDTSL GGPSFFKIIT
760 770 780 790 800
AKAVLKLQAG NAEEAALWRD LVRKVLASYL ETAEEAVTLG GSLDENCQEV
810 820 830 840 850
LKFATRENGF LLQYLVAIPM EKGLDSQGCF CAGCSRQIGF SFVRPKLCAF
860 870 880 890 900
SGLYYCDICH QDDASVIPAR IIHNWDLTKR PICRQALKFL TQIRAQPLIN
910 920 930 940 950
LQMVNASLYE HVERMHLIGR RREQLKLLGD YLGLCRSGAL KELSKRLNHR
960 970 980 990 1000
NYLLESPHRF SVADLQQIAD GVYEGFLKAL IEFASQHVYH CDLCTQRGFI
1010 1020 1030 1040 1050
CQICQHHDII FPFEFDTTVR CAECKTVFHQ SCQAVVKKGC PRCARRRKYQ

EQNIFA
Length:1,056
Mass (Da):117,443
Last modified:November 13, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i24004093CFA89079
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRL8J3KRL8_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
140Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRU0J3KRU0_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
335Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EQ68K7EQ68_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPF2K7EPF2_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EII8K7EII8_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EMP2K7EMP2_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KS30J3KS30_HUMAN
Pleckstrin homology domain-containi...
PLEKHM1
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA20813 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAB91652 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti429 – 436VVSSPTSP → GLRPVSAR in BAB84929 (Ref. 4) Curated8
Sequence conflicti817A → G in BAB84929 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036932377R → H. Corresponds to variant dbSNP:rs1859059Ensembl.1
Natural variantiVAR_081102714R → C in OPTA3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs559224144Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB002354 mRNA Translation: BAA20813.2 Different initiation.
BC064361 mRNA Translation: AAH64361.1
AJ002220 mRNA Translation: CAB91652.1 Different initiation.
AK074103 mRNA Translation: BAB84929.1
AL389948 mRNA Translation: CAB97526.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32671.1

NCBI Reference Sequences

More...
RefSeqi
NP_055613.1, NM_014798.2
XP_006722264.1, XM_006722201.3
XP_011523825.1, XM_011525523.2
XP_011523826.1, XM_011525524.1
XP_016880940.1, XM_017025451.1
XP_016880942.1, XM_017025453.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000430334; ENSP00000389913; ENSG00000225190
ENST00000613787; ENSP00000479066; ENSG00000277111
ENST00000617688; ENSP00000483820; ENSG00000276358

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9842

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9842

UCSC genome browser

More...
UCSCi
uc002ija.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002354 mRNA Translation: BAA20813.2 Different initiation.
BC064361 mRNA Translation: AAH64361.1
AJ002220 mRNA Translation: CAB91652.1 Different initiation.
AK074103 mRNA Translation: BAB84929.1
AL389948 mRNA Translation: CAB97526.1
CCDSiCCDS32671.1
RefSeqiNP_055613.1, NM_014798.2
XP_006722264.1, XM_006722201.3
XP_011523825.1, XM_011525523.2
XP_011523826.1, XM_011525524.1
XP_016880940.1, XM_017025451.1
XP_016880942.1, XM_017025453.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DPRX-ray2.50A/B/C/D627-638[»]
5DPSX-ray2.00A/B/C627-638[»]
5DPTX-ray2.90A/B627-638[»]
5DPWX-ray2.19B/D/F/H/J/L/N/P629-642[»]
SMRiQ9Y4G2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115178, 10 interactors
IntActiQ9Y4G2, 10 interactors
MINTiQ9Y4G2
STRINGi9606.ENSP00000389913

PTM databases

iPTMnetiQ9Y4G2
PhosphoSitePlusiQ9Y4G2

Polymorphism and mutation databases

BioMutaiPLEKHM1
DMDMi160419247

Proteomic databases

EPDiQ9Y4G2
jPOSTiQ9Y4G2
MassIVEiQ9Y4G2
MaxQBiQ9Y4G2
PaxDbiQ9Y4G2
PeptideAtlasiQ9Y4G2
PRIDEiQ9Y4G2
ProteomicsDBi86202

Genome annotation databases

EnsembliENST00000430334; ENSP00000389913; ENSG00000225190
ENST00000613787; ENSP00000479066; ENSG00000277111
ENST00000617688; ENSP00000483820; ENSG00000276358
GeneIDi9842
KEGGihsa:9842
UCSCiuc002ija.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9842
DisGeNETi9842

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PLEKHM1
HGNCiHGNC:29017 PLEKHM1
HPAiHPA025018
HPA039473
MalaCardsiPLEKHM1
MIMi611466 gene
611497 phenotype
618107 phenotype
neXtProtiNX_Q9Y4G2
OpenTargetsiENSG00000225190
Orphaneti210110 Intermediate osteopetrosis
PharmGKBiPA134906881

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410ITGM Eukaryota
ENOG4111EZ2 LUCA
GeneTreeiENSGT00940000155111
HOGENOMiHOG000247013
InParanoidiQ9Y4G2
KOiK23282
OMAiNHGLLEC
OrthoDBi177737at2759
PhylomeDBiQ9Y4G2
TreeFamiTF317067

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PLEKHM1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PLEKHM1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9842
PharosiQ9Y4G2

Protein Ontology

More...
PROi
PR:Q9Y4G2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000225190 Expressed in 228 organ(s), highest expression level in lower esophagus mucosa
ExpressionAtlasiQ9Y4G2 baseline and differential
GenevisibleiQ9Y4G2 HS

Family and domain databases

CDDicd00029 C1, 1 hit
cd13321 PH_PLEKHM1, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR002219 PE/DAG-bd
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR042827 PLEKHM1_PH
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR025258 Zf-RING_9
PfamiView protein in Pfam
PF02759 RUN, 1 hit
PF13901 zf-RING_9, 1 hit
SMARTiView protein in SMART
SM00109 C1, 1 hit
SM01175 DUF4206, 1 hit
SM00233 PH, 2 hits
SM00593 RUN, 1 hit
SUPFAMiSSF140741 SSF140741, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50826 RUN, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPKHM1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y4G2
Secondary accession number(s): Q6P2R5
, Q8TEL9, Q9NPP5, Q9NYA0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: November 13, 2019
This is version 148 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again