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PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 [ Homo sapiens (human) ]

Gene ID: 9842, updated on 19-Jul-2014
Official Symbol
PLEKHM1provided by HGNC
Official Full Name
pleckstrin homology domain containing, family M (with RUN domain) member 1provided by HGNC
Primary source
HGNC:29017
See related
Ensembl:ENSG00000225190; HPRD:11439; MIM:611466; Vega:OTTHUMG00000179074
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B2; AP162; OPTB6
Summary
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
See PLEKHM1 in Epigenomics, MapViewer
Location:
17q21.31
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (45435900..45490780, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43513266..43568146, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MAP3K14 antisense RNA 1 Neighboring gene mitogen-activated protein kinase kinase kinase 14 Neighboring gene Rho GTPase activating protein 27 Neighboring gene microRNA 4315-1 Neighboring gene ADP-ribosylation factor-like 17A pseudogene Neighboring gene leucine rich repeat containing 37, member A4, pseudogene Neighboring gene dead end homolog 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Osteopetrosis autosomal recessive 6
MedGen: C1969093 OMIM: 611497 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
NHGRI GWA Catalog
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0356

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pleckstrin homology domain-containing family M member 1
Names
pleckstrin homology domain-containing family M member 1
162 kDa adapter protein
PH domain-containing family M member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012932.1 

    Range
    5001..59881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014798.2NP_055613.1  pleckstrin homology domain-containing family M member 1

    See proteins identical to NP_055613.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    BC064361, DB064851
    Consensus CDS
    CCDS32671.1
    UniProtKB/Swiss-Prot
    Q9Y4G2
    Related
    ENSP00000389913, OTTHUMP00000260635, ENST00000430334, OTTHUMT00000444659
    Conserved Domains (5) summary
    smart00233
    Location:685777
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:9871040
    Blast Score: 112
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:499629
    Blast Score: 643
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam02759
    Location:49182
    Blast Score: 328
    RUN; RUN domain
    pfam13901
    Location:8461050
    Blast Score: 783
    DUF4206; Domain of unknown function (DUF4206)

RNA

  1. NR_027774.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an exon in the 5' coding region compared to variant 1. This variant is represented as non-coding because the use of the translational start codon as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK299116, BC064361, DB064851
  2. NR_027782.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing an exon in the 5' coding region compared to variant 1. This variant is represented as non-coding because the use of the translational start codon as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC053848, BC064361, DB064851

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 

    Range
    126335..181221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725277.1XP_006725340.1  

    See proteins identical to XP_006725340.1

    UniProtKB/Swiss-Prot
    Q9Y4G2
    Conserved Domains (5) summary
    smart00233
    Location:555647
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:857910
    Blast Score: 111
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:369499
    Blast Score: 637
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam13901
    Location:716920
    Blast Score: 776
    DUF4206; Domain of unknown function (DUF4206)
    cl02689
    Location:152
    Blast Score: 151
    RUN; RUN domain
  2. XM_006725278.1XP_006725341.1  

    See proteins identical to XP_006725341.1

    UniProtKB/Swiss-Prot
    Q9Y4G2
    Conserved Domains (5) summary
    smart00233
    Location:555647
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:857910
    Blast Score: 111
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:369499
    Blast Score: 637
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam13901
    Location:716920
    Blast Score: 776
    DUF4206; Domain of unknown function (DUF4206)
    cl02689
    Location:152
    Blast Score: 151
    RUN; RUN domain

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 

    Range
    126405..180935
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725632.1XP_006725695.1  

    See proteins identical to XP_006725695.1

    UniProtKB/Swiss-Prot
    Q9Y4G2
    Conserved Domains (5) summary
    smart00233
    Location:555647
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:857910
    Blast Score: 111
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:369499
    Blast Score: 637
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam13901
    Location:716920
    Blast Score: 776
    DUF4206; Domain of unknown function (DUF4206)
    cl02689
    Location:152
    Blast Score: 151
    RUN; RUN domain
  2. XM_006725633.1XP_006725696.1  

    See proteins identical to XP_006725696.1

    UniProtKB/Swiss-Prot
    Q9Y4G2
    Conserved Domains (5) summary
    smart00233
    Location:555647
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:857910
    Blast Score: 111
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:369499
    Blast Score: 637
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam13901
    Location:716920
    Blast Score: 776
    DUF4206; Domain of unknown function (DUF4206)
    cl02689
    Location:152
    Blast Score: 151
    RUN; RUN domain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    45435900..45490780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722201.1XP_006722264.1  

    See proteins identical to XP_006722264.1

    UniProtKB/Swiss-Prot
    Q9Y4G2
    Conserved Domains (5) summary
    smart00233
    Location:555647
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:857910
    Blast Score: 111
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:369499
    Blast Score: 637
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam13901
    Location:716920
    Blast Score: 776
    DUF4206; Domain of unknown function (DUF4206)
    cl02689
    Location:152
    Blast Score: 151
    RUN; RUN domain
  2. XM_006722202.1XP_006722265.1  

    See proteins identical to XP_006722265.1

    UniProtKB/Swiss-Prot
    Q9Y4G2
    Conserved Domains (5) summary
    smart00233
    Location:555647
    Blast Score: 95
    PH; Pleckstrin homology domain
    cd00029
    Location:857910
    Blast Score: 111
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd13321
    Location:369499
    Blast Score: 637
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam13901
    Location:716920
    Blast Score: 776
    DUF4206; Domain of unknown function (DUF4206)
    cl02689
    Location:152
    Blast Score: 151
    RUN; RUN domain

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    39273955..39296473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NW_001840979.1 

    Range
    1..385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    43748483..43803013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)