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    PLEKHM3 pleckstrin homology domain containing M3 [ Homo sapiens (human) ]

    Gene ID: 389072, updated on 6-Jun-2024

    Summary

    Official Symbol
    PLEKHM3provided by HGNC
    Official Full Name
    pleckstrin homology domain containing M3provided by HGNC
    Primary source
    HGNC:HGNC:34006
    See related
    Ensembl:ENSG00000178385 MIM:619186; AllianceGenome:HGNC:34006
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAPR; PLEKHM1L
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in myoblast differentiation. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 3.2), thyroid (RPKM 2.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PLEKHM3 in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (207821288..208025527, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208295515..208499792, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (208686012..208890251, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclin Y like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208631909-208632465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208632466-208633023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17045 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208635695-208636515 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:208636987-208637462 Neighboring gene microRNA 4775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208647704-208648204 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208660472-208661457 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208661458-208662442 Neighboring gene frizzled class receptor 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208666419-208666920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208666921-208667420 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208675729-208676550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17048 Neighboring gene HNF1 motif-containing MPRA enhancer 152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208713897-208714396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:208772908-208774107 Neighboring gene Sharpr-MPRA regulatory region 2767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:208835249-208835782 Neighboring gene RNA, U6 small nuclear 360, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17049 Neighboring gene ribosomal protein L9 pseudogene 14 Neighboring gene RNA, 5S ribosomal pseudogene 116

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41210, AC083900.1, DKFZp686O04200

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family M member 3
    Names
    PH domain-containing family M member 3
    differentiation associated protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001080475.3NP_001073944.1  pleckstrin homology domain-containing family M member 3

      See identical proteins and their annotated locations for NP_001073944.1

      Status: VALIDATED

      Source sequence(s)
      AC083900, AC093698, AC096772
      Consensus CDS
      CCDS42808.1
      UniProtKB/Swiss-Prot
      B9EKV2, Q6ZWE6, Q8WW68
      UniProtKB/TrEMBL
      C9J119
      Related
      ENSP00000417003.2, ENST00000427836.8
      Conserved Domains (4) summary
      cd13327
      Location:364451
      PH_PLEKHM3_2; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 2
      cd14674
      Location:214303
      PH_PLEKHM3_1; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 1
      pfam00169
      Location:362454
      PH; PH domain
      pfam13901
      Location:529729
      zf-RING_9; Putative zinc-RING and/or ribbon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      207821288..208025527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004073.2XP_016859562.1  pleckstrin homology domain-containing family M member 3 isoform X6

    2. XM_005246545.4XP_005246602.1  pleckstrin homology domain-containing family M member 3 isoform X4

      UniProtKB/TrEMBL
      C9J119
      Conserved Domains (4) summary
      cd13327
      Location:364451
      PH_PLEKHM3_2; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 2
      cd14674
      Location:214303
      PH_PLEKHM3_1; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 1
      pfam00169
      Location:362454
      PH; PH domain
      pfam13901
      Location:529651
      zf-RING_9; Putative zinc-RING and/or ribbon
    3. XM_011511160.3XP_011509462.1  pleckstrin homology domain-containing family M member 3 isoform X1

      See identical proteins and their annotated locations for XP_011509462.1

      UniProtKB/Swiss-Prot
      B9EKV2, Q6ZWE6, Q8WW68
      UniProtKB/TrEMBL
      C9J119
      Conserved Domains (4) summary
      cd13327
      Location:364451
      PH_PLEKHM3_2; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 2
      cd14674
      Location:214303
      PH_PLEKHM3_1; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 1
      pfam00169
      Location:362454
      PH; PH domain
      pfam13901
      Location:529729
      zf-RING_9; Putative zinc-RING and/or ribbon
    4. XM_017004072.3XP_016859561.1  pleckstrin homology domain-containing family M member 3 isoform X5

      UniProtKB/TrEMBL
      H7C0J9
      Related
      ENSP00000395354.1, ENST00000447645.5
    5. XM_006712521.5XP_006712584.1  pleckstrin homology domain-containing family M member 3 isoform X3

      UniProtKB/TrEMBL
      C9J119
      Conserved Domains (4) summary
      cd13327
      Location:364451
      PH_PLEKHM3_2; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 2
      cd14674
      Location:214303
      PH_PLEKHM3_1; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 1
      pfam00169
      Location:362454
      PH; PH domain
      pfam13901
      Location:529650
      zf-RING_9; Putative zinc-RING and/or ribbon
    6. XM_047444266.1XP_047300222.1  pleckstrin homology domain-containing family M member 3 isoform X3

      UniProtKB/TrEMBL
      C9J119
    7. XM_011511163.3XP_011509465.1  pleckstrin homology domain-containing family M member 3 isoform X2

      UniProtKB/TrEMBL
      C9J119
      Related
      ENSP00000400150.1, ENST00000457206.1
      Conserved Domains (4) summary
      cd13327
      Location:364451
      PH_PLEKHM3_2; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 2
      cd14674
      Location:214303
      PH_PLEKHM3_1; Pleckstrin homology domain-containing family M member 3 Pleckstrin homology domain 1
      pfam00169
      Location:362454
      PH; PH domain
      pfam13901
      Location:529652
      zf-RING_9; Putative zinc-RING and/or ribbon

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      208295515..208499792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341972.1XP_054197947.1  pleckstrin homology domain-containing family M member 3 isoform X6

    2. XM_054341970.1XP_054197945.1  pleckstrin homology domain-containing family M member 3 isoform X4

      UniProtKB/TrEMBL
      C9J119
    3. XM_054341966.1XP_054197941.1  pleckstrin homology domain-containing family M member 3 isoform X1

      UniProtKB/Swiss-Prot
      B9EKV2, Q6ZWE6, Q8WW68
      UniProtKB/TrEMBL
      C9J119
    4. XM_054341971.1XP_054197946.1  pleckstrin homology domain-containing family M member 3 isoform X5

      UniProtKB/TrEMBL
      H7C0J9
    5. XM_054341968.1XP_054197943.1  pleckstrin homology domain-containing family M member 3 isoform X3

      UniProtKB/TrEMBL
      C9J119
    6. XM_054341969.1XP_054197944.1  pleckstrin homology domain-containing family M member 3 isoform X3

      UniProtKB/TrEMBL
      C9J119
    7. XM_054341967.1XP_054197942.1  pleckstrin homology domain-containing family M member 3 isoform X2

      UniProtKB/TrEMBL
      C9J119