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

Gene ID: 389072, updated on 6-Sep-2022

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
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Genomic context

See PLEKHM3 in Genome Data Viewer
Location:
2q33.3
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (207821288..208025527, complement)
110 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 frizzled class receptor 5 Neighboring gene Sharpr-MPRA regulatory region 8784 Neighboring gene HNF1 motif-containing MPRA enhancer 152 Neighboring gene Sharpr-MPRA regulatory region 2767 Neighboring gene RNA, U6 small nuclear 360, pseudogene 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

Homology

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)

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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
    Q6ZWE6, Q8WW68
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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
    Q6ZWE6, Q8WW68
    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

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

    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

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

    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)