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PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 [ Homo sapiens (human) ]

Gene ID: 26030, updated on 17-Sep-2024

Summary

Official Symbol
PLEKHG3provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G3provided by HGNC
Primary source
HGNC:HGNC:20364
See related
Ensembl:ENSG00000126822 MIM:617940; AllianceGenome:HGNC:20364
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
ARHGEF43; KIAA0599
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in endometrium (RPKM 8.9), kidney (RPKM 8.6) and 25 other tissues See more
Orthologs
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Genomic context

See PLEKHG3 in Genome Data Viewer
Location:
14q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64704424..64750249)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (58912267..58958084)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65171142..65216967)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5839 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:65039864-65040400 Neighboring gene protein phosphatase 1 regulatory subunit 36 Neighboring gene nucleoporin 50 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65099836-65100338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65142104-65142604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65142605-65143105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65146682-65147226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65169421-65169922 Neighboring gene NANOG hESC enhancer GRCh37_chr14:65175156-65175657 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65181995-65182914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65182915-65183832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65184752-65185669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65194651-65195302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65195956-65196607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65202813-65203735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65203736-65204657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65233085-65234003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65241545-65242046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65242047-65242546 Neighboring gene spectrin beta, erythrocytic Neighboring gene microRNA 7855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65298097-65298596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65322751-65323318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5844 Neighboring gene uncharacterized LOC105370534

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC156299, MGC156300

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family G member 3
Names
PH domain-containing family G member 3
pleckstrin homology domain containing, family G (with RhoGef domain) member 3
pleckstrin homology domain containing, family G, member 3

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_001308147.2NP_001295076.1  pleckstrin homology domain-containing family G member 3

    See identical proteins and their annotated locations for NP_001295076.1

    Status: VALIDATED

    Source sequence(s)
    AL121774, BC129952, BC129953, BU681724, BX248779, CN284264, HY057390
    Consensus CDS
    CCDS76690.1
    UniProtKB/Swiss-Prot
    A1L389, A1L390, B5MEC9, O60339, Q6GMS3, Q6P4B1, Q7L3S3, Q86SW7, Q8TEF5, Q96EW6, Q9BT82
    UniProtKB/TrEMBL
    A0A0U1RR71, A0A2X0SFH4
    Related
    ENSP00000247226.8, ENST00000247226.13
    Conserved Domains (2) summary
    cd13243
    Location:253396
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:97270
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    64704424..64750249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    58912267..58958084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015549.1: Suppressed sequence

    Description
    NM_015549.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.