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PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 [ Homo sapiens (human) ]

Gene ID: 57449, updated on 1-Jun-2020

Summary

Official Symbol
PLEKHG5provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G5provided by HGNC
Primary source
HGNC:HGNC:29105
See related
Ensembl:ENSG00000171680 MIM:611101
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
Syx; Tech; DSMA4; CMTRIC; GEF720
Summary
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Expression
Broad expression in skin (RPKM 31.5), spleen (RPKM 14.2) and 15 other tissues See more
Orthologs

Genomic context

See PLEKHG5 in Genome Data Viewer
Location:
1p36.31
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (6466092..6520092, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6526152..6580121, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene hes family bHLH transcription factor 2 Neighboring gene microRNA 4252 Neighboring gene espin Neighboring gene TNF receptor superfamily member 25 Neighboring gene nucleolar protein 9 Neighboring gene RNA, U6 small nuclear 731, pseudogene Neighboring gene uncharacterized LOC107984912 Neighboring gene taste 1 receptor member 1

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?

Phenotypes

Associated conditions

Description Tests
Charcot-Marie-Tooth disease, recessive intermediate c
MedGen: C3809309 OMIM: 615376 GeneReviews: Not available
Compare labs
Distal spinal muscular atrophy, autosomal recessive 4
MedGen: C1970211 OMIM: 611067 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common variants at ten loci influence QT interval duration in the QTGEN Study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0720

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family G member 5
Names
NFkB activating protein
PH domain-containing family G member 5
guanine nucleotide exchange factor 720
novel PH domain-containing protein
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
synectin-binding guanine exchange factor

NCBI Reference Sequences (RefSeq)

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_007978.1 RefSeqGene

    Range
    4949..58918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_262

mRNA and Protein(s)

  1. NM_001042663.3NP_001036128.2  pleckstrin homology domain-containing family G member 5 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a different segment for its 5' UTR and 5' coding region, compared to variant 2. The resulting protein (isoform c) has a shorter N-terminus when it is compared to isoform b.
    Source sequence(s)
    AB018263, DA915753
    Consensus CDS
    CCDS41241.1
    Related
    ENSP00000383706.3, ENST00000400915.7
  2. NM_001042664.1NP_001036129.1  pleckstrin homology domain-containing family G member 5 isoform a

    See identical proteins and their annotated locations for NP_001036129.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses a different segment for its 5' UTR and lacks some of the 5' coding region, compared to variant 2. The resulting protein (isoform a) is missing part of the N-terminus when it is compared to isoform b. Variants 1, 4, and 5 all encode the same protein.
    Source sequence(s)
    AB018263, AK096347, DA100291
    Consensus CDS
    CCDS79.1
    UniProtKB/Swiss-Prot
    O94827
    Related
    ENSP00000344570.5, ENST00000340850.9
    Conserved Domains (2) summary
    smart00325
    Location:340527
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13244
    Location:583681
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
  3. NM_001042665.1NP_001036130.1  pleckstrin homology domain-containing family G member 5 isoform a

    See identical proteins and their annotated locations for NP_001036130.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses a different segment for its 5' UTR and lacks some of the 5' coding region, compared to variant 2. The resulting protein (isoform a) is missing part of the N-terminus when it is compared to isoform b. Variants 1, 4, and 5 all encode the same protein.
    Source sequence(s)
    AB018263, AK096347, DA126163
    Consensus CDS
    CCDS79.1
    UniProtKB/Swiss-Prot
    O94827
    Related
    ENSP00000383704.1, ENST00000400913.5
    Conserved Domains (2) summary
    smart00325
    Location:340527
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13244
    Location:583681
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
  4. NM_001265592.2NP_001252521.2  pleckstrin homology domain-containing family G member 5 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded protein (isoform d) has a distinct N-terminus and is shorter than isoform b.
    Source sequence(s)
    AK294875, AL158217, BC042606
    Consensus CDS
    CCDS57969.1
    Related
    ENSP00000439625.1, ENST00000537245.5
  5. NM_001265593.1NP_001252522.1  pleckstrin homology domain-containing family G member 5 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded protein (isoform e) has a distinct N-terminus and is shorter than isoform b.
    Source sequence(s)
    AK299523, AL158217
    Consensus CDS
    CCDS57968.1
    UniProtKB/Swiss-Prot
    O94827
    Related
    ENSP00000441445.1, ENST00000535355.5
    Conserved Domains (2) summary
    smart00325
    Location:409596
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13244
    Location:652750
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
  6. NM_001265594.2NP_001252523.1  pleckstrin homology domain-containing family G member 5 isoform f

    See identical proteins and their annotated locations for NP_001252523.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, and uses an alternate splice site in the 3' coding region which results in a frameshift compared to variant 1. The encoded protein (isoform f) is shorter and has distinct N- and C-termini compared to isoform b.
    Source sequence(s)
    AL158217, BC015231, DA091930
    Consensus CDS
    CCDS57967.1
    UniProtKB/Swiss-Prot
    O94827
    Related
    ENSP00000366954.1, ENST00000377725.5
    Conserved Domains (2) summary
    smart00325
    Location:340527
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13244
    Location:583681
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
  7. NM_020631.6NP_065682.2  pleckstrin homology domain-containing family G member 5 isoform a

    See identical proteins and their annotated locations for NP_065682.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses a different segment for its 5' UTR and lacks some of the 5' coding region, compared to variant 2. The resulting protein (isoform a) is missing part of the N-terminus when it is compared to isoform b. Variants 1, 4, and 5 all encode the same protein.
    Source sequence(s)
    AK024676, AL158217
    Consensus CDS
    CCDS79.1
    UniProtKB/Swiss-Prot
    O94827
    Related
    ENSP00000366957.3, ENST00000377728.7
    Conserved Domains (2) summary
    smart00325
    Location:340527
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13244
    Location:583681
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
  8. NM_198681.4NP_941374.3  pleckstrin homology domain-containing family G member 5 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform b).
    Source sequence(s)
    AL158217, AL591866
    Consensus CDS
    CCDS41240.1
    Related
    ENSP00000366977.1, ENST00000377748.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    6466092..6520092 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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