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PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 [ Homo sapiens (human) ]

Gene ID: 25894, updated on 3-Apr-2024

Summary

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Official Symbol
PLEKHG4provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G4provided by HGNC
Primary source
HGNC:HGNC:24501
See related
Ensembl:ENSG00000196155 MIM:609526; AllianceGenome:HGNC:24501
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
SCA4; PRTPHN1; ARHGEF44
Summary
The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression
Broad expression in testis (RPKM 20.1), ovary (RPKM 10.4) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
16q22.1
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67277580..67289480)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73071877..73083777)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67312065..67323383)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67265259-67265760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67265761-67266260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7594 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:67271286-67272485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67275498-67276171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67276172-67276844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10961 Neighboring gene formin homology 2 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67279559-67280218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67282619-67283120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67283121-67283620 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67287038-67287220 Neighboring gene solute carrier family 9 member A5 Neighboring gene uncharacterized LOC124903701 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67304537-67304794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7600 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67313287-67313468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67318282-67319022 Neighboring gene potassium channel tetramerization domain containing 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7602 Neighboring gene RN7SK pseudogene 118 Neighboring gene leucine rich repeat containing 36

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. New gene of spinocerebellar ataxia. Teive HA, et al. Brain, 2011 Jul. PMID 21357611
  2. Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan. Sakai H, et al. Neurogenetics, 2010 Oct. PMID 20424877, Free PMC Article
  3. [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia]. Zhou Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2008 Dec. PMID 19065522
  4. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. Amino T, et al. J Hum Genet, 2007. PMID 17611710
  5. Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. Nozaki H, et al. Mov Disord, 2007 Apr 30. PMID 17357132

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer.
    Title: Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer.
  2. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.
    Title: Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.
  3. This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1.
    Title: New gene of spinocerebellar ataxia.
  4. (TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31
    Title: Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.
  5. Rac1 activation specifically in membrane ruffles by the guanine-nucleotide-exchange factor FLJ00068 is sufficient for insulin induction of glucose uptake into skeletal-muscle cells.
    Title: Activation of the small GTPase Rac1 by a specific guanine-nucleotide-exchange factor suffices to induce glucose uptake into skeletal-muscle cells.
  6. The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.
    Title: [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].
  8. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
  9. Disease locus of 16q-autosomal dominant cerebellar ataxia was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1.
    Title: Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.
  10. Spinocerebellar ataxia type 4 (SCA4) is mapped to chromosome 16q22.1 in northern germany.Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512.
    Title: Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp434I216

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in extrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
puratrophin-1
Names
PH domain-containing family G member 4
Purkinje cell atrophy associated protein 1
pleckstrin homology domain containing, family G (with RhoGef domain) member 4

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.

Genomic

  1. NG_008439.2 RefSeqGene

    Range
    7023..16971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001129727.3 → NP_001123199.1  puratrophin-1 isoform 1

    See identical proteins and their annotated locations for NP_001123199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (1). Variants 2, 3, and 4 encode isoform 1.
    Source sequence(s)
    AK024475, BC054486, DB279205
    Consensus CDS
    CCDS32466.1
    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  2. NM_001129728.2 → NP_001123200.1  puratrophin-1 isoform 1

    See identical proteins and their annotated locations for NP_001123200.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2. Variants 2, 3, and 4 encode isoform 1.
    Source sequence(s)
    AB197663, AK308298, DB061030
    Consensus CDS
    CCDS32466.1
    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Related
    ENSP00000401118.2, ENST00000427155.6
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  3. NM_001129729.3 → NP_001123201.1  puratrophin-1 isoform 1

    See identical proteins and their annotated locations for NP_001123201.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 2, 3, and 4 encode isoform 1.
    Source sequence(s)
    BC054486, BC063501, DB461411
    Consensus CDS
    CCDS32466.1
    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Related
    ENSP00000368649.3, ENST00000379344.8
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  4. NM_001129731.3 → NP_001123203.1  puratrophin-1 isoform 2

    See identical proteins and their annotated locations for NP_001123203.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice site and lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 2. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB197663, BC054486, CF993821
    Consensus CDS
    CCDS45512.1
    UniProtKB/TrEMBL
    B4E3H4
    Related
    ENSP00000398030.1, ENST00000450733.5
    Conserved Domains (4) summary
    cd13242
    Location:818 → 953
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:843 → 945
    PH; PH domain
    pfam00621
    Location:655 → 826
    RhoGEF; RhoGEF domain
    cl02488
    Location:366 → 517
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    67277580..67289480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522987.3 → XP_011521289.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521289.1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  2. XM_011522988.3 → XP_011521290.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521290.1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  3. XM_047433897.1 → XP_047289853.1  puratrophin-1 isoform X2

  4. XM_047433899.1 → XP_047289855.1  puratrophin-1 isoform X4

  5. XM_047433895.1 → XP_047289851.1  puratrophin-1 isoform X2

  6. XM_047433893.1 → XP_047289849.1  puratrophin-1 isoform X2

  7. XM_011522986.3 → XP_011521288.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521288.1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Related
    ENSP00000353646.5, ENST00000360461.9
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  8. XM_047433896.1 → XP_047289852.1  puratrophin-1 isoform X2

  9. XM_011522985.3 → XP_011521287.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521287.1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4, B4E3H4
    Conserved Domains (3) summary
    cd13242
    Location:899 → 1034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736 → 906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447 → 598
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  10. XM_047433894.1 → XP_047289850.1  puratrophin-1 isoform X2

  11. XM_047433898.1 → XP_047289854.1  puratrophin-1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    73071877..73083777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380009.1 → XP_054235984.1  puratrophin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4

  2. XM_054380007.1 → XP_054235982.1  puratrophin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4

  3. XM_054380013.1 → XP_054235988.1  puratrophin-1 isoform X2

  4. XM_054380015.1 → XP_054235990.1  puratrophin-1 isoform X4

  5. XM_054380011.1 → XP_054235986.1  puratrophin-1 isoform X2

  6. XM_054380006.1 → XP_054235981.1  puratrophin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4

  7. XM_054380008.1 → XP_054235983.1  puratrophin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q4G0J8, Q4H485, Q56A69, Q58EX7, Q9H7K4, Q9UFW0
    UniProtKB/TrEMBL
    A0A024R6X4

  8. XM_054380010.1 → XP_054235985.1  puratrophin-1 isoform X2

  9. XM_054380012.1 → XP_054235987.1  puratrophin-1 isoform X2

  10. XM_054380014.1 → XP_054235989.1  puratrophin-1 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015432.3: Suppressed sequence

    Description
    NM_015432.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q58EX7.1 GenPept UniProtKB/Swiss-Prot:Q58EX7

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