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

Gene ID: 25894, updated on 1-Aug-2020

Summary

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
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

Genomic context

See PLEKHG4 in Genome Data Viewer
Location:
16q22.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67277820..67289500)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67311413..67323403)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene formin homology 2 domain containing 1 Neighboring gene solute carrier family 9 member A5 Neighboring gene potassium channel tetramerization domain containing 19 Neighboring gene RN7SK pseudogene 118 Neighboring gene leucine rich repeat containing 36

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

  • DKFZp434I216

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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
    5653..16971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001129727.3NP_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
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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_001129728.1NP_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, BC054486, DB061030
    Consensus CDS
    CCDS32466.1
    UniProtKB/Swiss-Prot
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Related
    ENSP00000401118.2, ENST00000427155.6
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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_001129729.3NP_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
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Related
    ENSP00000368649.3, ENST00000379344.8
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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_001129731.3NP_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/Swiss-Prot
    Q58EX7
    Related
    ENSP00000398030.1, ENST00000450733.5
    Conserved Domains (4) summary
    cd13242
    Location:818953
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:843945
    PH; PH domain
    pfam00621
    Location:655826
    RhoGEF; RhoGEF domain
    cl02488
    Location:366517
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    67277820..67289500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522987.2XP_011521289.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521289.1

    UniProtKB/Swiss-Prot
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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_011522988.2XP_011521290.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521290.1

    UniProtKB/Swiss-Prot
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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_011522986.2XP_011521288.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521288.1

    UniProtKB/Swiss-Prot
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Related
    ENSP00000353646.5, ENST00000360461.9
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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. XM_011522985.2XP_011521287.1  puratrophin-1 isoform X1

    See identical proteins and their annotated locations for XP_011521287.1

    UniProtKB/Swiss-Prot
    Q58EX7
    UniProtKB/TrEMBL
    A0A024R6X4
    Conserved Domains (3) summary
    cd13242
    Location:8991034
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00621
    Location:736906
    RhoGEF; RhoGEF domain
    cl02488
    Location:447598
    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; ...

RNA

  1. XR_933268.2 RNA Sequence

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.
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