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PLEKHA4 pleckstrin homology domain containing A4 [ Homo sapiens (human) ]

Gene ID: 57664, updated on 19-Sep-2021

Summary

Official Symbol
PLEKHA4provided by HGNC
Official Full Name
pleckstrin homology domain containing A4provided by HGNC
Primary source
HGNC:HGNC:14339
See related
Ensembl:ENSG00000105559 MIM:607769
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
PEPP1
Summary
This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in ovary (RPKM 7.2), endometrium (RPKM 6.0) and 24 other tissues See more
Orthologs
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Genomic context

See PLEKHA4 in Genome Data Viewer
Location:
19q13.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48837092..48868622, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49340354..49371874, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated BCAT2 regulatory element Neighboring gene hydroxysteroid 17-beta dehydrogenase 14 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element Neighboring gene CRISPRi-FlowFISH-validated FTL and NUCB1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated BAX, FTL and NUCB1 regulatory element Neighboring gene protein phosphatase 1 regulatory subunit 15A

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

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in extrinsic component of cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family A member 4
Names
PH domain-containing family A member 4
phosphoinositol 3-phosphate-binding PH domain protein 1
pleckstrin homology domain containing, family A (phosphoinositide binding specific) 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_054880.1 RefSeqGene

    Range
    5011..36531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161354.2NP_001154826.1  pleckstrin homology domain-containing family A member 4 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a frameshift. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026803, BC024157, BC064601
    Consensus CDS
    CCDS54291.1
    UniProtKB/Swiss-Prot
    Q9H4M7
    Related
    ENSP00000347683.4, ENST00000355496.9
    Conserved Domains (2) summary
    cd13248
    Location:49152
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:55153
    PH; PH domain
  2. NM_020904.3NP_065955.2  pleckstrin homology domain-containing family A member 4 isoform 1

    See identical proteins and their annotated locations for NP_065955.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC026803, BC024157
    Consensus CDS
    CCDS12737.1
    UniProtKB/Swiss-Prot
    Q9H4M7
    Related
    ENSP00000263265.5, ENST00000263265.11
    Conserved Domains (2) summary
    cd13248
    Location:49152
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:55153
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48837092..48868622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527158.3XP_011525460.1  pleckstrin homology domain-containing family A member 4 isoform X3

    Conserved Domains (2) summary
    cd13248
    Location:32116
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:36117
    PH; PH domain
  2. XM_006723301.2XP_006723364.1  pleckstrin homology domain-containing family A member 4 isoform X8

    Conserved Domains (2) summary
    cd13248
    Location:49152
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:55153
    PH; PH domain
  3. XM_005259107.2XP_005259164.1  pleckstrin homology domain-containing family A member 4 isoform X2

    Conserved Domains (2) summary
    cd13248
    Location:49152
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:55153
    PH; PH domain
  4. XM_011527160.1XP_011525462.1  pleckstrin homology domain-containing family A member 4 isoform X5

    Conserved Domains (2) summary
    cd13248
    Location:49152
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:55153
    PH; PH domain
  5. XM_011527157.1XP_011525459.1  pleckstrin homology domain-containing family A member 4 isoform X1

    Conserved Domains (2) summary
    cd13248
    Location:49152
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:55153
    PH; PH domain
  6. XM_011527159.1XP_011525461.1  pleckstrin homology domain-containing family A member 4 isoform X4

    Conserved Domains (2) summary
    pfam00169
    Location:49113
    PH; PH domain
    cl17171
    Location:47112
    PH-like; Pleckstrin homology-like domain
  7. XM_017027037.1XP_016882526.1  pleckstrin homology domain-containing family A member 4 isoform X6

    Conserved Domains (1) summary
    cl17171
    Location:225
    PH-like; Pleckstrin homology-like domain
  8. XM_011527162.2XP_011525464.1  pleckstrin homology domain-containing family A member 4 isoform X7

    Conserved Domains (2) summary
    PHA03247
    Location:155417
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:15123
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
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