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PLEKHA5 pleckstrin homology domain containing A5 [ Homo sapiens (human) ]

Gene ID: 54477, updated on 6-Jan-2019

Summary

Official Symbol
PLEKHA5provided by HGNC
Official Full Name
pleckstrin homology domain containing A5provided by HGNC
Primary source
HGNC:HGNC:30036
See related
Ensembl:ENSG00000052126 MIM:607770
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
PEPP2; PEPP-2
Expression
Ubiquitous expression in kidney (RPKM 6.7), ovary (RPKM 5.6) and 24 other tissues See more
Orthologs

Genomic context

See PLEKHA5 in Genome Data Viewer
Location:
12p12.3
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (19129680..19376400)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (19282626..19529334)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 6 Neighboring gene MEF2B neighbor pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 459, pseudogene Neighboring gene uncharacterized LOC112268092 Neighboring gene RNA, 7SL, cytoplasmic 67, pseudogene Neighboring gene serine and arginine rich splicing factor 11 pseudogene 1 Neighboring gene programmed cell death 5 pseudogene 1 Neighboring gene AE binding protein 2 Neighboring gene RNA, U6 small nuclear 254, pseudogene

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

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10667, FLJ26734, FLJ31492, KIAA1686

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-5-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
reproductive system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family A member 5
Names
PH domain-containing family A member 5
phosphoinositol 3-phosphate-binding protein-2
pleckstrin homology domain containing, family A member 5

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.

mRNA and Protein(s)

  1. NM_001143821.2NP_001137293.2  pleckstrin homology domain-containing family A member 5 isoform 2

    See identical proteins and their annotated locations for NP_001137293.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and has multiple differences in the coding region, compared to variant 5. The encoded protein (isoform 2) is shorter than isoform 4.
    Source sequence(s)
    AB051473, AC087314, AC091805, AC092828
    Consensus CDS
    CCDS44840.2
    UniProtKB/Swiss-Prot
    Q9HAU0
    UniProtKB/TrEMBL
    A0A024RAY7
    Related
    ENSP00000439673.1, ENST00000538714.5
    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  2. NM_001190860.2NP_001177789.2  pleckstrin homology domain-containing family A member 5 isoform 3

    See identical proteins and their annotated locations for NP_001177789.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, lacks several 3' coding exons and differs in the 3' UTR, compared to variant 5. This results in a shorter protein (isoform 3), compared to isoform 4.
    Source sequence(s)
    AC024902, AC092828, BC044245
    Consensus CDS
    CCDS55809.1
    UniProtKB/Swiss-Prot
    Q9HAU0
    Related
    ENSP00000439396.1, ENST00000540972.5
    Conserved Domains (1) summary
    pfam00397
    Location:1241
    WW; WW domain
  3. NM_001256470.1NP_001243399.1  pleckstrin homology domain-containing family A member 5 isoform 4

    See identical proteins and their annotated locations for NP_001243399.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5, also known as L-PLEKHA5) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AB642244, AC091805, AC092828, AL834259
    Consensus CDS
    CCDS58213.1
    UniProtKB/Swiss-Prot
    Q9HAU0
    Related
    ENSP00000404296.2, ENST00000429027.6
    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  4. NM_001256787.1NP_001243716.1  pleckstrin homology domain-containing family A member 5 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks several alternate in-frame exons compared to variant 5. The resulting isoform (5) is shorter at the N-terminus and lacks several alternate segments compared to isoform 4.
    Source sequence(s)
    AC024902, AC091805, AF302150, AK294739
    Consensus CDS
    CCDS58214.1
    UniProtKB/Swiss-Prot
    Q9HAU0
    Related
    ENSP00000400411.2, ENST00000424268.5
    Conserved Domains (2) summary
    cd13248
    Location:56159
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:62158
    PH; PH domain
  5. NM_019012.5NP_061885.2  pleckstrin homology domain-containing family A member 5 isoform 1

    See identical proteins and their annotated locations for NP_061885.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1, also known as S-PLEKHA5) has multiple differences in the coding region but maintains the reading frame, compared to variant 5. This variant encodes isoform 1, which is shorter than isoform 4.
    Source sequence(s)
    AC091805, AC092828, AF302150
    Consensus CDS
    CCDS8682.1
    UniProtKB/Swiss-Prot
    Q9HAU0
    Related
    ENSP00000299275.6, ENST00000299275.10
    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    19129680..19376400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019502.1XP_016874991.1  pleckstrin homology domain-containing family A member 5 isoform X16

  2. XM_017019503.1XP_016874992.1  pleckstrin homology domain-containing family A member 5 isoform X17

    UniProtKB/Swiss-Prot
    Q9HAU0
    Conserved Domains (1) summary
    pfam00397
    Location:1241
    WW; WW domain
  3. XM_006719096.1XP_006719159.1  pleckstrin homology domain-containing family A member 5 isoform X1

    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  4. XM_011520716.1XP_011519018.1  pleckstrin homology domain-containing family A member 5 isoform X5

    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  5. XM_017019495.1XP_016874984.1  pleckstrin homology domain-containing family A member 5 isoform X2

  6. XM_017019496.1XP_016874985.1  pleckstrin homology domain-containing family A member 5 isoform X6

  7. XM_011520714.1XP_011519016.1  pleckstrin homology domain-containing family A member 5 isoform X3

    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  8. XM_011520715.1XP_011519017.1  pleckstrin homology domain-containing family A member 5 isoform X4

    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  9. XM_011520717.1XP_011519019.1  pleckstrin homology domain-containing family A member 5 isoform X9

    See identical proteins and their annotated locations for XP_011519019.1

    UniProtKB/Swiss-Prot
    Q9HAU0
    UniProtKB/TrEMBL
    A0A024RAY7
    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  10. XM_006719091.1XP_006719154.1  pleckstrin homology domain-containing family A member 5 isoform X7

    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  11. XM_005253400.1XP_005253457.1  pleckstrin homology domain-containing family A member 5 isoform X8

    See identical proteins and their annotated locations for XP_005253457.1

    UniProtKB/Swiss-Prot
    Q9HAU0
    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  12. XM_006719093.1XP_006719156.1  pleckstrin homology domain-containing family A member 5 isoform X11

    Conserved Domains (3) summary
    cd13248
    Location:164267
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:170266
    PH; PH domain
    pfam00397
    Location:5887
    WW; WW domain
  13. XM_017019499.1XP_016874988.1  pleckstrin homology domain-containing family A member 5 isoform X13

  14. XM_017019500.1XP_016874989.1  pleckstrin homology domain-containing family A member 5 isoform X14

  15. XM_017019501.1XP_016874990.1  pleckstrin homology domain-containing family A member 5 isoform X15

  16. XM_017019497.1XP_016874986.1  pleckstrin homology domain-containing family A member 5 isoform X10

  17. XM_017019498.1XP_016874987.1  pleckstrin homology domain-containing family A member 5 isoform X12

    Related
    ENSP00000440611.1, ENST00000539256.5

RNA

  1. XR_001748773.1 RNA Sequence

  2. XR_001748772.1 RNA Sequence

  3. XR_002957340.1 RNA Sequence

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