Format

Send to:

Choose Destination

PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha [ Homo sapiens (human) ]

Gene ID: 8394, updated on 26-Nov-2021

Summary

Official Symbol
PIP5K1Aprovided by HGNC
Official Full Name
phosphatidylinositol-4-phosphate 5-kinase type 1 alphaprovided by HGNC
Primary source
HGNC:HGNC:8994
See related
Ensembl:ENSG00000143398 MIM:603275
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
Expression
Ubiquitous expression in testis (RPKM 22.2), placenta (RPKM 13.0) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PIP5K1A in Genome Data Viewer
Location:
1q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (151197954..151249536)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151171028..151222007)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNFAIP8L2-SCNM1 readthrough Neighboring gene sodium channel modifier 1 Neighboring gene tropomodulin 4 Neighboring gene vacuolar protein sorting 72 homolog Neighboring gene Sharpr-MPRA regulatory region 10214 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 4 Neighboring gene ZNF687 antisense RNA 1 Neighboring gene zinc finger protein 687

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 Env-gp120 protein induces PIP(2) production in permissive lymphocytes through the activation of phosphatidylinositol-4-phosphate 5-kinase (PI4P5-K) Ialpha. Cells overexpressing mutant D227A (D/A)-PI4P5-K Ialpha severely reduce HIV-1 infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell migration NAS
Non-traceable Author Statement
more info
PubMed 
involved_in fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
involved_in focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycerophospholipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in phagocytosis TAS
Traceable Author Statement
more info
PubMed 
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in phosphatidylinositol phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
involved_in ruffle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in focal adhesion HDA PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck TAS
Traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphatidylinositol 4-phosphate 5-kinase type-1 alpha
Names
68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha
PIP5K1-alpha
PIP5KIalpha
phosphatidylinositol 4-phosphate 5-kinase type I alpha
ptdIns(4)P-5-kinase 1 alpha
NP_001129108.1
NP_001129109.1
NP_001129110.1
NP_001317618.1
NP_003548.1
XP_005245582.1
XP_005245584.1
XP_005245585.1
XP_005245587.1
XP_005245589.1
XP_006711626.1
XP_006711627.1
XP_006711630.1
XP_006711631.2
XP_011508345.1
XP_011508347.1
XP_011508348.1
XP_011508350.1
XP_011508351.1
XP_016857928.1
XP_016857929.1
XP_016857930.1
XP_024305897.1
XP_024305898.1
XP_024305899.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001135636.2NP_001129108.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two in-frame coding exons, as compared to variant 1. The resulting isoform (3) is shorter but has identical N- and C-termini, as compared to isoform 1.
    Source sequence(s)
    AL592424
    Consensus CDS
    CCDS44220.1
    UniProtKB/Swiss-Prot
    Q99755
    Related
    ENSP00000415648.2, ENST00000441902.6
    Conserved Domains (1) summary
    smart00330
    Location:97409
    PIPKc; Phosphatidylinositol phosphate kinases
  2. NM_001135637.2NP_001129109.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 4

    See identical proteins and their annotated locations for NP_001129109.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks 3 nt at an alternate splice site and two in-frame exons in the CDS, as compared to variant 1. The resulting isoform (4) is shorter but has identical N- and C-termini, as compared to isoform 1.
    Source sequence(s)
    AL592424
    Consensus CDS
    CCDS44221.1
    UniProtKB/Swiss-Prot
    Q99755
    Related
    ENSP00000357885.4, ENST00000368890.8
    Conserved Domains (1) summary
    smart00330
    Location:96436
    PIPKc; Phosphatidylinositol phosphate kinases
  3. NM_001135638.2NP_001129110.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 1

    See identical proteins and their annotated locations for NP_001129110.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL592424
    Consensus CDS
    CCDS44219.1
    UniProtKB/Swiss-Prot
    Q99755
    Related
    ENSP00000357883.4, ENST00000368888.9
    Conserved Domains (1) summary
    smart00330
    Location:109449
    PIPKc; Phosphatidylinositol phosphate kinases
  4. NM_001330689.2NP_001317618.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL592424
    Consensus CDS
    CCDS81374.1
    UniProtKB/Swiss-Prot
    Q99755
    UniProtKB/TrEMBL
    A6PW57
    Related
    ENSP00000386432.1, ENST00000409426.5
  5. NM_003557.3NP_003548.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 2

    See identical proteins and their annotated locations for NP_003548.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks 3 nt at an alternate splice site and an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) is shorter but has identical N- and C-termini, as compared to isoform 1.
    Source sequence(s)
    AL592424
    Consensus CDS
    CCDS990.1
    UniProtKB/Swiss-Prot
    Q99755
    Related
    ENSP00000271663.7, ENST00000349792.9
    Conserved Domains (1) summary
    smart00330
    Location:96436
    PIPKc; Phosphatidylinositol phosphate kinases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    151197954..151249536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450130.1XP_024305898.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X9

    Conserved Domains (1) summary
    smart00330
    Location:101441
    PIPKc; Phosphatidylinositol phosphate kinases
  2. XM_006711568.4XP_006711631.2  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X3

    Conserved Domains (1) summary
    smart00330
    Location:114454
    PIPKc; Phosphatidylinositol phosphate kinases
  3. XM_011510043.3XP_011508345.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X8

    Conserved Domains (1) summary
    smart00330
    Location:102442
    PIPKc; Phosphatidylinositol phosphate kinases
  4. XM_024450129.1XP_024305897.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X4

    Conserved Domains (1) summary
    smart00330
    Location:113453
    PIPKc; Phosphatidylinositol phosphate kinases
  5. XM_006711563.4XP_006711626.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X1

    Conserved Domains (1) summary
    smart00330
    Location:121461
    PIPKc; Phosphatidylinositol phosphate kinases
  6. XM_005245525.5XP_005245582.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X2

    Conserved Domains (1) summary
    smart00330
    Location:119459
    PIPKc; Phosphatidylinositol phosphate kinases
  7. XM_005245528.5XP_005245585.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X7

    Conserved Domains (1) summary
    smart00330
    Location:107447
    PIPKc; Phosphatidylinositol phosphate kinases
  8. XM_017002439.1XP_016857928.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X15

  9. XM_005245527.4XP_005245584.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X6

    Conserved Domains (1) summary
    smart00330
    Location:108448
    PIPKc; Phosphatidylinositol phosphate kinases
  10. XM_017002440.1XP_016857929.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X16

  11. XM_005245532.4XP_005245589.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X12

    Conserved Domains (1) summary
    smart00330
    Location:89429
    PIPKc; Phosphatidylinositol phosphate kinases
  12. XM_011510046.3XP_011508348.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X13

    Conserved Domains (1) summary
    smart00330
    Location:88428
    PIPKc; Phosphatidylinositol phosphate kinases
  13. XM_006711564.4XP_006711627.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X5

    Conserved Domains (1) summary
    smart00330
    Location:109449
    PIPKc; Phosphatidylinositol phosphate kinases
  14. XM_006711567.4XP_006711630.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

    See identical proteins and their annotated locations for XP_006711630.1

    Conserved Domains (1) summary
    smart00330
    Location:73413
    PIPKc; Phosphatidylinositol phosphate kinases
  15. XM_011510049.3XP_011508351.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

    See identical proteins and their annotated locations for XP_011508351.1

    Conserved Domains (1) summary
    smart00330
    Location:73413
    PIPKc; Phosphatidylinositol phosphate kinases
  16. XM_005245530.5XP_005245587.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10

    Conserved Domains (1) summary
    smart00330
    Location:101441
    PIPKc; Phosphatidylinositol phosphate kinases
  17. XM_011510045.3XP_011508347.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X11

    Conserved Domains (1) summary
    smart00330
    Location:100440
    PIPKc; Phosphatidylinositol phosphate kinases
  18. XM_024450131.1XP_024305899.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X14

    Conserved Domains (1) summary
    smart00330
    Location:61401
    PIPKc; Phosphatidylinositol phosphate kinases
  19. XM_017002441.2XP_016857930.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

    Conserved Domains (1) summary
    smart00330
    Location:73413
    PIPKc; Phosphatidylinositol phosphate kinases
  20. XM_011510048.3XP_011508350.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

    See identical proteins and their annotated locations for XP_011508350.1

    Conserved Domains (1) summary
    smart00330
    Location:73413
    PIPKc; Phosphatidylinositol phosphate kinases
Support Center