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PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta [ Homo sapiens (human) ]

Gene ID: 8395, updated on 21-Dec-2019

Summary

Official Symbol
PIP5K1Bprovided by HGNC
Official Full Name
phosphatidylinositol-4-phosphate 5-kinase type 1 betaprovided by HGNC
Primary source
HGNC:HGNC:8995
See related
Ensembl:ENSG00000107242 MIM:602745
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
MSS4; STM7
Expression
Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues See more
Orthologs

Genomic context

See PIP5K1B in Genome Data Viewer
Location:
9q21.11
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (68705240..69009176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71320188..71624092)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TMEM252 divergent transcript Neighboring gene uncharacterized LOC105376071 Neighboring gene dermatan sulfate epimerase pseudogene Neighboring gene adaptor related protein complex 3 subunit mu 2 pseudogene Neighboring gene family with sequence similarity 122A Neighboring gene uncharacterized LOC101927069 Neighboring gene RNA, U6 small nuclear 820, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr9.764 Neighboring gene protein kinase cAMP-activated catalytic subunit gamma

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?

Phenotypes

NHGRI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
NHGRI GWA Catalog
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol-4-phosphate 5-kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
uropod IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphatidylinositol 4-phosphate 5-kinase type-1 beta
Names
PIP5K1-beta
PIP5KIbeta
phosphatidylinositol 4-phosphate 5-kinase type I beta
protein STM-7
ptdIns(4)P-5-kinase 1 beta
type I phosphatidylinositol 4-phosphate 5-kinase beta
NP_001265182.1
NP_001362965.1
NP_001362966.1
NP_001362968.1
NP_001362969.1
NP_001362970.1
NP_003549.1
XP_005252319.1
XP_011517384.1
XP_011517385.1
XP_011517386.1
XP_016870677.1
XP_016870678.1

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_001278253.1NP_001265182.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

    See identical proteins and their annotated locations for NP_001265182.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon in the 3' end, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 2. Variants 3, 7 and 8 encode the same isoform.
    Source sequence(s)
    AK295587, CB988216, CK299479
    Consensus CDS
    CCDS65063.1
    UniProtKB/Swiss-Prot
    O14986
    Related
    ENSP00000438082.1, ENST00000541509.5
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases
  2. NM_001376036.1NP_001362965.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
  3. NM_001376037.1NP_001362966.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
  4. NM_001376039.1NP_001362968.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
  5. NM_001376040.1NP_001362969.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
  6. NM_001376041.1NP_001362970.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
  7. NM_003558.4NP_003549.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    See identical proteins and their annotated locations for NP_003549.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2). Variants 2, 4, 5 and 6 encode the same isoform.
    Source sequence(s)
    AK292734, AL354794, CB988216, CK299479, U78579
    Consensus CDS
    CCDS6624.1
    UniProtKB/Swiss-Prot
    O14986
    UniProtKB/TrEMBL
    Q7KYT6
    Related
    ENSP00000265382.2, ENST00000265382.8
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    68705240..69009176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015188.1XP_016870677.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    UniProtKB/Swiss-Prot
    O14986
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases
  2. XM_017015189.1XP_016870678.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    UniProtKB/Swiss-Prot
    O14986
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases
  3. XM_011519083.2XP_011517385.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    See identical proteins and their annotated locations for XP_011517385.1

    UniProtKB/Swiss-Prot
    O14986
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases
  4. XM_011519082.2XP_011517384.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    See identical proteins and their annotated locations for XP_011517384.1

    UniProtKB/Swiss-Prot
    O14986
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases
  5. XM_011519084.3XP_011517386.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    See identical proteins and their annotated locations for XP_011517386.1

    UniProtKB/Swiss-Prot
    O14986
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases
  6. XM_005252262.5XP_005252319.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    See identical proteins and their annotated locations for XP_005252319.1

    UniProtKB/Swiss-Prot
    O14986
    Related
    ENSP00000435778.1, ENST00000478500.3
    Conserved Domains (1) summary
    smart00330
    Location:53393
    PIPKc; Phosphatidylinositol phosphate kinases

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001031687.1: Suppressed sequence

    Description
    NM_001031687.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein and because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
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