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

Gene ID: 8395, updated on 5-Aug-2022

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; AllianceGenome:HGNC:8995
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
Summary
Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in regulation of phosphatidylinositol 3-kinase signaling. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues See more
Orthologs
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Genomic context

See PIP5K1B in Genome Data Viewer
Location:
9q21.11
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68705240..69009176)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80878758..81182716)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71320156..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 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 Neighboring gene uncharacterized LOC101927069 Neighboring gene RNA, U6 small nuclear 820, pseudogene Neighboring gene Sharpr-MPRA regulatory region 10428 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

EBI GWAS Catalog

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

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 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 phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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_011517386.1
XP_016870677.1
XP_016870678.1
XP_047279907.1
XP_047279908.1

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_001278253.2NP_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, AL354794, CB988216, CK299479
    Consensus CDS
    CCDS65063.1
    UniProtKB/Swiss-Prot
    O14986
    Related
    ENSP00000438082.1, ENST00000541509.5
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  2. NM_001376036.1NP_001362965.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
    UniProtKB/Swiss-Prot
    Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  3. NM_001376037.1NP_001362966.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
    UniProtKB/Swiss-Prot
    Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  4. NM_001376039.1NP_001362968.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
    UniProtKB/Swiss-Prot
    Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  5. NM_001376040.1NP_001362969.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  6. NM_001376041.1NP_001362970.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL162730, AL354794, AL356219
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  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, Q92749
    UniProtKB/TrEMBL
    Q7KYT6
    Related
    ENSP00000265382.2, ENST00000265382.8
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017015189.2XP_016870678.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    UniProtKB/Swiss-Prot
    O14986, Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  2. XM_047423951.1XP_047279907.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    UniProtKB/Swiss-Prot
    Q92749
  3. XM_047423952.1XP_047279908.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    UniProtKB/Swiss-Prot
    Q92749
  4. XM_017015188.2XP_016870677.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    UniProtKB/Swiss-Prot
    O14986, Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  5. XM_011519082.3XP_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, Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  6. XM_011519084.4XP_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, Q92749
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
  7. XM_005252262.6XP_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, Q92749
    Related
    ENSP00000435778.1, ENST00000478500.3
    Conserved Domains (1) summary
    cd17307
    Location:27400
    PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    80878758..81182716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.