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ITPK1 inositol-tetrakisphosphate 1-kinase [ Homo sapiens (human) ]

Gene ID: 3705, updated on 14-Jun-2018
Official Symbol
ITPK1provided by HGNC
Official Full Name
inositol-tetrakisphosphate 1-kinaseprovided by HGNC
Primary source
HGNC:HGNC:6177
See related
Ensembl:ENSG00000100605 MIM:601838; Vega:OTTHUMG00000171226
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
ITRPK1
Summary
This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues See more
Orthologs
See ITPK1 in Genome Data Viewer
Location:
14q32.12
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (92936914..93115919, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93403259..93582263, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2287 Neighboring gene chromogranin A Neighboring gene ITPK1 antisense RNA 1 Neighboring gene cytochrome b5 type A pseudogene 3 Neighboring gene modulator of apoptosis 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Genome-wide association study link novel loci to endometriosis.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
inositol tetrakisphosphate 1-kinase activity EXP
Inferred from Experiment
more info
PubMed 
inositol tetrakisphosphate 1-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol tetrakisphosphate 1-kinase activity TAS
Traceable Author Statement
more info
 
inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol-1,3,4-trisphosphate 5-kinase activity EXP
Inferred from Experiment
more info
PubMed 
inositol-1,3,4-trisphosphate 5-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol-1,3,4-trisphosphate 5-kinase activity TAS
Traceable Author Statement
more info
 
inositol-1,3,4-trisphosphate 6-kinase activity EXP
Inferred from Experiment
more info
PubMed 
inositol-1,3,4-trisphosphate 6-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol-1,3,4-trisphosphate 6-kinase activity TAS
Traceable Author Statement
more info
 
inositol-3,4,6-trisphosphate 1-kinase activity TAS
Traceable Author Statement
more info
 
isomerase activity IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
inositol phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol trisphosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
inositol-tetrakisphosphate 1-kinase
Names
inositol 1,3,4-trisphosphate 5/6-kinase
ins(1,3,4)P(3) 5/6-kinase
NP_001136065.1
NP_001136066.1
NP_055031.2
XP_016876751.1
XP_016876752.1
XP_016876753.1
XP_024305344.1

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_051071.1 RefSeqGene

    Range
    5001..181197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142593.2NP_001136065.1  inositol-tetrakisphosphate 1-kinase isoform a

    See identical proteins and their annotated locations for NP_001136065.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice pattern in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AA770154, AF279372, BC018192, BX407816, BX420122, U51336
    Consensus CDS
    CCDS9907.1
    UniProtKB/Swiss-Prot
    Q13572
    UniProtKB/TrEMBL
    A0A024R6H3
    Related
    ENSP00000451091.1, OTTHUMP00000245497, ENST00000556603.6, OTTHUMT00000412419
    Conserved Domains (1) summary
    pfam05770
    Location:1318
    Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase
  2. NM_001142594.2NP_001136066.1  inositol-tetrakisphosphate 1-kinase isoform b

    See identical proteins and their annotated locations for NP_001136066.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL117192, BC003622, BX407816, BX420122
    Consensus CDS
    CCDS45157.1
    UniProtKB/Swiss-Prot
    Q13572
    Related
    ENSP00000346272.3, OTTHUMP00000245496, ENST00000354313.7, OTTHUMT00000412418
    Conserved Domains (1) summary
    cl17255
    Location:1301
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  3. NM_001363707.1NP_001350636.1  inositol-tetrakisphosphate 1-kinase isoform c

    Status: REVIEWED

    Source sequence(s)
    AL117192
    Consensus CDS
    CCDS86425.1
  4. NM_014216.5NP_055031.2  inositol-tetrakisphosphate 1-kinase isoform a

    See identical proteins and their annotated locations for NP_055031.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AA770154, AF279372, BC018192, BX407816, BX420122
    Consensus CDS
    CCDS9907.1
    UniProtKB/Swiss-Prot
    Q13572
    UniProtKB/TrEMBL
    A0A024R6H3
    Related
    ENSP00000267615.5, OTTHUMP00000245499, ENST00000267615.10, OTTHUMT00000412421
    Conserved Domains (1) summary
    pfam05770
    Location:1318
    Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    92936914..93115919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021264.1XP_016876753.1  inositol-tetrakisphosphate 1-kinase isoform X3

    Related
    OTTHUMP00000245498, OTTHUMT00000412420
  2. XM_017021263.1XP_016876752.1  inositol-tetrakisphosphate 1-kinase isoform X3

  3. XM_024449576.1XP_024305344.1  inositol-tetrakisphosphate 1-kinase isoform X2

    Related
    ENSP00000451893.1, ENST00000555495.5
    Conserved Domains (1) summary
    cl17255
    Location:1199
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  4. XM_017021262.1XP_016876751.1  inositol-tetrakisphosphate 1-kinase isoform X1

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    51476..230481 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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