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

Gene ID: 3705, updated on 26-May-2016
Official Symbol
ITPK1provided by HGNC
Official Full Name
inositol-tetrakisphosphate 1-kinaseprovided by HGNC
Primary source
HGNC:HGNC:6177
See related
Ensembl:ENSG00000100605 HPRD:03501; MIM:601838; Vega:OTTHUMG00000171226
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
ITRPK1
Orthologs
Location:
14q31
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (92936914..93115918, 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 uncharacterized LOC101929002 Neighboring gene chromogranin A Neighboring gene ITPK1 antisense RNA 1 Neighboring gene cytochrome b5 type A (microsomal) pseudogene 3 Neighboring gene modulator of apoptosis 1

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

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 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
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
inositol-tetrakisphosphate 1-kinase
Names
inositol 1,3,4-triphosphate 5/6 kinase
inositol 1,3,4-trisphosphate 5/6 kinase
inositol 1,3,4-trisphosphate 5/6-kinase
inositol-triphosphate 5/6-kinase
ins(1,3,4)P(3) 5/6-kinase
NP_001136065.1
NP_001136066.1
NP_055031.2

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_001142593.1NP_001136065.1  inositol-tetrakisphosphate 1-kinase isoform a

    See identical proteins and their annotated locations for NP_001136065.1

    Status: VALIDATED

    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, BX420122, U51336
    Consensus CDS
    CCDS9907.1
    UniProtKB/Swiss-Prot
    Q13572
    UniProtKB/TrEMBL
    A0A024R6H3
    Related
    ENSP00000451091, OTTHUMP00000245497, ENST00000556603, OTTHUMT00000412419
    Conserved Domains (1) summary
    pfam05770
    Location:1318
    Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase
  2. NM_001142594.1NP_001136066.1  inositol-tetrakisphosphate 1-kinase isoform b

    See identical proteins and their annotated locations for NP_001136066.1

    Status: VALIDATED

    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, BX420122
    Consensus CDS
    CCDS45157.1
    UniProtKB/Swiss-Prot
    Q13572
    Related
    ENSP00000346272, OTTHUMP00000245496, ENST00000354313, OTTHUMT00000412418
    Conserved Domains (1) summary
    cl17255
    Location:1301
    ATP-grasp_4; ATP-grasp domain
  3. NM_014216.4NP_055031.2  inositol-tetrakisphosphate 1-kinase isoform a

    See identical proteins and their annotated locations for NP_055031.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AA770154, AF279372, BC018192, BX420122
    Consensus CDS
    CCDS9907.1
    UniProtKB/Swiss-Prot
    Q13572
    UniProtKB/TrEMBL
    A0A024R6H3
    Related
    ENSP00000267615, OTTHUMP00000245499, ENST00000267615, 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    92936914..93115918 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    51476..230480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    93341508..93520507 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)