IP6K3 inositol hexakisphosphate kinase 3 [Homo sapiens] - Gene

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Summary

Official Symbol: IP6K3provided by HGNC
Official Full Name: inositol hexakisphosphate kinase 3provided by HGNC
Primary source: HGNC:17269
Locus tag: RP11-6B20.3
See related: Ensembl:ENSG00000161896; HPRD:07381; MIM:606993; Vega:OTTHUMG00000014531
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: IHPK3; INSP6K3; MGC102928
Summary: This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

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Genomic context

Location :: 6p21.31

Sequence :: Chromosome: 6; NC_000006.11 (33689443..33714762, complement)

See IP6K3 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Common genetic variants associate with serum phosphorus concentration.

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Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
inositol hexakisphosphate 1-kinase activity	IEA Inferred from Electronic Annotation more info
inositol hexakisphosphate 3-kinase activity	IEA Inferred from Electronic Annotation more info
inositol hexakisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
inositol hexakisphosphate 6-kinase activity	IDA Inferred from Direct Assay more info	PubMed
inositol-1,4,5-trisphosphate 3-kinase activity	IEA Inferred from Electronic Annotation more info
kinase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
inositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol metabolic process	IDA Inferred from Direct Assay more info	PubMed
protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: inositol hexakisphosphate kinase 3

Names: inositol hexakisphosphate kinase 3; InsP6 kinase 3; inositol hexaphosphate kinase 3; ATP:1D-myo-inositol-hexakisphosphate phosphotransferase

NP_001136355.1

EC 2.7.4.21

NP_473452.2

EC 2.7.4.21

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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)

NM_001142883.1 → NP_001136355.1 inositol hexakisphosphate kinase 3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.

Source sequence(s)

AK289935, AL139044, BC089389

Consensus CDS

CCDS34435.1

UniProtKB/TrEMBL

A8K1M0

UniProtKB/TrEMBL

Q5TAQ4

UniProtKB/Swiss-Prot

Q96PC2

Related

ENSP00000398861, ENST00000451316

Conserved Domains (1) summary

cl12283
Location:198 – 403
Blast Score: 654

IPK; Inositol polyphosphate kinase
NM_054111.4 → NP_473452.2 inositol hexakisphosphate kinase 3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript.

Source sequence(s)

AK289935, AL139044, BC089389

Consensus CDS

CCDS34435.1

UniProtKB/TrEMBL

A8K1M0

UniProtKB/TrEMBL

Q5TAQ4

UniProtKB/Swiss-Prot

Q96PC2

Related

ENSP00000293756, OTTHUMP00000016212, ENST00000293756, OTTHUMT00000040203

Conserved Domains (1) summary

cl12283
Location:198 – 403
Blast Score: 654

IPK; Inositol polyphosphate kinase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

33689443..33714762, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

33430917..33456232, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL139044.15	CAI16459.1
genomic	CH471081.1	EAX03746.1
		EAX03747.1
		EAX03748.1
		EAX03749.1
mRNA	AF393812.1	AAL17053.1
mRNA	AK056586.2	BAB71225.2
mRNA	AK223572.1	BAD97292.1
mRNA	AK289935.1	BAF82624.1
mRNA	BC089389.1	AAH89389.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q53ER7	GenPept	UniProtKB/TrEMBL:Q53ER7
Q5TAQ4	GenPept	UniProtKB/TrEMBL:Q5TAQ4
Q96PC2.2	GenPept	UniProtKB/Swiss-Prot:Q96PC2