Seroatlas · Human Serome Atlas

ITPK1

Inositol-tetrakisphosphate 1-kinase

Also known as: ITPK1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q13572
Gene: ITPK1
Ensembl: ENSG00000100605
Chromosome: 14
Canonical length: 414 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

414 residues, UniProt reviewed canonical sequence.

>Q13572|ITPK1
     1  MQTFLKGKRV GYWLSEKKIK KLNFQAFAEL CRKRGMEVVQ LNLSRPIEEQ GPLDVIIHKL
    61  TDVILEADQN DSQSLELVHR FQEYIDAHPE TIVLDPLPAI RTLLDRSKSY ELIRKIEAYM
   121  EDDRICSPPF MELTSLCGDD TMRLLEKNGL TFPFICKTRV AHGTNSHEMA IVFNQEGLNA
   181  IQPPCVVQNF INHNAVLYKV FVVGESYTVV QRPSLKNFSA GTSDRESIFF NSHNVSKPES
   241  SSVLTELDKI EGVFERPSDE VIRELSRALR QALGVSLFGI DIIINNQTGQ HAVIDINAFP
   301  GYEGVSEFFT DLLNHIATVL QGQSTAMAAT GDVALLRHSK LLAEPAGGLV GERTCSASPG
   361  CCGSMMGQDA PWKAEADAGG TAKLPHQRLG CNAGVSPSFQ QHCVASLATK ASSQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ITPK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 191 nTPM

Expression across tissuesHPA

Tissue

hippocampal formation: 191 nTPM
spinal cord: 189 nTPM
basal ganglia: 188 nTPM
cerebral cortex: 184 nTPM
amygdala: 169 nTPM
midbrain: 168 nTPM

Single-cell type

renal collecting duct principal cells: 184 nCPM
bergmann glia: 163 nCPM
renal collecting duct intercalated cells: 127 nCPM
renal connecting tubule cells: 89 nCPM
oligodendrocytes: 89 nCPM
choroid plexus epithelial cells: 82 nCPM

Immune cell

neutrophil: 43 nTPM
non-classical monocyte: 26 nTPM
eosinophil: 18 nTPM
intermediate monocyte: 15 nTPM
classical monocyte: 9.8 nTPM
myeloid DC: 7 nTPM

Brain region

basal ganglia: 150 nTPM
white matter: 140 nTPM
thalamus: 140 nTPM
midbrain: 130 nTPM
hippocampal formation: 123 nTPM
cerebral cortex: 120 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.24
gnomAD pLI: 0.99
gnomAD missense Z: 1.17
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ATP binding
catalytic activity
hydrolase activity
inositol-1,3,4,5-tetrakisphosphate 6-kinase activity
isomerase activity
magnesium ion binding
inositol-1,3,4-trisphosphate 5-kinase activity
inositol-1,3,4-trisphosphate 6-kinase activity
inositol-3,4,5,6-tetrakisphosphate 1-kinase activity
inositol-3,4,6-trisphosphate 1-kinase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

ATP-grasp fold
Inositol-tetrakisphosphate 1-kinase
Inositol 1,3,4-trisphosphate 5/6-kinase, ATP-grasp domain
Inositol-tetrakisphosphate 1-kinase, N-terminal
Inositol 1,3,4-trisphosphate 5/6-kinase ATP-grasp domain
Inositol 1,3,4-trisphosphate 5/6-kinase pre-ATP-grasp domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ITPK1 as an antibody target. Whether an autoantibody or antibody against ITPK1 could matter depends on whether native ITPK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ITPK1 is annotated at the cell surface, where native ITPK1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ITPK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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