SHPK

Protein identityUniProt · HPA

UniProt accession

Q9UHJ6

Gene

SHPK

Ensembl

ENSG00000197417

Chromosome

17

Canonical length

478 aa

Protein class

Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

478 residues, UniProt reviewed canonical sequence.

>Q9UHJ6|SHPK
     1  MAARPITLGI DLGTTSVKAA LLRAAPDDPS GFAVLASCAR AARAEAAVES AVAGPQGREQ
    61  DVSRILQALH ECLAALPRPQ LRSVVGIGVS GQMHGVVFWK TGQGCEWTEG GITPVFEPRA
   121  VSHLVTWQDG RCSSEFLASL PQPKSHLSVA TGFGCATIFW LLKYRPEFLK SYDAAGTIHD
   181  YVVAMLCGLP RPLMSDQNAA SWGYFNTQSQ SWNVETLRSS GFPVHLLPDI AEPGSVAGRT
   241  SHMWFEIPKG TQVGVALGDL QASVYSCMAQ RTDAVLNIST SVQLAASMPS GFQPAQTPDP
   301  TAPVAYFPYF NRTYLGVAAS LNGGNVLATF VHMLVQWMAD LGLEVEESTV YSRMIQAAVQ
   361  QRDTHLTITP TVLGERHLPD QLASVTRISS SDLSLGHVTR ALCRGIVQNL HSMLPIQQLQ
   421  EWGVERVMGS GSALSRNDVL KQEVQRAFPL PMSFGQDVDA AVGAALVMLR RHLNQKES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHPK 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

23 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHPK.

Disease | AllUniProt

Conditions SHPK is implicated in, by any mechanism.

• Sedoheptulokinase deficiency (SHPKD) MIM:617213

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)

1.08

gnomAD pLI

0

gnomAD missense Z

0.47

DepMap mean gene effect

0.08

DepMap dependency class

none

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

• carbohydrate metabolic process
• cellular response to interleukin-13
• cellular response to interleukin-4
• cellular response to lipopolysaccharide
• pentose-phosphate shunt
• pentose-phosphate shunt, non-oxidative branch
• phosphorylation
• regulation of inflammatory response
• regulation of macrophage activation

Molecular functions

• ATP binding
• sedoheptulokinase activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Carbohydrate kinase FGGY, N-terminal
• ATPase, nucleotide binding domain
• FGGY family of carbohydrate kinases, N-terminal domain

KeywordsUniProt

• ATP-binding
• Cytoplasm
• Kinase
• Nucleotide-binding
• Transferase