SHPK

GENE INFORMATION

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Gene name

SHPK (HGNC Symbol)

Synonyms

CARKL, SHK

Description

Sedoheptulokinase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

17

Cytoband

p13.2

Chromosome location (bp)

3608262 - 3636322

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197417 (version 78.38)

Entrez gene

23729

UniProt

Q9UHJ6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHJ6

Antibodypedia

SHPK antibodies
 

PROTEIN VIEW

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SHPK-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SHPK-001 ENSP00000225519
ENST00000225519
Q9UHJ6
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