SHPK sedoheptulokinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SHPKprovided by HGNC
Official Full Name: sedoheptulokinaseprovided by HGNC
Primary source: HGNC:HGNC:1492
See related: Ensembl:ENSG00000197417 MIM:605060; AllianceGenome:HGNC:1492
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: SHK; CARKL
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]
Expression: Ubiquitous expression in kidney (RPKM 7.3), duodenum (RPKM 6.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (3608240..3636250, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (3497275..3525315, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (3511534..3539544, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CARKL-dependent metabolic reprogramming is required for proper M1- and M2-like macrophage polarization
Title: The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
the CARKL-encoded protein, sedoheptulokinase (SHK), is responsible for the reaction: sedoheptulose + ATP --> sedoheptulose-7-phosphate + ADP, and deletion of CARKL causes urinary accumulation of sedoheptulose and erythritol
Title: Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Isolated sedoheptulokinase deficiency MedGen: C1291373 OMIM: 617213 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S16 (e-PCR)
- UniSTS:155756

D11S3114 (e-PCR)
- UniSTS:152207

G54293 (e-PCR)
- UniSTS:116129

G54296 (e-PCR)
- UniSTS:116132

G54325 (e-PCR)
- UniSTS:116145

GDB:335751 (e-PCR)
- UniSTS:156601

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sedoheptulokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sedoheptulokinase activity	IDA Inferred from Direct Assay more info	PubMed
enables sedoheptulokinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to interleukin-13	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interleukin-4	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in pentose-phosphate shunt	TAS Traceable Author Statement more info
involved_in pentose-phosphate shunt, non-oxidative branch	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of macrophage activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of macrophage activation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sedoheptulokinase

Names: carbohydrate kinase-like protein

NP_037408.2

EC 2.7.1.14

NCBI Reference Sequences (RefSeq)

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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.