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SHPK sedoheptulokinase [ Homo sapiens (human) ]

Gene ID: 23729, updated on 17-Jun-2019

Summary

Official Symbol
SHPKprovided by HGNC
Official Full Name
sedoheptulokinaseprovided by HGNC
Primary source
HGNC:HGNC:1492
See related
Ensembl:ENSG00000197417 MIM:605060
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

Genomic context

See SHPK in Genome Data Viewer
Location:
17p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (3608253..3636250, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3511556..3539616, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 22 Neighboring gene aspartoacylase Neighboring gene transient receptor potential cation channel subfamily V member 3 Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 pseudogene Neighboring gene uncharacterized LOC105371493 Neighboring gene uncharacterized LOC105371492 Neighboring gene cystinosin, lysosomal cystine transporter

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32478

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
sedoheptulokinase
Names
carbohydrate kinase-like protein
NP_037408.2

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.

Genomic

  1. NG_052852.1 RefSeqGene

    Range
    5001..33061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013276.3NP_037408.2  sedoheptulokinase

    See identical proteins and their annotated locations for NP_037408.2

    Status: REVIEWED

    Source sequence(s)
    AC027796, AF163573, BC020543
    Consensus CDS
    CCDS11030.1
    UniProtKB/Swiss-Prot
    Q9UHJ6
    UniProtKB/TrEMBL
    A0A0B4J2A0
    Related
    ENSP00000225519.3, ENST00000225519.3
    Conserved Domains (1) summary
    cd07777
    Location:5468
    FGGY_SHK_like; sedoheptulokinase-like proteins; a subfamily of the FGGY family of carbohydrate kinases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    3608253..3636250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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