Gene Gene information from NCBI Gene database.
Entrez ID 23729
Gene name Sedoheptulokinase
Gene symbol SHPK
Synonyms (NCBI Gene)
CARKLSHK
Chromosome 17
Chromosome location 17p13.2
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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs144071313 G>A,C Affects Coding sequence variant, missense variant, stop gained
rs748544120 C>A,G,T Affects Coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
459
miRTarBase ID miRNA Experiments Reference
MIRT022509 hsa-miR-124-3p Microarray 18668037
MIRT039817 hsa-miR-615-3p CLASH 23622248
MIRT039817 hsa-miR-615-3p CLASH 23622248
MIRT638050 hsa-miR-452-5p HITS-CLIP 23824327
MIRT638049 hsa-miR-4676-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605060 1492 ENSG00000197417
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHJ6
Protein name Sedoheptulokinase (SHK) (EC 2.7.1.14) (Carbohydrate kinase-like protein)
Protein function Acts as a modulator of macrophage activation through control of glucose metabolism.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00370 FGGY_N 6 265 FGGY family of carbohydrate kinases, N-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain. {ECO:0000269|PubMed:10673275}.
Sequence
MAARPITLGIDLGTTSVKAALLRAAPDDPSGFAVLASCARAARAEAAVESAVAGPQGREQ
DVSRILQALHECLAALPRPQLRSVVGIGVSGQMHGVVFWKTGQGCEWTEGGITPVFEPRA
VSHLVTWQDGRCSSEFLASLPQPKSHLSVATGFGCATIFWLLKYRPEFLKSYDAAGTIHD
YVVAMLCGLPRPLMSDQNAASWGYFNTQSQSWNVETLRSSGFPVHLLPDIAEPGSVAGRT
SHMWFEIPKGTQVGVALGDLQASVY
SCMAQRTDAVLNISTSVQLAASMPSGFQPAQTPDP
TAPVAYFPYFNRTYLGVAASLNGGNVLATFVHMLVQWMADLGLEVEESTVYSRMIQAAVQ
QRDTHLTITPTVLGERHLPDQLASVTRISSSDLSLGHVTRALCRGIVQNLHSMLPIQQLQ
DWGVERVMGSGSALSRNDVLKQEVQRAFPLPMSFGQDVDAAVGAALVMLRRHLNQKES
Sequence length 478
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pentose phosphate pathway
Metabolic pathways
  Pentose phosphate pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs199926876 RCV005932091
Cholangiocarcinoma Benign rs150857 RCV005914209
Familial cancer of breast Conflicting classifications of pathogenicity rs141166207 RCV005926621
Isolated sedoheptulokinase deficiency Benign; Likely benign; Uncertain significance; Affects rs140922564, rs144071313, rs748544120 RCV002476831
RCV000412581
RCV000412642
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cystinosis Associate 11505338
Diabetes Mellitus Type 1 Associate 17984097
Glioblastoma Stimulate 35682658
Multiple Sclerosis Inhibit 17984097
Neoplasms Associate 35682658