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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF SEDOHEPTULOKINASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Asphyxia Neonatorum Postnatal asphyxia HPO_DG
★☆☆☆☆
Found in Text Mining only
Cholestatic liver disease Cholestatic liver disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Cystinosis Cystinosis Pubtator 11505338 Associate
★☆☆☆☆
Found in Text Mining only
Deficiency of sedoheptulokinase Deficiency Of Sedoheptulokinase ORPHANET_DG 25647543
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deficiency of sedoheptulokinase Deficiency Of Sedoheptulokinase GENOMICS_ENGLAND_DG 27604308
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deficiency of sedoheptulokinase Deficiency Of Sedoheptulokinase CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 17984097 Associate
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35682658 Stimulate
★☆☆☆☆
Found in Text Mining only