Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23729
Gene name Gene Name - the full gene name approved by the HGNC.
Sedoheptulokinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHPK
Synonyms (NCBI Gene) Gene synonyms aliases
CARKL, SHK
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm ISS
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005975 Process Carbohydrate metabolic process IDA 19413330
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605060 1492 ENSG00000197417
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Microcytic hypochromic anemia (disorder) rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Renal insufficiency Renal Insufficiency rs1596536873
Unknown
Disease term Disease name Evidence References Source
Isolated sedoheptulokinase deficiency Isolated sedoheptulokinase deficiency ClinVar
Isolated Sedoheptulokinase Deficiency isolated sedoheptulokinase deficiency GenCC
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cystinosis Associate 11505338
Diabetes Mellitus Type 1 Associate 17984097
Glioblastoma Stimulate 35682658
Multiple Sclerosis Inhibit 17984097
Neoplasms Associate 35682658