SHPK
gene geneOn this page
Also known as SHK
Summary
SHPK (sedoheptulokinase, HGNC:1492) is a protein-coding gene on chromosome 17p13.2, encoding Sedoheptulokinase (Q9UHJ6). Acts as a modulator of macrophage activation through control of glucose metabolism.
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.
Source: NCBI Gene 23729 — RefSeq curated summary.
At a glance
- Gene–disease (curated): isolated sedoheptulokinase deficiency (Moderate, GenCC)
- Clinical variants (ClinVar): 219 total
- Phenotypes (HPO): 30
- MANE Select transcript:
NM_013276
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1492 |
| Approved symbol | SHPK |
| Name | sedoheptulokinase |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SHK |
| Ensembl gene | ENSG00000197417 |
| Ensembl biotype | protein_coding |
| OMIM | 605060 |
| Entrez | 23729 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000225519
RefSeq mRNA: 1 — MANE Select: NM_013276
NM_013276
CCDS: CCDS11030
Canonical transcript exons
ENST00000225519 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001196861 | 3608240 | 3610972 |
| ENSE00001196867 | 3636052 | 3636250 |
| ENSE00003532999 | 3624048 | 3624231 |
| ENSE00003572285 | 3623339 | 3623491 |
| ENSE00003577256 | 3630205 | 3630346 |
| ENSE00003591891 | 3621237 | 3621412 |
| ENSE00003629913 | 3615337 | 3615537 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 84.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2473 / max 114.5880, expressed in 1756 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163854 | 5.3387 | 1671 |
| 163855 | 3.9086 | 1536 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 84.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.57 | gold quality |
| liver | UBERON:0002107 | 81.98 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 81.70 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.44 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.35 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.29 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.21 | gold quality |
| adrenal cortex | UBERON:0001235 | 79.65 | gold quality |
| ventricular zone | UBERON:0003053 | 79.48 | gold quality |
| body of pancreas | UBERON:0001150 | 79.26 | gold quality |
| adrenal gland | UBERON:0002369 | 79.17 | gold quality |
| body of stomach | UBERON:0001161 | 78.80 | gold quality |
| skin of leg | UBERON:0001511 | 78.77 | gold quality |
| hair follicle | UBERON:0002073 | 78.68 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.50 | gold quality |
| esophagus mucosa | UBERON:0002469 | 78.41 | gold quality |
| ectocervix | UBERON:0012249 | 78.19 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 78.13 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.04 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 78.00 | gold quality |
| jejunal mucosa | UBERON:0000399 | 77.99 | silver quality |
| metanephros cortex | UBERON:0010533 | 77.98 | gold quality |
| mucosa of stomach | UBERON:0001199 | 77.97 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.88 | gold quality |
| pancreas | UBERON:0001264 | 77.85 | gold quality |
| endothelial cell | CL:0000115 | 77.82 | silver quality |
| right uterine tube | UBERON:0001302 | 77.82 | gold quality |
| cerebellar vermis | UBERON:0004720 | 77.80 | gold quality |
| duodenum | UBERON:0002114 | 77.63 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.25 |
| E-MTAB-6142 | no | 141.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting SHPK, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-6513-5P | 99.43 | 67.81 | 1071 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-532-3P | 99.34 | 65.76 | 1195 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
| HSA-MIR-128-2-5P | 99.33 | 60.83 | 311 |
Literature-anchored findings (GeneRIF, showing 2)
- 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 (PMID:18186520)
- CARKL-dependent metabolic reprogramming is required for proper M1- and M2-like macrophage polarization (PMID:22682222)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | shpk | ENSDARG00000002355 |
| mus_musculus | Shpk | ENSMUSG00000005951 |
| rattus_norvegicus | Shpk | ENSRNOG00000019458 |
Paralogs (6): XYLB (ENSG00000093217), FGGY (ENSG00000172456), GK5 (ENSG00000175066), GK2 (ENSG00000196475), GK (ENSG00000198814), GK3 (ENSG00000229894)
Protein
Protein identifiers
Sedoheptulokinase — Q9UHJ6 (reviewed: Q9UHJ6)
Alternative names: Carbohydrate kinase-like protein
All UniProt accessions (1): Q9UHJ6
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a modulator of macrophage activation through control of glucose metabolism.
Subcellular location. Cytoplasm.
Tissue specificity. Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain.
Disease relevance. Sedoheptulokinase deficiency (SHPKD) [MIM:617213] An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear. The disease is caused by variants affecting the gene represented in this entry.
Induction. Down-regulated by LPS.
Similarity. Belongs to the FGGY kinase family.
RefSeq proteins (1): NP_037408* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018484 | FGGY_N | Domain |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00370
Enzyme classification (BRENDA):
- EC 2.7.1.14 — sedoheptulokinase (BRENDA: 4 organisms, 5 substrates, 5 inhibitors, 1 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| SEDOHEPTULOSE | 0.19 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- sedoheptulose + ATP = D-sedoheptulose 7-phosphate + ADP + H(+) (RHEA:23844)
UniProt features (4 total): sequence variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHJ6-F1 | 94.25 | 0.88 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-71336 | Pentose phosphate pathway |
| R-HSA-1430728 | Metabolism |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 176 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_INTERLEUKIN_4, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_NADPPLUS_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_MACROPHAGE_ACTIVATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_GLUCOSE_6_PHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_MYELOID_LEUKOCYTE_ACTIVATION
GO Biological Process (9): carbohydrate metabolic process (GO:0005975), pentose-phosphate shunt (GO:0006098), pentose-phosphate shunt, non-oxidative branch (GO:0009052), phosphorylation (GO:0016310), cellular response to interleukin-13 (GO:0035963), regulation of macrophage activation (GO:0043030), regulation of inflammatory response (GO:0050727), cellular response to lipopolysaccharide (GO:0071222), cellular response to interleukin-4 (GO:0071353)
GO Molecular Function (6): ATP binding (GO:0005524), sedoheptulokinase activity (GO:0050277), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to cytokine stimulus | 2 |
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| NADPH regeneration | 1 |
| pentose-phosphate shunt, oxidative branch | 1 |
| pentose-phosphate shunt, non-oxidative branch | 1 |
| glucose 6-phosphate metabolic process | 1 |
| D-ribulose-phosphate 3-epimerase activity | 1 |
| ribose-5-phosphate isomerase activity | 1 |
| transaldolase activity | 1 |
| transketolase activity | 1 |
| generation of precursor metabolites and energy | 1 |
| pentose-phosphate shunt | 1 |
| glyceraldehyde-3-phosphate metabolic process | 1 |
| phosphate-containing compound metabolic process | 1 |
| response to interleukin-13 | 1 |
| regulation of leukocyte activation | 1 |
| macrophage activation | 1 |
| inflammatory response | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| response to lipopolysaccharide | 1 |
| cellular response to molecule of bacterial origin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to interleukin-4 | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2077 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SHPK | CTNS | O60931 | 976 |
| SHPK | KCNA3 | P22001 | 952 |
| SHPK | FGGY | Q96C11 | 878 |
| SHPK | KCNA1 | Q09470 | 792 |
| SHPK | KCNN4 | O15554 | 726 |
| SHPK | KCNA6 | P17658 | 716 |
| SHPK | KCNA2 | P16389 | 600 |
| SHPK | KCNC2 | Q96PR1 | 577 |
| SHPK | KCNC4 | Q03721 | 557 |
| SHPK | SPATA22 | Q8NHS9 | 506 |
| SHPK | ASPA | P45381 | 487 |
| SHPK | SYK | P43405 | 439 |
| SHPK | TRPV1 | Q8NER1 | 433 |
| SHPK | HARBI1 | Q96MB7 | 433 |
| SHPK | KCNA7 | Q96RP8 | 432 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| THYN1 | SHPK | psi-mi:“MI:0915”(physical association) | 0.590 |
| SHPK | TRAF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NR2F2 | GC | psi-mi:“MI:0914”(association) | 0.530 |
| HYCC1 | GC | psi-mi:“MI:0914”(association) | 0.530 |
| TCF25 | BCKDHB | psi-mi:“MI:0914”(association) | 0.530 |
| RAB6B | RAB6A | psi-mi:“MI:0914”(association) | 0.530 |
| FAM219A | OBSL1 | psi-mi:“MI:0914”(association) | 0.530 |
| BTBD9 | SHPK | psi-mi:“MI:0915”(physical association) | 0.400 |
| PSMF1 | SHPK | psi-mi:“MI:0915”(physical association) | 0.400 |
| MDM2 | SHPK | psi-mi:“MI:0915”(physical association) | 0.370 |
| GATD1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TCF25 | AMD1 | psi-mi:“MI:0914”(association) | 0.350 |
| LINC01587 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| MCOLN2 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| GATD1 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC8E | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM219A | NBN | psi-mi:“MI:0914”(association) | 0.350 |
| SHPK | LRP4 | psi-mi:“MI:0914”(association) | 0.350 |
| NFATC1 | OBSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PAAT | HIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| TCF25 | BCKDHA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (38): SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), TRAF3 (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-MS), SHPK (Affinity Capture-RNA), SHPK (Affinity Capture-RNA), LRP4 (Affinity Capture-MS), SHPK (Affinity Capture-MS)
ESM2 similar proteins: A0JPE9, A2AJL3, A2VD33, O46504, O75191, P12276, P12785, P13439, P17256, P19096, P31754, Q08D86, Q0IH28, Q0VFE7, Q3MIF4, Q3SYZ6, Q3TNA1, Q4V831, Q4V9P6, Q503J2, Q566S6, Q5M7T9, Q5R979, Q5RFE6, Q5U5V2, Q5XH07, Q5XIG6, Q5ZMJ4, Q64FG0, Q68FH4, Q6DCD1, Q6DH69, Q6GMR7, Q6GP95, Q6NUM9, Q6NUW9, Q6ZS86, Q71SP7, Q7TSQ8, Q80SY6
Diamond homologs: Q9D5J6, Q9UHJ6
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SHPK | “down-regulates quantity” | sedoheptulose | “chemical modification” |
| SHPK | “up-regulates quantity” | “sedoheptulose 7-phosphate” | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
219 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 128 |
| Likely benign | 70 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1511 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:3610973:C:CC | acceptor_gain | 1.0000 |
| 17:3615538:C:CC | acceptor_gain | 1.0000 |
| 17:3623333:ACTC:A | donor_loss | 1.0000 |
| 17:3623335:TCAC:T | donor_loss | 1.0000 |
| 17:3623336:CA:C | donor_loss | 1.0000 |
| 17:3623337:A:AC | donor_gain | 1.0000 |
| 17:3623337:ACGT:A | donor_gain | 1.0000 |
| 17:3623338:C:CT | donor_gain | 1.0000 |
| 17:3623338:CG:C | donor_gain | 1.0000 |
| 17:3623338:CGT:C | donor_gain | 1.0000 |
| 17:3623338:CGTC:C | donor_gain | 1.0000 |
| 17:3623338:CGTCT:C | donor_gain | 1.0000 |
| 17:3623487:CTGGG:C | acceptor_gain | 1.0000 |
| 17:3623488:TGGG:T | acceptor_gain | 1.0000 |
| 17:3623492:C:CC | acceptor_gain | 1.0000 |
| 17:3623500:C:CT | acceptor_gain | 1.0000 |
| 17:3623501:A:AC | acceptor_gain | 1.0000 |
| 17:3623501:A:C | acceptor_gain | 1.0000 |
| 17:3623505:C:CT | acceptor_gain | 1.0000 |
| 17:3623505:C:T | acceptor_gain | 1.0000 |
| 17:3623506:A:T | acceptor_gain | 1.0000 |
| 17:3636047:CTCA:C | donor_loss | 1.0000 |
| 17:3636048:TCAC:T | donor_loss | 1.0000 |
| 17:3636049:CAC:C | donor_loss | 1.0000 |
| 17:3636049:CACCT:C | donor_loss | 1.0000 |
| 17:3636050:A:AC | donor_gain | 1.0000 |
| 17:3636050:A:C | donor_loss | 1.0000 |
| 17:3636051:C:CA | donor_loss | 1.0000 |
| 17:3636051:C:CC | donor_gain | 1.0000 |
| 17:3636051:C:G | donor_loss | 1.0000 |
AlphaMissense
3088 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:3615394:C:A | G323W | 0.996 |
| 17:3615524:G:C | S279R | 0.996 |
| 17:3615524:G:T | S279R | 0.996 |
| 17:3615526:T:G | S279R | 0.996 |
| 17:3615393:C:T | G323E | 0.995 |
| 17:3615525:C:A | S279I | 0.995 |
| 17:3610790:A:G | C403R | 0.994 |
| 17:3615352:A:G | W337R | 0.992 |
| 17:3615352:A:T | W337R | 0.992 |
| 17:3621284:T:A | D259V | 0.992 |
| 17:3623352:A:G | W212R | 0.992 |
| 17:3623352:A:T | W212R | 0.992 |
| 17:3623382:A:G | W202R | 0.992 |
| 17:3623382:A:T | W202R | 0.992 |
| 17:3610796:C:G | A401P | 0.991 |
| 17:3624163:A:G | W127R | 0.991 |
| 17:3624163:A:T | W127R | 0.991 |
| 17:3615395:G:C | N322K | 0.990 |
| 17:3615395:G:T | N322K | 0.990 |
| 17:3610686:A:C | N437K | 0.989 |
| 17:3610686:A:T | N437K | 0.989 |
| 17:3615393:C:A | G323V | 0.989 |
| 17:3615519:G:C | S281W | 0.989 |
| 17:3615530:G:C | N277K | 0.989 |
| 17:3615530:G:T | N277K | 0.989 |
| 17:3621284:T:G | D259A | 0.989 |
| 17:3610705:C:T | G431E | 0.988 |
| 17:3623383:G:C | S201R | 0.988 |
| 17:3623383:G:T | S201R | 0.988 |
| 17:3623385:T:G | S201R | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000003826 (17:3615989 G>A), RS1000155941 (17:3638234 T>G), RS1000167461 (17:3632186 A>C,G), RS1000241774 (17:3621873 G>A,T), RS1000597128 (17:3634153 C>T), RS1000718405 (17:3625317 G>A), RS1000819477 (17:3630648 C>T), RS1001005127 (17:3614986 A>G), RS1001051095 (17:3634397 C>A), RS1001270573 (17:3631977 T>C), RS1001302488 (17:3613977 G>A), RS1001310885 (17:3633874 T>A), RS1001343177 (17:3620102 G>T), RS1001549344 (17:3634415 C>G,T), RS1001718523 (17:3609632 T>C)
Disease associations
OMIM: gene MIM:605060 | disease phenotypes: MIM:617213
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| isolated sedoheptulokinase deficiency | Moderate | Autosomal recessive |
Mondo (1): isolated sedoheptulokinase deficiency (MONDO:0014969)
Orphanet (1): Isolated sedoheptulokinase deficiency (Orphanet:440713)
HPO phenotypes
30 total (30 of 30 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000083 | Renal insufficiency |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0000239 | Large fontanelles |
| HP:0000256 | Macrocephaly |
| HP:0000348 | High forehead |
| HP:0000586 | Shallow orbits |
| HP:0000601 | Hypotelorism |
| HP:0001371 | Flexion contracture |
| HP:0001385 | Hip dysplasia |
| HP:0001396 | Cholestasis |
| HP:0001409 | Portal hypertension |
| HP:0001540 | Diastasis recti |
| HP:0001623 | Breech presentation |
| HP:0001903 | Anemia |
| HP:0002119 | Ventriculomegaly |
| HP:0002570 | Steatorrhea |
| HP:0002611 | Cholestatic liver disease |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0004322 | Short stature |
| HP:0004840 | Hypochromic microcytic anemia |
| HP:0008850 | Severe postnatal growth retardation |
| HP:0011400 | Abnormal CNS myelination |
| HP:0011998 | Postprandial hyperglycemia |
| HP:0012115 | Hepatitis |
| HP:0012157 | Subcortical cerebral atrophy |
| HP:0012768 | Neonatal asphyxia |
| HP:0025157 | Increased urinary sedoheptulose |
| HP:0100886 | Abnormality of globe location |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| deoxynivalenol | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Lithium Chloride | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3H0 | Abcam HEK293T SHPK KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: isolated sedoheptulokinase deficiency
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): isolated sedoheptulokinase deficiency