| Tag | Content |
|---|---|
| Uniprot ID | Q91W97; Q3UKJ9; |
| Entrez ID | 216019 |
| Genbank protein ID | AAH16235.1; BAE26802.1; |
| Genbank nucleotide ID | NM_145419.1 |
| Ensembl protein ID | ENSMUSP00000020277 |
| Ensembl nucleotide ID | ENSMUSG00000020080 |
| Gene name | Hexokinase HKDC1 |
| Gene symbol | Hkdc1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (By similarity). Has low glucose phosphorylating activity compared to other hexokinases (By similarity). Involved in glucose homeostasis and hepatic lipid accumulation (PubMed:30543855). Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (PubMed:25648650, PubMed:27459389). |
| Sequence | MFAVHLVAFY FTKLKEDQIK KVDRFLYHMR LSDETLVDIM ARFQAEMEKG LGKDTNPTAS 60 VKMLPTFVRA IPDGSENGEF LSLDLGGSKF RVLKVQVSQE GQQNVQMESQ FYPMPNEITR 120 GNGTELFDYV ADCLADFMKT KNLTHKKLPL GFTFSFPCRQ NKLEEGVLLS WTKKFKARGV 180 QDTDVVNRLA TAMKKHKDLD VDILALVNDT VGTMMTCAYD DPNCEVGVII GTGTNACYME 240 DMSNIDLVEG DEGRMCINTE WGAFGDDGAL EDIRTEFDRE LDLGSLNPGK QLFEKMISGL 300 YMGELVRLIL LKMAKVGLLF GGAKSSALHT KGKIETQHVA AMEMSKEGLA NTREILVDLG 360 LEPSESDCIA VQHVCTIVSF RSANLCAAAL ATILTRLREN KKLARLRTTV GMDGTLYKTH 420 PQYPKRLHKV VRRLVPNCDV RFLLSESGST KGAAMVTAVA SRVQAQRKQI DKVLALFQLT 480 REQLLGVRDK MRAELEYGLK KKTHSLATVK MLPTYVYGMP DGTEKGKFLA LDLGGTNFRV 540 LLVKIRRRSV RMYNKIFAIP LEIMQGTGEE LFDHIVQCIA DFLDYMGLKG AQLPLGFTFS 600 FPCRQTCIDK GTLVGWTKGF KATDCEGEDV VDMLREAIKR RNEFDLDIVA IVNDTVGTMM 660 TCGYEDPRCE IGLIAGTGSN VCYMEEMRNI ELVDGDEGRM CVNTEWGGFG DNGCIDDIRT 720 QYDKEVDEGS LNAGKQRYEK MTSGMYLGEI VRRILIDLTR QGLLFRGQIS ERLRTRGIFE 780 TKFLSQIESD RLALLQVRRI LQQLGLDSTC EDSIVVKEVC GAVSRRAAQM CGAGMAAIVE 840 KRREDQGLQH FKVTVGVDGT LYKLHPHFSR ILQETVKELA PQCDVTFMLS EDGSGKGAAL 900 ITAVAKRLQQ PRKDI 915 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | HKDC1 | 489019 | J9JHN0 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | HKDC1 | 102189736 | A0A452E4U0 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | HKDC1 | 100072686 | A0A3Q2HML6 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | HKDC1 | 80201 | Q2TB90 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Hkdc1 | 216019 | Q91W97 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | HKDC1 | 450504 | H2Q205 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | HKDC1 | F1SUF3 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | HKDC1 | 100345105 | G1SMV5 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | M0R3X7 | Rattus norvegicus | Prediction | More>> | ||||
| 1:1 ortholog | hkdc1 | 321224 | B8A5H6 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| HKDC1 | rs201518882C>T; p.Arg768* | WES and Sanger sequencing | 27229527 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004340 | glucokinase activity | ISS |
| GO:0004340 | glucokinase activity | ISO |
| GO:0004340 | glucokinase activity | IBA |
| GO:0005524 | ATP binding | IEA |
| GO:0005536 | glucose binding | IEA |
| GO:0008865 | fructokinase activity | IBA |
| GO:0019158 | mannokinase activity | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001678 | cellular glucose homeostasis | ISO |
| GO:0001678 | cellular glucose homeostasis | IBA |
| GO:0001678 | cellular glucose homeostasis | IMP |
| GO:0006096 | glycolytic process | IEA |
| GO:0006096 | glycolytic process | IBA |
| GO:0019318 | hexose metabolic process | IEA |
| GO:0046835 | carbohydrate phosphorylation | IEA |
| GO:0051156 | glucose 6-phosphate metabolic process | ISS |
| GO:0051156 | glucose 6-phosphate metabolic process | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005623 | cell | IEA |
| GO:0005739 | mitochondrion | ISS |
| GO:0005739 | mitochondrion | ISO |
| GO:0005829 | cytosol | IBA |
| GO:0031966 | mitochondrial membrane | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|