| Tag | Content |
|---|---|
| Uniprot ID | Q2TB90; B5MDN9; Q2TB91; Q5VTC7; Q7Z373; Q8WU37; Q96EH2; Q9H5Y9; |
| Entrez ID | 80201 |
| Genbank protein ID | AAH21278.1; AAH12337.1; AAI10505.1; BAB15478.1; CAD98002.1; AAI10506.2; |
| Genbank nucleotide ID | NM_025130.3 |
| Ensembl protein ID | ENSP00000346643 |
| Ensembl nucleotide ID | ENSG00000156510 |
| Gene name | Hexokinase HKDC1 |
| Gene symbol | HKDC1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 27229527 |
| Functional description | Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other hexokinases (PubMed:30517626). Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity). |
| Sequence | MFAVHLMAFY FSKLKEDQIK KVDRFLYHMR LSDDTLLDIM RRFRAEMEKG LAKDTNPTAA 60 VKMLPTFVRA IPDGSENGEF LSLDLGGSKF RVLKVQVAEE GKRHVQMESQ FYPTPNEIIR 120 GNGTELFEYV ADCLADFMKT KDLKHKKLPL GLTFSFPCRQ TKLEEGVLLS WTKKFKARGV 180 QDTDVVSRLT KAMRRHKDMD VDILALVNDT VGTMMTCAYD DPYCEVGVII GTGTNACYME 240 DMSNIDLVEG DEGRMCINTE WGAFGDDGAL EDIRTEFDRE LDLGSLNPGK QLFEKMISGL 300 YLGELVRLIL LKMAKAGLLF GGEKSSALHT KGKIETRHVA AMEKYKEGLA NTREILVDLG 360 LEPSEADCIA VQHVCTIVSF RSANLCAAAL AAILTRLREN KKVERLRTTV GMDGTLYKIH 420 PQYPKRLHKV VRKLVPSCDV RFLLSESGST KGAAMVTAVA SRVQAQRKQI DRVLALFQLT 480 REQLVDVQAK MRAELEYGLK KKSHGLATVR MLPTYVCGLP DGTEKGKFLA LDLGGTNFRV 540 LLVKIRSGRR SVRMYNKIFA IPLEIMQGTG EELFDHIVQC IADFLDYMGL KGASLPLGFT 600 FSFPCRQMSI DKGTLIGWTK GFKATDCEGE DVVDMLREAI KRRNEFDLDI VAVVNDTVGT 660 MMTCGYEDPN CEIGLIAGTG SNMCYMEDMR NIEMVEGGEG KMCINTEWGG FGDNGCIDDI 720 WTRYDTEVDE GSLNPGKQRY EKMTSGMYLG EIVRQILIDL TKQGLLFRGQ ISERLRTRGI 780 FETKFLSQIE SDRLALLQVR RILQQLGLDS TCEDSIVVKE VCGAVSRRAA QLCGAGLAAI 840 VEKRREDQGL EHLRITVGVD GTLYKLHPHF SRILQETVKE LAPRCDVTFM LSEDGSGKGA 900 ALITAVAKRL QQAQKEN 917 |
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.