HKDC1
entrez
80201
canonical
uniprot
Q2TB90
canonical
ensembl
ENSG00000156510
resolver
ensp
ENSP00000346643
resolver
genesymbol
HKDC1
resolver
hgnc
HGNC:23302
resolver
uniprot
B3KT70
resolver
uniprot
B5MDN9
resolver
uniprot
Q2TB91
resolver
uniprot
Q5VTC7
resolver
uniprot
Q7Z373
resolver
uniprot
Q8WU37
resolver
uniprot
Q96EH2
resolver
uniprot
Q9H5Y9
resolver
uniprot_entry
B3KT70_HUMAN
resolver
uniprot_entry
HKDC1_HUMAN
resolver
uniprot_sec
B5MDN9
resolver
uniprot_sec
Q2TB91
resolver
uniprot_sec
Q5VTC7
resolver
uniprot_sec
Q7Z373
resolver
uniprot_sec
Q8WU37
resolver
uniprot_sec
Q96EH2
resolver
uniprot_sec
Q9H5Y9
resolver
amino_acid_sequence
MFAVHLMAFYFSKLKEDQIKKVDRFLYHMRLSDDTLLDIMRRFRAEMEKGLAKDTNPTAAVKMLPTFVRAIPDGSENGEFLSLDLGGSKFRVLKVQVAEEGKRHVQMESQFYPTPNEIIRGNGTELFEYVADCLADFMKTKDLKHKKLPLGLTFSFPCRQTKLEEGVLLSWTKKFKARGVQDTDVVSRLTKAMRRHKDMDVDILALVNDTVGTMMTCAYDDPYCEVGVIIGTGTNACYMEDMSNIDLVEGDEGRMCINTEWGAFGDDGALEDIRTEFDRELDLGSLNPGKQLFEKMISGLYLGELVRLILLKMAKAGLLFGGEKSSALHTKGKIETRHVAAMEKYKEGLANTREILVDLGLEPSEADCIAVQHVCTIVSFRSANLCAAALAAILTRLRENKKVERLRTTVGMDGTLYKIHPQYPKRLHKVVRKLVPSCDVRFLLSESGSTKGAAMVTAVASRVQAQRKQIDRVLALFQLTREQLVDVQAKMRAELEYGLKKKSHGLATVRMLPTYVCGLPDGTEKGKFLALDLGGTNFRVLLVKIRSGRRSVRMYNKIFAIPLEIMQGTGEELFDHIVQCIADFLDYMGLKGASLPLGFTFSFPCRQMSIDKGTLIGWTKGFKATDCEGEDVVDMLREAIKRRNEFDLDIVAVVNDTVGTMMTCGYEDPNCEIGLIAGTGSNMCYMEDMRNIEMVEGGEGKMCINTEWGGFGDNGCIDDIWTRYDTEVDEGSLNPGKQRYEKMTSGMYLGEIVRQILIDLTKQGLLFRGQISERLRTRGIFETKFLSQIESDRLALLQVRRILQQLGLDSTCEDSIVVKEVCGAVSRRAAQLCGAGLAAIVEKRREDQGLEHLRITVGVDGTLYKLHPHFSRILQETVKELAPRCDVTFMLSEDGSGKGAALITAVAKRLQQAQKEN
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 92 (RP92) [MIM:619614]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP92 is an autosomal recessive, mild form with onset of night blindness and vision loss in the third to sixth decades of life. {ECO:0000269|PubMed:30085091}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.1
uniprot
proteins
function
FUNCTION: 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 evidence is required to confirm this role (By similarity). {ECO:0000250|UniProtKB:Q91W97, ECO:0000269|PubMed:30517626}.
uniprot
proteins
mass_dalton
102545
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; hexose metabolism. {ECO:0000305|PubMed:30517626}.; PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4. {ECO:0000305|PubMed:30517626}.
uniprot
proteins
protein_family
Hexokinase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27459389
uniprot
proteins
pubmed
29401404
uniprot
proteins
pubmed
30085091
uniprot
proteins
pubmed
30517626
uniprot
proteins
sequence_length
917
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:30085091}. Mitochondrion membrane {ECO:0000305|PubMed:30517626}; Peripheral membrane protein {ECO:0000305}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q91W97}. Note=The mitochondrial-binding peptide (MBP) region promotes association with the mitochondrion. {ECO:0000305|PubMed:30517626}.
uniprot
proteins