Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80201
Gene name	Hexokinase domain containing 1
Gene symbol	HKDC1
Synonyms (NCBI Gene)	RP92
Chromosome	10
Chromosome location	10q22.1
Summary	This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148723879	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs200034765	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201518882	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs759709025	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022488	hsa-miR-124-3p	Microarray	18668037
MIRT1048220	hsa-miR-1264	CLIP-seq
MIRT1048221	hsa-miR-1266	CLIP-seq
MIRT1048222	hsa-miR-1287	CLIP-seq
MIRT1048223	hsa-miR-2117	CLIP-seq
MIRT1048224	hsa-miR-2277-3p	CLIP-seq
MIRT1048225	hsa-miR-3123	CLIP-seq
MIRT1048226	hsa-miR-3130-3p	CLIP-seq
MIRT1048227	hsa-miR-3183	CLIP-seq
MIRT1048228	hsa-miR-320a	CLIP-seq
MIRT1048229	hsa-miR-320b	CLIP-seq
MIRT1048230	hsa-miR-320c	CLIP-seq
MIRT1048231	hsa-miR-320d	CLIP-seq
MIRT1048232	hsa-miR-3620	CLIP-seq
MIRT1048233	hsa-miR-3622a-3p	CLIP-seq
MIRT1048234	hsa-miR-3622b-3p	CLIP-seq
MIRT1048235	hsa-miR-3652	CLIP-seq
MIRT1048236	hsa-miR-3664-3p	CLIP-seq
MIRT1048237	hsa-miR-375	CLIP-seq
MIRT1048238	hsa-miR-3925-5p	CLIP-seq
MIRT1048239	hsa-miR-3973	CLIP-seq
MIRT1048240	hsa-miR-3976	CLIP-seq
MIRT1048241	hsa-miR-4273	CLIP-seq
MIRT1048242	hsa-miR-4283	CLIP-seq
MIRT1048243	hsa-miR-4292	CLIP-seq
MIRT1048244	hsa-miR-4429	CLIP-seq
MIRT1048245	hsa-miR-4430	CLIP-seq
MIRT1048246	hsa-miR-4436a	CLIP-seq
MIRT1048247	hsa-miR-4489	CLIP-seq
MIRT1048248	hsa-miR-4492	CLIP-seq
MIRT1048249	hsa-miR-4498	CLIP-seq
MIRT1048250	hsa-miR-4499	CLIP-seq
MIRT1048251	hsa-miR-4518	CLIP-seq
MIRT1048252	hsa-miR-4677-5p	CLIP-seq
MIRT1048253	hsa-miR-4723-3p	CLIP-seq
MIRT1048254	hsa-miR-4753-3p	CLIP-seq
MIRT1048255	hsa-miR-4766-5p	CLIP-seq
MIRT1048256	hsa-miR-4793-3p	CLIP-seq
MIRT1048257	hsa-miR-520g	CLIP-seq
MIRT1048258	hsa-miR-520h	CLIP-seq
MIRT1048259	hsa-miR-762	CLIP-seq
MIRT2010966	hsa-miR-628-5p	CLIP-seq
MIRT1048221	hsa-miR-1266	CLIP-seq
MIRT2243179	hsa-miR-1294	CLIP-seq
MIRT2243180	hsa-miR-3157-5p	CLIP-seq
MIRT2243181	hsa-miR-3646	CLIP-seq
MIRT1048236	hsa-miR-3664-3p	CLIP-seq
MIRT1048246	hsa-miR-4436a	CLIP-seq
MIRT2243182	hsa-miR-4459	CLIP-seq
MIRT1048251	hsa-miR-4518	CLIP-seq
MIRT2243183	hsa-miR-4691-3p	CLIP-seq
MIRT2243184	hsa-miR-4710	CLIP-seq
MIRT2243185	hsa-miR-4772-3p	CLIP-seq
MIRT2243186	hsa-miR-4779	CLIP-seq
MIRT2243187	hsa-miR-665	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001678	Process	Intracellular glucose homeostasis	IBA
GO:0001678	Process	Intracellular glucose homeostasis	IDA	30517626
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0004340	Function	Glucokinase activity	IBA
GO:0004340	Function	Glucokinase activity	IDA	30517626
GO:0004340	Function	Glucokinase activity	IEA
GO:0004396	Function	Hexokinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005536	Function	D-glucose binding	IEA
GO:0005737	Component	Cytoplasm	IDA	30085091
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	30517626
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0008865	Function	Fructokinase activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0019318	Process	Hexose metabolic process	IEA
GO:0019637	Process	Organophosphate metabolic process	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IDA	30517626
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

MIM	HGNC	e!Ensembl
617221	23302	ENSG00000156510

Q2TB90

Protein name

Hexokinase HKDC1 (EC 2.7.1.1) (Hexokinase domain-containing protein 1)

Protein 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 gluc

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00349	Hexokinase_1	21 → 219	Hexokinase	Domain
PF03727	Hexokinase_2	225 → 459	Hexokinase	Domain
PF00349	Hexokinase_1	469 → 666	Hexokinase	Domain
PF03727	Hexokinase_2	672 → 906	Hexokinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:27459389, PubMed:29401404). Highly expressed in the brush border, surface epithelium and the myenteric plexus of the small and large intestines; the acinar centrocytes and interlobular ducts of the pancreas; an

Sequence

MFAVHLMAFYFSKLKEDQIKKVDRFLYHMRLSDDTLLDIMRRFRAEMEKGLAKDTNPTAA
VKMLPTFVRAIPDGSENGEFLSLDLGGSKFRVLKVQVAEEGKRHVQMESQFYPTPNEIIR
GNGTELFEYVADCLADFMKTKDLKHKKLPLGLTFSFPCRQTKLEEGVLLSWTKKFKARGV
QDTDVVSRLTKAMRRHKDMDVDILALVNDTVGTMMTCAYDDPYCEVGVIIGTGTNACYME
DMSNIDLVEGDEGRMCINTEWGAFGDDGALEDIRTEFDRELDLGSLNPGKQLFEKMISGL
YLGELVRLILLKMAKAGLLFGGEKSSALHTKGKIETRHVAAMEKYKEGLANTREILVDLG
LEPSEADCIAVQHVCTIVSFRSANLCAAALAAILTRLRENKKVERLRTTVGMDGTLYKIH
PQYPKRLHKVVRKLVPSCDVRFLLSESGSTKGAAMVTAVASRVQAQRKQIDRVLALFQLT
REQLVDVQAKMRAELEYGLKKKSHGLATVRMLPTYVCGLPDGTEKGKFLALDLGGTNFRV
LLVKIRSGRRSVRMYNKIFAIPLEIMQGTGEELFDHIVQCIADFLDYMGLKGASLPLGFT
FSFPCRQMSIDKGTLIGWTKGFKATDCEGEDVVDMLREAIKRRNEFDLDIVAVVNDTVGT
MMTCGYEDPNCEIGLIAGTGSNMCYMEDMRNIEMVEGGEGKMCINTEWGGFGDNGCIDDI
WTRYDTEVDEGSLNPGKQRYEKMTSGMYLGEIVRQILIDLTKQGLLFRGQISERLRTRGI
FETKFLSQIESDRLALLQVRRILQQLGLDSTCEDSIVVKEVCGAVSRRAAQLCGAGLAAI
VEKRREDQGLEHLRITVGVDGTLYKLHPHFSRILQETVKELAPRCDVTFMLSEDGSGKGA
ALITAVAKRLQQAQKEN

Sequence length

917

Interactions

View interactions

	KEGG
	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism Starch and sucrose metabolism Amino sugar and nucleotide sugar metabolism Neomycin, kanamycin and gentamicin biosynthesis Metabolic pathways Carbon metabolism Biosynthesis of nucleotide sugars HIF-1 signaling pathway Insulin signaling pathway Type II diabetes mellitus Carbohydrate digestion and absorption Shigellosis Central carbon metabolism in cancer

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nonsyndromic cleft lip palate	Likely pathogenic	rs759709025	RCV000755128
Retinitis pigmentosa 92	Likely pathogenic	rs142379141, rs2539918923, rs2539897956	RCV001779345 RCV003990493 RCV003990655
Short stature	Likely pathogenic	rs1564726619, rs148723879	RCV000736152 RCV000736153

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs139901086	RCV005932531
Keratoconus 1	Uncertain significance	rs202105296	RCV000491251
Long QT syndrome	Likely benign	rs796052175	RCV000190179

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	20732627
Carcinogenesis	Stimulate	36519789
Carcinoma Squamous Cell	Associate	33991070, 34044809
Cholangiocarcinoma	Associate	34971568
Colorectal Neoplasms	Associate	32503434
Deafness	Associate	35248088
Diabetes Gestational	Inhibit	25648650
Diabetes Mellitus	Stimulate	35485648
Diabetes Mellitus Type 2	Associate	34763315
Endometrial Neoplasms	Associate	35485648
Epstein Barr Virus Infections	Associate	33423158
GATA2 Deficiency	Associate	33423158
Hearing Loss	Associate	35248088
Keratoconus	Associate	27703147
Liver Neoplasms	Associate	34763315
Mitochondrial Diseases	Associate	33423158
Multiple Myeloma	Associate	35689754
Neoplasm Metastasis	Stimulate	36519789
Neoplasms	Associate	30005951, 33423158, 35485648
Stomach Neoplasms	Stimulate	36519789

HKDC1 (hexokinase domain containing 1)