HKDC1 hexokinase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HKDC1provided by HGNC
Official Full Name: hexokinase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:23302
See related: Ensembl:ENSG00000156510 MIM:617221; AllianceGenome:HGNC:23302
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP92
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 prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
Expression: Biased expression in duodenum (RPKM 22.5), small intestine (RPKM 21.3) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (69220332..69267552)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (70088688..70135592)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (70980088..71027308)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HKDC1 promotes tumor immune evasion in hepatocellular carcinoma by coupling cytoskeleton to STAT1 activation and PD-L1 expression.
Title: HKDC1 promotes tumor immune evasion in hepatocellular carcinoma by coupling cytoskeleton to STAT1 activation and PD-L1 expression.
CircVMP1 promotes glycolysis and disease progression by upregulating HKDC1 in colorectal cancer.
Title: CircVMP1 promotes glycolysis and disease progression by upregulating HKDC1 in colorectal cancer.
HKDC1 in Gastric Cancer: A New Diagnostic, Prognostic Biomarker, and Novel Therapeutic Target.
Title: HKDC1 in Gastric Cancer: A New Diagnostic, Prognostic Biomarker, and Novel Therapeutic Target.
HKDC1 reprograms lipid metabolism to enhance gastric cancer metastasis and cisplatin resistance via forming a ribonucleoprotein complex.
Title: HKDC1 reprograms lipid metabolism to enhance gastric cancer metastasis and cisplatin resistance via forming a ribonucleoprotein complex.
The HOXC-AS2/miR-876-5p/HKDC1 axis regulates endometrial cancer progression in a high glucose-related tumor microenvironment.
Title: The HOXC-AS2/miR-876-5p/HKDC1 axis regulates endometrial cancer progression in a high glucose-related tumor microenvironment.
Integrated Multiomics Reveals Glucose Use Reprogramming and Identifies a Novel Hexokinase in Alcoholic Hepatitis.
Title: Integrated Multiomics Reveals Glucose Use Reprogramming and Identifies a Novel Hexokinase in Alcoholic Hepatitis.
The Role of Hexokinase Domain Containing Protein-1 in Glucose Regulation During Pregnancy.
Title: The Role of Hexokinase Domain Containing Protein-1 in Glucose Regulation During Pregnancy.
expression in hepatocytes results in defective mitochondrial function and altered hepatocellular metabolism
Title: Hepatic HKDC1 Expression Contributes to Liver Metabolism.
Hepatic HKDC1 contributes to whole body glucose disposal, insulin sensitivity, and aspects of nutrient balance during pregnancy.
Title: Hepatic hexokinase domain containing 1 (HKDC1) improves whole body glucose tolerance and insulin sensitivity in pregnant mice.
These studies indicate that the tissues with highest HKDC1 expression were the brush border epithelium of the intestines, parts of the pancreas, and lung alveolar macrophages.
Title: Studies on the Tissue Localization of HKDC1, a Putative Novel Fifth Hexokinase, in Humans.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 92 MedGen: C5562022 OMIM: 619614 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of hexokinase domain containing 1 (HKDC1) in U-937 macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1672 (e-PCR), detects polymorphism
- UniSTS:79906

G60060 (e-PCR)
- UniSTS:137322

WI-11727 (e-PCR)
- UniSTS:38791

RH91478 (e-PCR)
- UniSTS:89570

D10S2178 (e-PCR)
- UniSTS:75753

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables fructokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucokinase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucose binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in carbohydrate phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose 6-phosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular glucose homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: hexokinase HKDC1

Names: hexokinase domain-containing protein 1; putative hexokinase HKDC1

NP_079406.4

EC 2.7.1.1

XP_011538497.1

EC 2.7.1.1

XP_047281740.1

EC 2.7.1.1

XP_054222775.1

EC 2.7.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051555.2 RefSeqGene

Range

5002..52222

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_025130.4 → NP_079406.4 hexokinase HKDC1

Status: REVIEWED

Source sequence(s)

AL596223

Consensus CDS

CCDS7288.1

UniProtKB/Swiss-Prot

B5MDN9, Q2TB90, Q2TB91, Q5VTC7, Q7Z373, Q8WU37, Q96EH2, Q9H5Y9

UniProtKB/TrEMBL

A8K4Q9

Related

ENSP00000346643.5, ENST00000354624.6

Conserved Domains (3) summary

PLN02914
Location:26 → 462

PLN02914; hexokinase

PTZ00107
Location:466 → 907

PTZ00107; hexokinase; Provisional

pfam00349
Location:21 → 219

Hexokinase_1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

69220332..69267552

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540195.3 → XP_011538497.1 hexokinase HKDC1 isoform X1

UniProtKB/TrEMBL

A8K4Q9

Conserved Domains (3) summary

PLN02914
Location:26 → 462

PLN02914; hexokinase

pfam00349
Location:469 → 666

Hexokinase_1

pfam03727
Location:672 → 738

Hexokinase_2
XM_047425784.1 → XP_047281740.1 hexokinase HKDC1 isoform X2