HK1 hexokinase 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: HK1provided by HGNC
Official Full Name: hexokinase 1provided by HGNC
Primary source: HGNC:4922
See related: Ensembl:ENSG00000156515; HPRD:00809; MIM:142600; Vega:OTTHUMG00000018380
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: HKI; HXK1; HK1-ta; HK1-tb; HK1-tc
Summary: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]

Genomic context

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Location :: 10q22

Sequence :: Chromosome: 10; NC_000010.10 (71029756..71161638)

See HK1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The screening for novel Parkin substrate(s) identified mitochondrial hexokinase I (HKI) as a candidate.
Title: Mitochondrial hexokinase HKI is a novel substrate of the Parkin ubiquitin ligase.
A key K8/K18 regulation of glucose metabolism in normal and cancerous hepatic cells through differential modulations of mitochondrial hexokinase status and insulin-mediated signaling.
Title: Keratin 8/18 regulation of glucose metabolism in normal versus cancerous hepatic cells through differential modulation of hexokinase status and insulin signaling.
This study proposed that HK1 mitochondrial detachment could be linked to these disorders through impaired energy metabolism, increased vulnerability to oxidative stress, and impaired brain growth and development.
Title: Mitochondrial detachment of hexokinase 1 in mood and psychotic disorders: implications for brain energy metabolism and neurotrophic signaling.
An association is noted between the rs7072268 T-allele in HK1 and an increased blood glucose in non-diabetic individuals and a nominal association with type 2 diabetes prior to Bonferroni correction.
Title: Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes.
Abeta-induced cellular redistribution and inactivation of neuronal HKI play important roles in oxidative stress and neurodegeneration in Alzheimer's disease
Title: Amyloid-β triggers the release of neuronal hexokinase 1 from mitochondria.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Case-control genome-wide association study of attention-deficit/hyperactivity disorder.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
FimA strengthens the VDAC1-hexokinase(I and II) interaction and prevents dissociation of hexokinase from VDAC1 triggered by apoptotic stimuli.
Title: A soluble form of the pilus protein FimA targets the VDAC-hexokinase complex at mitochondria to suppress host cell apoptosis.
The comprehensive sequencing analysis and fine mapping approximately 26 kb of fully characterised sequence spanning the upstream exons of Hexokinase 1 (HK1), is reported.
Title: A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Submit: New GeneRIF Correction See all (24)

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

Hemolytic anemia due to hexokinase deficiency

MIM: 235700

Genetic Testing Registry

NHGRI GWAS Catalog

Common variants at 10 genomic loci influence hemoglobin A&#x02081;(C) levels via glycemic and nonglycemic pathways.

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P19367	P09104	ENO2	HPRD	PubMed
P19367	Q96GD3	SCMH1	HPRD	PubMed
P19367	P21796	VDAC1	HPRD	PubMed
P19367	P45880	VDAC2	HPRD	PubMed
BioGRID:109345	BioGRID:106696	AHCY	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:106710	AKT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:109345	BioGRID:120856	ARFGAP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:106927	ASL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:107776	ATF2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109345	BioGRID:121948	C12orf44	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:107274	CAPN2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:107452	CDK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:108340	ENO2	BioGRID	PubMed	Two-hybrid
BioGRID:109345	BioGRID:116456	FKBP9	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:108901	GBAS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:114738	GTF3C4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:109322	HEXA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:109323	HEXB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:110169	LIG4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109345	BioGRID:121014	NSFL1C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:111105	PARK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:121286	PARP6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:116400	PDCD10	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:114774	PLAA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:116381	PROSC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:111852	RARS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:112347	SGTA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:119602	SIRT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:113131	TUBB2A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:113135	TUFM	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:116472	TWF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:122964	UBA5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109345	BioGRID:119239	UBXN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109345	BioGRID:113259	VDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109345	BioGRID:123255	WDR61	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Amino sugar and nucleotide sugar metabolism, organism-specific biosystem (from KEGG)
Amino sugar and nucleotide sugar metabolism, organism-specific biosystem
Amino sugar and nucleotide sugar metabolism
Amino sugar and nucleotide sugar metabolism, conserved biosystem (from KEGG)
Amino sugar and nucleotide sugar metabolism, conserved biosystem
Amino sugar and nucleotide sugar metabolism
Butirosin and neomycin biosynthesis, organism-specific biosystem (from KEGG)
Butirosin and neomycin biosynthesis, organism-specific biosystem
Butirosin and neomycin biosynthesis
Butirosin and neomycin biosynthesis, conserved biosystem (from KEGG)
Butirosin and neomycin biosynthesis, conserved biosystem
Butirosin and neomycin biosynthesis
Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
Fructose and mannose metabolism, organism-specific biosystem (from KEGG)
Fructose and mannose metabolism, organism-specific biosystem
Fructose and mannose metabolism
Fructose and mannose metabolism, conserved biosystem (from KEGG)
Fructose and mannose metabolism, conserved biosystem
Fructose and mannose metabolism
Galactose metabolism, organism-specific biosystem (from KEGG)
Galactose metabolism, organism-specific biosystem
Galactose metabolism
Galactose metabolism, conserved biosystem (from KEGG)
Galactose metabolism, conserved biosystem
Galactose metabolism
Glucose transport, organism-specific biosystem (from REACTOME)
Glucose transport, organism-specific biosystemCells take up glucose by facilitated diffusion, via glucose transporters (GLUTs) associated with the plasma membrane, a reversible reaction (Joost and Thorens 2001). Four tissue-specific GLUT isoform...
Glucuronidation, organism-specific biosystem (from WikiPathways)
Glucuronidation, organism-specific biosystemMetabolism of xenobiotic compounds consists of phase I and a phase II biotransformation reactions, being compound modification and conjugation reactions respectively. In phase I biotransformation, th...
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
Glycolysis and Gluconeogenesis, organism-specific biosystem
Glycolysis and Gluconeogenesis
HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
HIF-1-alpha transcription factor network, organism-specific biosystem
HIF-1-alpha transcription factor network
Hexose transport, organism-specific biosystem (from REACTOME)
Hexose transport, organism-specific biosystemHexoses, notably fructose, glucose, and galactose, generated in the lumen of the small intestine by breakdown of dietary carbohydrate are taken up by enterocytes lining the microvilli of the small in...
Insulin signaling pathway, organism-specific biosystem (from KEGG)
Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Insulin signaling pathway, conserved biosystem (from KEGG)
Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
Nucleotide sugar biosynthesis, glucose => UDP-glucose, organism-specific biosystem (from KEGG)
Nucleotide sugar biosynthesis, glucose => UDP-glucose, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Sugar metabolism
Nucleotide sugar biosynthesis, glucose => UDP-glucose, conserved biosystem (from KEGG)
Nucleotide sugar biosynthesis, glucose => UDP-glucose, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Sugar metabolism
SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
Starch and sucrose metabolism, organism-specific biosystem
Starch and sucrose metabolism
Starch and sucrose metabolism, conserved biosystem (from KEGG)
Starch and sucrose metabolism, conserved biosystem
Starch and sucrose metabolism
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Type II diabetes mellitus, organism-specific biosystem (from KEGG)
Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
Type II diabetes mellitus, conserved biosystem (from KEGG)
Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
glycolysis, organism-specific biosystem (from BIOCYC)
glycolysis, organism-specific biosystem
glycolysis

General gene information

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Markers

STS-M75126 (e-PCR)
- UniSTS:72709

STS-W37533 (e-PCR)
- UniSTS:81180

RH80106 (e-PCR)
- UniSTS:85846

SHGC-35892 (e-PCR)
- UniSTS:27479

SHGC-153484 (e-PCR)
- UniSTS:177776

GDB:181720 (e-PCR)
- UniSTS:155332

HK1 (e-PCR)
- UniSTS:468459

HK1__6571 (e-PCR)
- UniSTS:468459

Genotypes

See HK1 SNP Geneview Report
See HK1 SNP Genotype Report
See HK1 SNP Variation Viewer Report

Homology

Homologs of the HK1 gene: The HK1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, chicken, zebrafish, fruit fly, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
fructokinase activity	IBA Inferred from Biological aspect of Ancestor more info
glucokinase activity	IBA Inferred from Biological aspect of Ancestor more info
hexokinase activity	TAS Traceable Author Statement more info	PubMed
mannokinase activity	IBA Inferred from Biological aspect of Ancestor more info
protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
carbohydrate metabolic process	TAS Traceable Author Statement more info
cellular glucose homeostasis	IBA Inferred from Biological aspect of Ancestor more info
glucose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
glucose transport	TAS Traceable Author Statement more info
glycolysis	IBA Inferred from Biological aspect of Ancestor more info
hexose transport	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
membrane raft	IEA Inferred from Electronic Annotation more info
mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info
NOT nucleolus	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: hexokinase-1

Names: hexokinase-1; HK I; glycolytic enzyme; hexokinase type I; brain form hexokinase

NP_000179.2

EC 2.7.1.1

NP_277031.1

EC 2.7.1.1

NP_277032.1

EC 2.7.1.1

NP_277033.1

EC 2.7.1.1

NP_277035.2

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_012077.1 RefSeqGene

Range

5001..136883

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_365

mRNA and Protein(s)

NM_000188.2 → NP_000179.2 hexokinase-1 isoform HKI

Status: REVIEWED

Description

Transcript Variant: Variant 1 (HKI) encodes the ubiquitously expressed isoform. Its 5' end includes an exon which is unique to this transcript and which encodes a distinct N-terminus that contains the porin binding domain (PBD). The porin binding domain mediates association with the mitochondrial membrane.

Source sequence(s)

AB209526, AK128226, AK292012, BC008730

Consensus CDS

CCDS7292.1

UniProtKB/TrEMBL

A8K7J7

UniProtKB/TrEMBL

B3KXY9

UniProtKB/Swiss-Prot

P19367

UniProtKB/TrEMBL

Q59FD4

Related

ENSP00000352398, OTTHUMP00000019725, ENST00000359426, OTTHUMT00000048429

Conserved Domains (3) summary

PTZ00107
Location:12 – 460
Blast Score: 847

PTZ00107; hexokinase; Provisional

pfam03727
Location:672 – 907
Blast Score: 1042

Hexokinase_2; Hexokinase

cd00012
Location:529 – 692
Blast Score: 170

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_033496.2 → NP_277031.1 hexokinase-1 isoform HKI-R

Status: REVIEWED

Description

Transcript Variant: Variant 2 (HKI-R) encodes the erythroid-specific isoform. Isoform HKI-R lacks the porin binding domain (PBD), which mediates association with the mitochondrial membrane, and thus localizes to the cytoplasm. Variant 2 includes an erythroid-specific exon in the 5' end which encodes a distinct N-terminus.

Source sequence(s)

AK128226, BC008730, BX406321

Consensus CDS

CCDS7291.1

UniProtKB/TrEMBL

B3KXY9

UniProtKB/Swiss-Prot

P19367

Related

ENSP00000298649, ENST00000298649

Conserved Domains (3) summary

PTZ00107
Location:21 – 459
Blast Score: 845

PTZ00107; hexokinase; Provisional

pfam03727
Location:671 – 906
Blast Score: 1041

Hexokinase_2; Hexokinase

cd00012
Location:528 – 691
Blast Score: 170

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_033497.2 → NP_277032.1 hexokinase-1 isoform HKI-ta/tb

Status: REVIEWED

Description

Transcript Variant: Variant 3 (HKI-ta) includes four testis-specific exons in the 5' end. Both variants 3 and 4 encode isoform HKI-ta/tb, which has a unique N-terminus. Isoform HKI-ta/tb lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.

Source sequence(s)

AF073786, AK128226, BC008730, DB088955

Consensus CDS

CCDS7289.1

UniProtKB/TrEMBL

B3KXY9

UniProtKB/Swiss-Prot

P19367

Related

ENSP00000402103, ENST00000448642

Conserved Domains (3) summary

PTZ00107
Location:16 – 464
Blast Score: 847

PTZ00107; hexokinase; Provisional

pfam03727
Location:676 – 911
Blast Score: 1041

Hexokinase_2; Hexokinase

cd00012
Location:533 – 696
Blast Score: 170

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_033498.2 → NP_277033.1 hexokinase-1 isoform HKI-ta/tb

Status: REVIEWED

Description

Transcript Variant: Variant 4 (HKI-tb) has four testis-specific exons in the 5' end, one of which includes an additional 54 nt fragment unique to variants 4 and 5. Both variants 3 and 4 encode isoform HKI-ta/tb, which has a unique N-terminus. Isoform HKI-ta/tb lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.

Source sequence(s)

AF073786, AK128226, BC008730, U38226

Consensus CDS

CCDS7289.1

UniProtKB/TrEMBL

B3KXY9

UniProtKB/Swiss-Prot

P19367

UniProtKB/TrEMBL

P78542

Conserved Domains (3) summary

PTZ00107
Location:16 – 464
Blast Score: 847

PTZ00107; hexokinase; Provisional

pfam03727
Location:676 – 911
Blast Score: 1041

Hexokinase_2; Hexokinase

cd00012
Location:533 – 696
Blast Score: 170

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_033500.2 → NP_277035.2 hexokinase-1 isoform HKI-td

Status: REVIEWED

Description

Transcript Variant: Variant 5 (HKI-td) has five testis-specific exons in the 5' end, one of which includes an additional 54 nt fragment unique to variants 4 and 5. Isoform HKI-td has a unique N-terminus and lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.

Source sequence(s)

AF073786, AK128226, BC008730, U38227

Consensus CDS

CCDS7290.1

UniProtKB/TrEMBL

B3KXY9

UniProtKB/Swiss-Prot

P19367

UniProtKB/TrEMBL

P78542

Related

ENSP00000353433, ENST00000360289

Conserved Domains (3) summary

PTZ00107
Location:10 – 448
Blast Score: 844

PTZ00107; hexokinase; Provisional

pfam03727
Location:660 – 895
Blast Score: 1041

Hexokinase_2; Hexokinase

cd00012
Location:517 – 680
Blast Score: 170

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

71029756..71161638

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

65029590..65161554

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

71403266..71535134

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01019606.1 (24637..39693)	None
genomic	ABBA01019607.1	None
genomic	AC016821.9 (2001..46760)	None
genomic	AF016349.2	AAC15863.1
genomic	AF016365.1	AAC15862.1
		AAC15863.1
		AAF82319.1
		AAF82320.1
genomic	AF029305.1	AAC00173.1
genomic	AF029306.1	AAC00172.1
genomic	AF163908.1	None
genomic	AF163909.1	None
genomic	AF163910.1	AAF82319.1
genomic	AF163911.1	AAF82319.1
genomic	AF163912.1	AAF82320.1
genomic	AF163913.1	None
genomic	AL596223.3 (101100..180547)	None
genomic	AL672126.4 (2001..9671)	None
genomic	AMYH01002806.1 (270850..402718)	None
genomic	CH471083.1	EAW54319.1
		EAW54320.1
		EAW54321.1
		EAW54322.1
		EAW54323.1
mRNA	AB209526.1	BAD92763.1
mRNA	AF073786.2	AAC25424.1
mRNA	AK091267.1	BAG52321.1
mRNA	AK128226.1	BAG54651.1
mRNA	AK292012.1	BAF84701.1
mRNA	AK294428.1	BAG57673.1
mRNA	AK309904.1	None
mRNA	BC008730.2	AAH08730.1
mRNA	BX406321.2	None
mRNA	DB088955.1	None
mRNA	M75126.1	AAA52646.1
mRNA	U38226.1	AAB40527.1
mRNA	U38227.1	AAB40528.1
mRNA	U38228.1	AAB40529.1
mRNA	X66957.1	CAA47379.1
other-genetic	DQ893281.2	ABM84207.1
other-genetic	DQ896762.2	ABM87761.1