Hk1 MGI Mouse Gene Detail - MGI:96103

Symbol

Hk1
Name

hexokinase 1
Synonyms

Hk-1, Hk1-s, mHk1-s

Feature Type

protein coding gene
IDs

MGI:96103
NCBI Gene: 15275
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr10:62104634-62215687 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 32.37 cM
Mapping Data

8 experiments

SNPs within 2kb

3021 from dbSNP Build 142
Strain Annotations

18
RFLP

5

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96103	protein coding gene	Chr10:62104634-62215699 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017295	protein coding gene	Chr10:61683308-61807017 (-)
A/J	MGP_AJ_G0017273	protein coding gene	Chr10:59805357-59916292 (-)
AKR/J	MGP_AKRJ_G0017233	protein coding gene	Chr10:61364913-61478037 (-)
BALB/cJ	MGP_BALBcJ_G0017233	protein coding gene	Chr10:59884276-59995409 (-)
C3H/HeJ	MGP_C3HHeJ_G0017056	protein coding gene	Chr10:61282399-61398626 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017691	protein coding gene	Chr10:63906320-64023907 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015381	protein coding gene	Chr10:56777109-56885611 (-)
CAST/EiJ	MGP_CASTEiJ_G0016627	protein coding gene	Chr10:61321003-61444564 (-)
CBA/J	MGP_CBAJ_G0017028	protein coding gene	Chr10:66294967-66423873 (-)
DBA/2J	MGP_DBA2J_G0017133	protein coding gene	Chr10:59076932-59189580 (-)
FVB/NJ	MGP_FVBNJ_G0017127	protein coding gene	Chr10:58339580-58452277 (-)
LP/J	MGP_LPJ_G0017207	protein coding gene	Chr10:62073986-62193358 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017155	protein coding gene	Chr10:68533856-68653939 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017729	protein coding gene	Chr10:61199521-61316261 (-)
PWK/PhJ	MGP_PWKPhJ_G0016410	protein coding gene	Chr10:58937674-59053016 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016192	protein coding gene	Chr10:60578666-60685467 (-)
WSB/EiJ	MGP_WSBEiJ_G0016691	protein coding gene	Chr10:61131530-61251591 (-)

Human Ortholog

HK1, hexokinase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HK1, hexokinase 1
Synonyms

CNSHA5, hexokinase, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, NMSR, RP79
Links

HGNC:4922

NCBI Gene ID: 3098

neXtProt AC: NX_P19367

UniProt: P19367
Chr Location

10q22.1; chr10:69269984-69401884 (+) GRCh38

MGI Vertebrate Homology

Hk1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HK1
Gene Tree

Hk1

Diseases

7 with human HK1 associations

				Human Disease	Mouse Models
				acute lymphoblastic leukemia IDs acute lymphoblastic leukemia DOID:9952 EFO:0000220 ICD10CM:C91.00 ICD9CM:204.0 NCI:C3167 NCI:C7055 OMIM:247640 OMIM:613065 ORDO:513 UMLS_CUI:C0023449 UMLS_CUI:C1335469
				anemia IDs anemia DOID:2355 EFO:0004272 ICD10CM:D64.9 ICD9CM:285.9 MESH:D000740 NCI:C2869 UMLS_CUI:C0002871
				Charcot-Marie-Tooth disease type 4G IDs Charcot-Marie-Tooth disease type 4G DOID:0110196 ICD10CM:G60.0 OMIM:605285 ORDO:99953
				congenital nonspherocytic hemolytic anemia IDs congenital nonspherocytic hemolytic anemia DOID:2861 MESH:D000746 OMIM:206300 OMIM:206400 OMIM:300908 OMIM:613470 ORDO:712 UMLS_CUI:C0002882
				multiple myeloma IDs multiple myeloma DOID:9538 EFO:0001378 ICD10CM:C90.0 ICD9CM:203.0 MESH:D009101 NCI:C3242 OMIM:254500 ORDO:29073 UMLS_CUI:C0026764
				obesity IDs obesity DOID:9970 EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C159658 OMIM:601665 UMLS_CUI:C0028754
				retinitis pigmentosa IDs retinitis pigmentosa DOID:10584 DOID:14742 ICD10CM:H35.52 MESH:C538365 MESH:D012174 NCI:C85045 OMIM:PS268000 ORDO:791 UMLS_CUI:C0035334 UMLS_CUI:C0220701

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

22 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

9
Radiation induced

1
Spontaneous

1
Genomic Mutations

2 involving Hk1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

57 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility.

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All GO Annotations

71
GO References

24

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1012
Tissues

127
cDNA Data

203
Literature Summary

22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hk1

ZFIN hk1

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All Sequences

141
RefSeq

26
UniProt

13
CCDS

CCDS48577.1, CCDS48578.1

Ensembl

ENSMUSG00000037012 (Evidence)
NCBI Gene

15275

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037012	Ensembl Gene Model \| MGI Sequence Detail	111054	C57BL/6J	± kb
transcript	ENSMUST00000116238	Ensembl \| MGI Sequence Detail	3851	Not Applicable
polypeptide	ENSMUSP00000111946	Ensembl \| MGI Sequence Detail	945	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000008608 hexokinase-1

(term hierarchy)
EC

2.7.1.-, 2.7.1.1
InterPro Domains

IPR043129 ATPase, nucleotide binding domain

IPR001312 Hexokinase

IPR019807 Hexokinase, binding site

IPR022673 Hexokinase, C-terminal

IPR022672 Hexokinase, N-terminal
GlyGen

P17710 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 210

cDNA 204

Primer pair 5

Other 1

Microarray probesets 4

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MGD-MRK-10735, MGD-MRK-10736, MGI:1891296, MGI:3035452

Summaries

All 110

Developmental Gene Expression 22

Gene Ontology 24

Phenotypes 13
Earliest

J:354385 SOLS A, et al., Substrate specificity of brain hexokinase. J Biol Chem. 1954 Oct;210(2):581-95
Latest

J:347414 Yang J, et al., A BMP-controlled metabolic/epigenetic signaling cascade directs midfacial morphogenesis. J Clin Invest. 2024 Mar 11;134(8)

TSS for Hk1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr97814	Chr10:62215698-62215709 (-)	-17 bp
Tssr97813	Chr10:62215680-62215696 (-)	-1 bp
Tssr97812	Chr10:62198044-62198092 (-)	17,619 bp
Tssr97811	Chr10:62178515-62178530 (-)	37,164 bp
Tssr97810	Chr10:62178505-62178512 (-)	37,178 bp
Tssr97809	Chr10:62178453-62178497 (-)	37,212 bp
Tssr97808	Chr10:62178442-62178451 (-)	37,240 bp
Tssr97807	Chr10:62178423-62178439 (-)	37,256 bp
Tssr97806	Chr10:62178412-62178421 (-)	37,270 bp
Tssr97805	Chr10:62176293-62176328 (-)	39,376 bp
Tssr97804	Chr10:62175936-62175960 (-)	39,739 bp
Tssr97803	Chr10:62175913-62175933 (-)	39,764 bp
Tssr97802	Chr10:62175889-62175900 (-)	39,792 bp
Tssr3222	Chr10:62175108-62175117 (-)	40,574 bp
Tssr3221	Chr10:62175074-62175094 (-)	40,603 bp
Tssr97801	Chr10:62173169-62173174 (-)	42,515 bp
Tssr97800	Chr10:62163556-62163566 (-)	52,126 bp
Tssr97799	Chr10:62163536-62163547 (-)	52,145 bp
Tssr97798	Chr10:62163445-62163458 (-)	52,235 bp
Tssr97797	Chr10:62163381-62163434 (-)	52,279 bp
Tssr97796	Chr10:62163361-62163378 (-)	52,317 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24