Ak1 MGI Mouse Gene Detail - MGI:87977

Symbol

Ak1
Name

adenylate kinase 1
Synonyms

Ak-1, B430205N08Rik

Feature Type

protein coding gene
IDs

MGI:87977
NCBI Gene: 11636
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr2:32511770-32525070 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 22.09 cM
Mapping Data

14 experiments

SNPs within 2kb

391 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_87977	protein coding gene	Chr2:32511770-32525070 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025615	protein coding gene	Chr2:31099791-31112930 (+)
A/J	MGP_AJ_G0025592	protein coding gene	Chr2:29772411-29785688 (+)
AKR/J	MGP_AKRJ_G0025562	protein coding gene	Chr2:30838884-30852159 (+)
BALB/cJ	MGP_BALBcJ_G0025589	protein coding gene	Chr2:29894743-29908033 (+)
C3H/HeJ	MGP_C3HHeJ_G0025349	protein coding gene	Chr2:30724653-30737954 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026033	protein coding gene	Chr2:32041171-32054514 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023442	protein coding gene	Chr2:28490790-28504509 (+)
CAST/EiJ	MGP_CASTEiJ_G0024811	protein coding gene	Chr2:30664354-30678987 (+)
CBA/J	MGP_CBAJ_G0025327	protein coding gene	Chr2:33259780-33273071 (+)
DBA/2J	MGP_DBA2J_G0025460	protein coding gene	Chr2:29540073-29553344 (+)
FVB/NJ	MGP_FVBNJ_G0025422	protein coding gene	Chr2:29414887-29429320 (+)
LP/J	MGP_LPJ_G0025546	protein coding gene	Chr2:30973650-30987154 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025453	protein coding gene	Chr2:32890765-32904037 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026091	protein coding gene	Chr2:30713445-30726753 (+)
PWK/PhJ	MGP_PWKPhJ_G0024559	protein coding gene	Chr2:29443795-29457227 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024359	protein coding gene	Chr2:30867518-30880602 (+)
WSB/EiJ	MGP_WSBEiJ_G0024880	protein coding gene	Chr2:30892135-30905425 (+)

Human Ortholog

AK1, adenylate kinase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AK1, adenylate kinase 1
Synonyms

CNSHA3, HTL-S-58j
Links

HGNC:361

NCBI Gene ID: 203

neXtProt AC: NX_P00568

UniProt: P00568
Chr Location

9q34.11; chr9:127866480-127879621 (-) GRCh38

MGI Vertebrate Homology

Ak1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AK1
Gene Tree

Ak1

Diseases

2 with human AK1 associations

				Human Disease	Mouse Models
				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
				hemolytic anemia IDs hemolytic anemia DOID:583 ICD10CM:D55-D59 MESH:D000743 NCI:C34376 OMIM:266120 OMIM:612631 UMLS_CUI:C0002878

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

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
3 phenotypes from multigenic genotypes
21 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

35
Endonuclease-mediated

2
Gene trapped

31
Targeted

2
Incidental Mutations

APF
Find Mice (IMSR)

32 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction.

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All GO Annotations

30
GO References

15

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

850
Tissues

102
cDNA Data

80
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ak1

ZFIN ak1

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All Sequences

58
RefSeq

12
UniProt

3
CCDS

CCDS15924.1, CCDS57167.1

Ensembl

ENSMUSG00000026817 (Evidence)
NCBI Gene

11636

			Length	Strain/Species	Flank
genomic	11636	NCBI Gene Model \| MGI Sequence Detail	13301	C57BL/6J	± kb
transcript	NM_001198790	RefSeq \| MGI Sequence Detail	2106	C57BL/6
polypeptide	Q9R0Y5	UniProt \| EBI \| MGI Sequence Detail	194	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003878 adenylate kinase isoenzyme 1

(term hierarchy)
EC

2.7.4.10, 2.7.4.3, 2.7.4.4, 2.7.4.6
InterPro Domains

IPR033690 Adenylate kinase, conserved site

IPR028582 Adenylate kinase isoenzyme 1

IPR006267 Adenylate kinase, isozyme 1/5

IPR000850 Adenylate kinase/UMP-CMP kinase

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q9R0Y5 1 site, 1 O-linked glycan (1 site)

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All nucleic 82

cDNA 81

Other 1

Microarray probesets 4

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MGD-MRK-1240, MGD-MRK-1244, MGI:2445070

Summaries

All 78

Developmental Gene Expression 6

Gene Ontology 15

Phenotypes 21
Earliest

J:5872 Francke U, et al., Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Cytogenet Cell Genet. 1977;19(2-3):57-84
Latest

J:333391 Ito C, et al., The association of ODF4 with AK1 and AK2 in mice is essential for fertility through its contribution to flagellar shape. Sci Rep. 2023;13(1):2969

TSS for Ak1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr17317	Chr2:32511541-32511565 (+)	-217 bp
Tssr17318	Chr2:32511762-32511786 (+)	4 bp
Tssr17319	Chr2:32511793-32511810 (+)	32 bp
Tssr17320	Chr2:32515443-32515454 (+)	3,679 bp
Tssr17321	Chr2:32515456-32515507 (+)	3,712 bp
Tssr17322	Chr2:32516864-32516873 (+)	5,099 bp
Tssr17323	Chr2:32516879-32516891 (+)	5,115 bp
Tssr17324	Chr2:32518424-32518427 (+)	6,656 bp
Tssr17325	Chr2:32518430-32518474 (+)	6,682 bp
Tssr17326	Chr2:32519313-32519320 (+)	7,547 bp
Tssr17327	Chr2:32519479-32519526 (+)	7,733 bp
Tssr17328	Chr2:32519529-32519552 (+)	7,771 bp
Tssr17329	Chr2:32519785-32519815 (+)	8,030 bp
Tssr17330	Chr2:32519838-32519862 (+)	8,080 bp
Tssr17331	Chr2:32520331-32520343 (+)	8,567 bp
Tssr17332	Chr2:32523732-32523758 (+)	11,975 bp
Tssr17333	Chr2:32524215-32524230 (+)	12,453 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 11/12/2024 MGI 6.24