Alpk3 MGI Mouse Gene Detail - MGI:2151224

Symbol

Alpk3
Name

alpha-kinase 3
Synonyms

Midori

Feature Type

protein coding gene
IDs

MGI:2151224
NCBI Gene: 116904
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr7:80707348-80755360 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 45.71 cM
Mapping Data

2 experiments

SNPs within 2kb

1308 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2151224	protein coding gene	Chr7:80707321-80755360 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032424	protein coding gene	Chr7:83083734-83136119 (+)
A/J	MGP_AJ_G0032403	protein coding gene	Chr7:81130995-81178752 (+)
AKR/J	MGP_AKRJ_G0032339	protein coding gene	Chr7:82917948-82968963 (+)
BALB/cJ	MGP_BALBcJ_G0032415	protein coding gene	Chr7:80790905-80839225 (+)
C3H/HeJ	MGP_C3HHeJ_G0032128	protein coding gene	Chr7:83543126-83591594 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032907	protein coding gene	Chr7:86331804-86383510 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029915	protein coding gene	Chr7:83624058-83671778 (+)
CAST/EiJ	MGP_CASTEiJ_G0031456	protein coding gene	Chr7:74446980-74500004 (+)
CBA/J	MGP_CBAJ_G0032094	protein coding gene	Chr7:89224502-89284923 (+)
DBA/2J	MGP_DBA2J_G0032249	protein coding gene	Chr7:79673919-79721862 (+)
FVB/NJ	MGP_FVBNJ_G0032204	protein coding gene	Chr7:79602892-79650858 (+)
LP/J	MGP_LPJ_G0032330	protein coding gene	Chr7:84323029-84373360 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032241	protein coding gene	Chr7:89326766-89379256 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032925	protein coding gene	Chr7:82339013-82388366 (+)
PWK/PhJ	MGP_PWKPhJ_G0031176	protein coding gene	Chr7:72877867-72927819 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031017	protein coding gene	Chr7:69347045-69393241 (+)
WSB/EiJ	MGP_WSBEiJ_G0031574	protein coding gene	Chr7:82695268-82747245 (+)

Human Ortholog

ALPK3, alpha kinase 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ALPK3, alpha kinase 3
Synonyms

CMH27, MAK, MIDORI
Links

HGNC:17574

NCBI Gene ID: 57538

neXtProt AC: NX_Q96L96

UniProt: Q96L96
Chr Location

15q25.3; chr15:84817356-84873479 (+) GRCh38

MGI Vertebrate Homology

Alpk3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ALPK3
Gene Tree

Alpk3

Diseases

1 with human ALPK3 associations

				Human Disease	Mouse Models
				familial hypertrophic cardiomyopathy IDs familial hypertrophic cardiomyopathy DOID:0080326 MESH:D024741 NCI:C84773 OMIM:PS192600 ORDO:217569 UMLS_CUI:C0949658

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

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Phenotype Summary

20 phenotypes from 2 alleles in 2 genetic backgrounds
22 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

20
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

13
Radiation induced

2
Targeted

3
Genomic Mutations

3 involving Alpk3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

66 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy,

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All GO Annotations

29
GO References

7

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

741
Tissues

28
cDNA Data

4
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase alpk3

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All Sequences

36
RefSeq

7
UniProt

1
CCDS

CCDS40004.1

Ensembl

ENSMUSG00000038763 (Evidence)
NCBI Gene

116904

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038763	Ensembl Gene Model \| MGI Sequence Detail	48013	C57BL/6J	± kb
transcript	ENSMUST00000107348	Ensembl \| MGI Sequence Detail	6369	Not Applicable
polypeptide	ENSMUSP00000102971	Ensembl \| MGI Sequence Detail	1680	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000003967 alpha-protein kinase 3

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR004166 Alpha-type protein kinase, alpha-kinase domain

IPR013098 Immunoglobulin I-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003599 Immunoglobulin subtype

IPR003598 Immunoglobulin subtype 2

IPR011009 Protein kinase-like domain superfamily
GlyGen

Q924C5 1 site, 1 O-linked glycan (1 site)

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All nucleic 7

Genomic 2

cDNA 5

Microarray probesets 3

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MGI:2142226

Summaries

All 46

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 22
Earliest

J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Alpk3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67484	Chr7:80707331-80707336 (+)	-14 bp
Tssr67485	Chr7:80707337-80707351 (+)	-4 bp
Tssr67486	Chr7:80736926-80736949 (+)	29,590 bp
Tssr67487	Chr7:80750477-80750486 (+)	43,134 bp
Tssr67488	Chr7:80754687-80754690 (+)	47,341 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