Aak1 MGI Mouse Gene Detail - MGI:1098687

Symbol

Aak1
Name

AP2 associated kinase 1
Synonyms

5530400K14Rik, D6Ertd245e, MGC:40785, mKIAA1048

Feature Type

protein coding gene
IDs

MGI:1098687
NCBI Gene: 269774
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr6:86826499-86980205 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 37.75 cM
Mapping Data

4 experiments

SNPs within 2kb

3240 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098687	protein coding gene	Chr6:86826252-86980209 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030984	protein coding gene	Chr6:88175997-88337757 (+)
A/J	MGP_AJ_G0030950	protein coding gene	Chr6:84760587-84915917 (+)
AKR/J	MGP_AKRJ_G0030881	protein coding gene	Chr6:87223786-87382965 (+)
BALB/cJ	MGP_BALBcJ_G0030963	protein coding gene	Chr6:84770591-84926539 (+)
C3H/HeJ	MGP_C3HHeJ_G0030747	protein coding gene	Chr6:97094619-97248090 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031420	protein coding gene	Chr6:90555887-90721261 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028604	protein coding gene	Chr6:82942916-83096921 (+)
CAST/EiJ	MGP_CASTEiJ_G0030072	protein coding gene	Chr6:87285975-87446492 (+)
CBA/J	MGP_CBAJ_G0030647	protein coding gene	Chr6:94124404-94280743 (+)
DBA/2J	MGP_DBA2J_G0030803	protein coding gene	Chr6:84076529-84231936 (+)
FVB/NJ	MGP_FVBNJ_G0030756	protein coding gene	Chr6:83258842-83413479 (+)
LP/J	MGP_LPJ_G0030880	protein coding gene	Chr6:88199900-88358085 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030789	protein coding gene	Chr6:98221743-98383469 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031447	protein coding gene	Chr6:87053601-87217899 (+)
PWK/PhJ	MGP_PWKPhJ_G0029787	protein coding gene	Chr6:83031305-83188647 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029615	protein coding gene	Chr6:85887785-86049294 (+)
WSB/EiJ	MGP_WSBEiJ_G0030153	protein coding gene	Chr6:87523082-87682829 (+)

Human Ortholog

AAK1, AP2 associated kinase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AAK1, AP2 associated kinase 1
Links

HGNC:19679

NCBI Gene ID: 22848

neXtProt AC: NX_Q2M2I8

UniProt: Q2M2I8
Chr Location

2p13.3; chr2:69457997-69674349 (-) GRCh38

MGI Vertebrate Homology

Aak1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AAK1
Gene Tree

Aak1

less

Phenotype Summary

18 phenotypes from 1 allele in 1 genetic background
16 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

21
Endonuclease-mediated

3
Gene trapped

13
Spontaneous

1
Targeted

4
Genomic Mutations

1 involving Aak1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

65 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

less

All GO Annotations

63
GO References

11

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.

less

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

752
Tissues

15
cDNA Data

21
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AAK1

Xenbase aak1

less

All Sequences

159
RefSeq

88
UniProt

5
CCDS

CCDS20317.1, CCDS39544.1

Ensembl

ENSMUSG00000057230 (Evidence)
NCBI Gene

269774

			Length	Strain/Species	Flank
genomic	ENSMUSG00000057230	Ensembl Gene Model \| MGI Sequence Detail	153707	C57BL/6J	± kb
transcript	ENSMUST00000089519	Ensembl \| MGI Sequence Detail	19341	Not Applicable
polypeptide	ENSMUSP00000086948	Ensembl \| MGI Sequence Detail	959	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000003526 AAK1 gene translation product

(term hierarchy)
PDB

7LVH, 7LVI, 7RJ6, 7RJ7, 7RJ8
EC

2.7.11.1
InterPro Domains

IPR051744 AP2-associated Ser/Thr protein kinase

IPR028182 BMP-2-inducible protein kinase, C-terminal

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site
GlyGen

Q3UHJ0 9 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (7 sites)

less

All nucleic 23

cDNA 22

Primer pair 1

Microarray probesets 16

less

MGI:1925924, MGI:2141600, MGI:2141601, MGI:2141755, MGI:2141797, MGI:2679265

Summaries

All 55

Developmental Gene Expression 3

Gene Ontology 11

Phenotypes 16
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

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

TSS for Aak1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57509	Chr6:86826248-86826317 (+)	-216 bp
Tssr57510	Chr6:86826425-86826436 (+)	-68 bp
Tssr57511	Chr6:86826470-86826576 (+)	24 bp
Tssr57512	Chr6:86827874-86827892 (+)	1,384 bp
Tssr57513	Chr6:86827904-86827915 (+)	1,411 bp
Tssr57514	Chr6:86841909-86841913 (+)	15,412 bp
Tssr57515	Chr6:86847792-86847795 (+)	21,295 bp
Tssr57516	Chr6:86920225-86920233 (+)	93,730 bp
Tssr57517	Chr6:86923840-86923863 (+)	97,353 bp
Tssr57518	Chr6:86923901-86923924 (+)	97,414 bp
Tssr57519	Chr6:86926520-86926545 (+)	100,034 bp
Tssr57520	Chr6:86932125-86932162 (+)	105,645 bp
Tssr57521	Chr6:86932205-86932212 (+)	105,710 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