Akap1 MGI Mouse Gene Detail - MGI:104729 - A kinase anchor protein 1

Symbol

Akap1
Name

A kinase anchor protein 1
Synonyms

AKAP121, AKAP84, DAKAP1, S-AKAP84

Feature Type

protein coding gene
IDs

MGI:104729
NCBI Gene: 11640
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr11:88721618-88755412 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 54.34 cM
Mapping Data

2 experiments

SNPs within 2kb

343 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104729	protein coding gene	Chr11:88721618-88755426 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018925	protein coding gene	Chr11:90581921-90620722 (-)
A/J	MGP_AJ_G0018893	protein coding gene	Chr11:87060043-87095403 (-)
AKR/J	MGP_AKRJ_G0018863	protein coding gene	Chr11:89712371-89750056 (-)
BALB/cJ	MGP_BALBcJ_G0018866	protein coding gene	Chr11:87475328-87509641 (-)
C3H/HeJ	MGP_C3HHeJ_G0018680	protein coding gene	Chr11:89740516-89775310 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019318	protein coding gene	Chr11:93317980-93358073 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016949	protein coding gene	Chr11:84085471-84119076 (-)
CAST/EiJ	MGP_CASTEiJ_G0018235	protein coding gene	Chr11:90414605-90475950 (-)
CBA/J	MGP_CBAJ_G0018651	protein coding gene	Chr11:97303175-97344907 (-)
DBA/2J	MGP_DBA2J_G0018759	protein coding gene	Chr11:86614139-86647770 (-)
FVB/NJ	MGP_FVBNJ_G0018748	protein coding gene	Chr11:86117763-86151988 (-)
LP/J	MGP_LPJ_G0018829	protein coding gene	Chr11:91100514-91136088 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018775	protein coding gene	Chr11:97250812-97286249 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019358	protein coding gene	Chr11:89924089-89958592 (-)
PWK/PhJ	MGP_PWKPhJ_G0018005	protein coding gene	Chr11:87441484-87498299 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017796	protein coding gene	Chr11:89505857-89539325 (-)
WSB/EiJ	MGP_WSBEiJ_G0018284	protein coding gene	Chr11:89819246-89854289 (-)

Human Ortholog

AKAP1, A-kinase anchoring protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AKAP1, A-kinase anchoring protein 1
Synonyms

AKAP, AKAP121, AKAP149, AKAP84, D-AKAP1, PPP1R43, PRKA1, SAKAP84, TDRD17
Links

HGNC:367

NCBI Gene ID: 8165

neXtProt AC: NX_Q92667

UniProt: Q92667
Chr Location

17q22; chr17:57085092-57121346 (+) GRCh38

MGI Vertebrate Homology

Akap1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AKAP1
Gene Tree

Akap1

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References

1 with disease annotations

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
25 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

47
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

37
Targeted

6
Genomic Mutations

4 involving Akap1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

64 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation.

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All GO Annotations

30
GO References

12

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

754
Tissues

43
cDNA Data

20
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AKAP1

Xenbase akap1

ZFIN akap1b

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All Sequences

58
RefSeq

8
UniProt

3
CCDS

CCDS25229.1

Ensembl

ENSMUSG00000018428 (Evidence)
NCBI Gene

11640

			Length	Strain/Species	Flank
genomic	ENSMUSG00000018428	Ensembl Gene Model \| MGI Sequence Detail	33795	C57BL/6J	± kb
transcript	ENSMUST00000107904	Ensembl \| MGI Sequence Detail	2673	Not Applicable
polypeptide	ENSMUSP00000103537	Ensembl \| MGI Sequence Detail	890	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003883 A-kinase anchor protein 1, mitochondrial

(term hierarchy)
InterPro Domains

IPR047367 A-kinase anchor protein 1, Tudor domain

IPR047368 A-kinase anchor protein 1, type I K homology domain

IPR004087 K Homology domain

IPR004088 K Homology domain, type 1

IPR036612 K Homology domain, type 1 superfamily

IPR035437 SNase-like, OB-fold superfamily

IPR002999 Tudor domain

IPR050621 Tudor domain-containing
GlyGen

O08715 1 site, 1 O-linked glycan (1 site)

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All nucleic 22

cDNA 21

Primer pair 1

Microarray probesets 6

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MGD-MRK-27092, MGI:2144620, MGI:2144667

Summaries

All 73

Developmental Gene Expression 2

Diseases 1

Gene Ontology 12

Phenotypes 25
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:305504 Edwards G, et al., Loss of AKAP1 triggers Drp1 dephosphorylation-mediated mitochondrial fission and loss in retinal ganglion cells. Cell Death Dis. 2020 Apr 20;11(4):254

TSS for Akap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr110045	Chr11:88755360-88755417 (-)	23 bp
Tssr110044	Chr11:88755335-88755353 (-)	68 bp
Tssr110043	Chr11:88754647-88754660 (-)	758 bp
Tssr110042	Chr11:88754627-88754636 (-)	780 bp
Tssr110041	Chr11:88742288-88742348 (-)	13,094 bp
Tssr110040	Chr11:88735260-88735280 (-)	20,142 bp
Tssr110039	Chr11:88732302-88732317 (-)	23,102 bp
Tssr110038	Chr11:88732259-88732301 (-)	23,132 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)
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