Actmap MGI Mouse Gene Detail - MGI:3041247

Symbol

Actmap
Name

actin maturation protease
Synonyms

BC024978

Feature Type

protein coding gene
IDs

MGI:3041247
NCBI Gene: 414069
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr7:26895206-26909611 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 15.84 cM
Mapping Data

1 experiment

SNPs within 2kb

413 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3041247	protein coding gene	Chr7:26894973-26909611 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031902	protein coding gene	Chr7:25815032-25831333 (+)
A/J	MGP_AJ_G0031881	protein coding gene	Chr7:25209644-25220512 (+)
AKR/J	MGP_AKRJ_G0031811	protein coding gene	Chr7:25875104-25891005 (+)
BALB/cJ	MGP_BALBcJ_G0031886	protein coding gene	Chr7:25433843-25441529 (+)
C3H/HeJ	MGP_C3HHeJ_G0031608	protein coding gene	Chr7:26257217-26274109 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032351	protein coding gene	Chr7:26669820-26687486 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029403	protein coding gene	Chr7:26446788-26461248 (+)
CAST/EiJ	MGP_CASTEiJ_G0030943	protein coding gene	Chr7:19556227-19572270 (+)
CBA/J	MGP_CBAJ_G0031573	protein coding gene	Chr7:27838891-27865432 (+)
DBA/2J	MGP_DBA2J_G0031725	protein coding gene	Chr7:25010432-25025065 (+)
FVB/NJ	MGP_FVBNJ_G0031681	protein coding gene	Chr7:25093682-25110946 (+)
LP/J	MGP_LPJ_G0031805	protein coding gene	Chr7:26159102-26174752 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031716	protein coding gene	Chr7:27448061-27458221 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032382	protein coding gene	Chr7:25406888-25416463 (+)
PWK/PhJ	MGP_PWKPhJ_G0030667	protein coding gene	Chr7:20042399-20057086 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030501	protein coding gene	Chr7:16395525-16411887 (+)
WSB/EiJ	MGP_WSBEiJ_G0031051	protein coding gene	Chr7:25697822-25712089 (+)

Human Ortholog

ACTMAP, actin maturation protease

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ACTMAP, actin maturation protease
Synonyms

C19orf54
Links

HGNC:24758

NCBI Gene ID: 284325

neXtProt AC: NX_Q5BKX5

UniProt: Q5BKX5
Chr Location

19q13.2; chr19:40740856-40751553 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: ACTMAP
Gene Tree

Actmap

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
6 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

34
Endonuclease-mediated

2
Gene trapped

32
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

57 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit decreased muscle strength and function, shorter skeletal muscle actin filaments, and centrally nucleated skeletal muscle fibers.

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All GO Annotations

8
GO References

5

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

706
cDNA Data

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

49
RefSeq

11
UniProt

3
CCDS

CCDS57529.1, CCDS71921.1

Ensembl

ENSMUSG00000078786 (Evidence)
NCBI Gene

414069

			Length	Strain/Species	Flank
genomic	ENSMUSG00000078786	Ensembl Gene Model \| MGI Sequence Detail	14406	C57BL/6J	± kb
transcript	ENSMUST00000179391	Ensembl \| MGI Sequence Detail	1748	Not Applicable
polypeptide	ENSMUSP00000137189	Ensembl \| MGI Sequence Detail	361	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000059810 actin maturation protease

(term hierarchy)
EC

3.4.11.-
InterPro Domains

IPR040043 Actin maturation protease

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All nucleic 10

cDNA 10

Microarray probesets 1

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MGI:7414076

Summaries

All 25

Gene Ontology 5

Phenotypes 6
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:331923 Haahr P, et al., Actin maturation requires the ACTMAP/C19orf54 protease. Science. 2022 Sep 30;377(6614):1533-1537

TSS for Actmap:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr65247	Chr7:26894546-26894548 (+)	-659 bp
Tssr65248	Chr7:26894563-26894568 (+)	-640 bp
Tssr65249	Chr7:26894573-26894584 (+)	-627 bp
Tssr65250	Chr7:26895239-26895255 (+)	41 bp
Tssr65251	Chr7:26895266-26895310 (+)	82 bp
Tssr65252	Chr7:26895324-26895340 (+)	126 bp
Tssr65253	Chr7:26895823-26895884 (+)	648 bp
Tssr65254	Chr7:26896401-26896423 (+)	1,206 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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