Ankrd1 MGI Mouse Gene Detail - MGI:1097717

Symbol

Ankrd1
Name

ankyrin repeat domain 1
Synonyms

Alrp, CARP, Crap, MARP1

Feature Type

protein coding gene
IDs

MGI:1097717
NCBI Gene: 107765
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr19:36089365-36097244 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 30.52 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

328 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1097717	protein coding gene	Chr19:36089361-36097499 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025070	protein coding gene	Chr19:34960452-34968895 (-)
A/J	MGP_AJ_G0025046	protein coding gene	Chr19:33294481-33302399 (-)
AKR/J	MGP_AKRJ_G0025014	protein coding gene	Chr19:34411565-34419480 (-)
BALB/cJ	MGP_BALBcJ_G0025044	protein coding gene	Chr19:33383179-33390949 (-)
C3H/HeJ	MGP_C3HHeJ_G0024803	protein coding gene	Chr19:34479453-34488303 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025485	protein coding gene	Chr19:35979700-35989179 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022903	protein coding gene	Chr19:32671645-32680391 (-)
CAST/EiJ	MGP_CASTEiJ_G0024270	protein coding gene	Chr19:34263283-34271037 (-)
CBA/J	MGP_CBAJ_G0024780	protein coding gene	Chr19:37687453-37696904 (-)
DBA/2J	MGP_DBA2J_G0024912	protein coding gene	Chr19:33161907-33169415 (-)
FVB/NJ	MGP_FVBNJ_G0024873	protein coding gene	Chr19:32968927-32976752 (-)
LP/J	MGP_LPJ_G0024998	protein coding gene	Chr19:35054893-35064939 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024904	protein coding gene	Chr19:37519201-37527449 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025543	protein coding gene	Chr19:34500226-34507974 (-)
PWK/PhJ	MGP_PWKPhJ_G0024022	protein coding gene	Chr19:32973370-32981424 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023822	protein coding gene	Chr19:33337156-33345660 (-)
WSB/EiJ	MGP_WSBEiJ_G0024337	protein coding gene	Chr19:34591613-34600586 (-)

Human Ortholog

ANKRD1, ankyrin repeat domain 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ANKRD1, ankyrin repeat domain 1
Synonyms

ALRP, bA320F15.2, C-193, CARP, CVARP, MCARP
Links

HGNC:15819

NCBI Gene ID: 27063

neXtProt AC: NX_Q15327

UniProt: Q15327
Chr Location

10q23.31; chr10:90912096-90921087 (-) GRCh38

MGI Vertebrate Homology

Ankrd1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ANKRD1
Gene Tree

Ankrd1

Diseases

5 with human ANKRD1 associations

				Human Disease	Mouse Models
				congenital structural myopathy IDs congenital structural myopathy DOID:422 MESH:D020914 NCI:C84648 UMLS_CUI:C0752282
				dilated cardiomyopathy IDs dilated cardiomyopathy DOID:12930 EFO:0000407 ICD10CM:I42.0 KEGG:05414 MESH:D002311 NCI:C84673 OMIM:PS115200 ORDO:217604 UMLS_CUI:C0007193
				hypertrophic cardiomyopathy IDs hypertrophic cardiomyopathy DOID:11984 DOID:11986 ICD9CM:425.1 ICD9CM:425.11 KEGG:05410 MESH:D002312 NCI:C34449 ORDO:217569 UMLS_CUI:C0007194
				nemaline myopathy IDs nemaline myopathy DOID:3191 ICD10CM:G71.21 MESH:D017696 OMIM:PS161800 ORDO:607 UMLS_CUI:C0206157
				spinal muscular atrophy IDs spinal muscular atrophy DOID:12377 ICD10CM:G12.9 ICD9CM:335.1 ICD9CM:335.10 MESH:D009134 NCI:C85075 UMLS_CUI:C0026847

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

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Phenotype Summary

8 phenotypes from 3 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
15 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

10
Endonuclease-mediated

3
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype.

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All GO Annotations

69
GO References

14

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

907
Tissues

83
cDNA Data

52
Literature Summary

37

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ankrd1

ZFIN ankrd1a, ankrd1b

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All Sequences

47
RefSeq

2
UniProt

5
CCDS

CCDS29771.1

Ensembl

ENSMUSG00000024803 (Evidence)
NCBI Gene

107765

			Length	Strain/Species	Flank
genomic	107765	NCBI Gene Model \| MGI Sequence Detail	7880	C57BL/6J	± kb
transcript	NM_013468	RefSeq \| MGI Sequence Detail	1765	C57BL/6
polypeptide	Q9CR42	UniProt \| EBI \| MGI Sequence Detail	319	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004040 ankyrin repeat domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR002110 Ankyrin repeat

IPR036770 Ankyrin repeat-containing domain superfamily

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All nucleic 62

Genomic 2

cDNA 53

Primer pair 2

Other 5

Microarray probesets 4

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MGD-MRK-39620, MGI:109621

Summaries

All 88

Developmental Gene Expression 37

Gene Ontology 14

Phenotypes 15
Earliest

J:38213 Arber S, et al., MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell. 1997 Feb 7;88(3):393-403
Latest

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

TSS for Ankrd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159040	Chr19:36097494-36097506 (-)	-256 bp
Tssr159039	Chr19:36097233-36097247 (-)	4 bp
Tssr159038	Chr19:36097113-36097123 (-)	126 bp
Tssr159037	Chr19:36096757-36096767 (-)	482 bp
Tssr159036	Chr19:36096682-36096703 (-)	551 bp
Tssr159035	Chr19:36096649-36096662 (-)	588 bp
Tssr159034	Chr19:36095538-36095552 (-)	1,699 bp
Tssr159033	Chr19:36091682-36091716 (-)	5,545 bp
Tssr159032	Chr19:36090421-36090425 (-)	6,821 bp
Tssr159031	Chr19:36089717-36089723 (-)	7,524 bp
Tssr159030	Chr19:36089456-36089495 (-)	7,768 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