Acvrl1 MGI Mouse Gene Detail - MGI:1338946 - activin A receptor, type II-like 1

Acvrl1 Gene Detail

Symbol

Acvrl1
Name

activin A receptor, type II-like 1
Synonyms

activin receptor-like kinase-1, Acvrlk1, Alk1, Alk-1

Feature Type

protein coding gene
IDs

MGI:1338946
NCBI Gene: 11482
Gene Overview

MyGene.info: ACVRL1

Sequence Map

Chr15:101128522-101145336 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

16815 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 56.41 cM, cytoband F3
Mapping Data

4 experiments

Human Ortholog

ACVRL1, activin A receptor like type 1

Vertebrate Orthologs

10

Human Ortholog

ACVRL1, activin A receptor like type 1
Orthology source: HomoloGene, HGNC
Synonyms

ACVRLK1, ALK1, ALK-1, HHT, HHT2, ORW2, SKR3, TSR-I
Links

HGNC:175

NCBI Gene ID: 94

neXtProt AC: NX_P37023
Chr Location

12q13.13; chr12:51906913-51923361 (+) GRCh38.p2

HomoloGene

Vertebrate Homology Class 20058
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: ACVRL1
Protein SuperFamily

type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree

Acvrl1

Diseases

2 with Acvrl1 mouse models; 1 with human ACVRL1 associations

Human Disease

Mouse Models

Telangiectasia, Hereditary Hemorrhagic, Type 2; HHT2 OMIM: 600376

View 5 models

Arteriovenous Malformations of the Brain OMIM: 108010

View 1 model

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

Mutations/Alleles

3 with disease annotations

References

6 with disease annotations

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Phenotype Summary

71 phenotypes from 7 alleles in 13 genetic backgrounds
3 images
47 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
Chemically induced (other)

1
Radiation induced

2
Targeted

7
Genomic Mutations

3 involving Acvrl1
Incidental Mutations

Mutagenetix , APF , CvDC

Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2.

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All GO Annotations

85
GO References

16

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

333
Tissues

136
cDNA Data

35
Literature Summary

30

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase acvrl1

ZFIN acvrl1

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Acvrl1 interacts with 194 markers (Mir1a-1, Mir1a-2, Mir10a, ...) View All

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All Sequences

72
RefSeq

10
UniProt

5
CCDS

CCDS37215.1
UniGene

279542

			Length	Strain/Species	Flank
genomic	OTTMUSG00000029275	VEGA Gene Model \| MGI Sequence Detail	16815	C57BL/6J	± kb
transcript	OTTMUST00000072527	VEGA \| MGI Sequence Detail	3640	Not Applicable
polypeptide	OTTMUSP00000037369	VEGA \| MGI Sequence Detail	502	Not Applicable

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SNPs within 2kb

143 from dbSNP Build 142

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UniProt

5 Sequences
Protein Ontology

PR:000000126 serine/threonine-protein kinase receptor R3
EC

2.7.11.30
InterPro Domains

IPR003605 GS domain

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain

IPR008271 Serine/threonine-protein kinase, active site

IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain

IPR000333 Ser/Thr protein kinase, TGFB receptor

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All nucleic 44

cDNA 36

Primer pair 7

Other 1

Microarray probesets 7

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MGD-MRK-35653, MGI:107192, MGI:2145947, MGI:2145999

Summaries

All 89

Developmental Gene Expression 30

Diseases 6

Gene Ontology 16

Phenotypes 47
Earliest

J:25936 Dewulf N, et al., Distinct spatial and temporal expression patterns of two type I receptors for bone morphogenetic proteins during mouse embryogenesis. Endocrinology. 1995 Jun;136(6):2652-63
Latest

J:232934 Shahid M, et al., BMP type I receptor ALK2 is required for angiotensin II-induced cardiac hypertrophy. Am J Physiol Heart Circ Physiol. 2016 Apr 15;310(8):H984-94

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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