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MOUSE:ASXL1

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Asxl1 (synonyms: Kiaa0978)
Protein Name(s) Putative Polycomb group protein ASXL1

Additional sex combs-like protein 1

External Links
UniProt P59598
EMBL AK122413
CCDS CCDS38285.1
RefSeq NP_001035028.1
UniGene Mm.330677
ProteinModelPortal P59598
BioGrid 230772
IntAct P59598
STRING 10090.ENSMUSP00000105413
iPTMnet P59598
PhosphoSite P59598
MaxQB P59598
PaxDb P59598
PRIDE P59598
Ensembl ENSMUST00000109790
GeneID 228790
KEGG mmu:228790
UCSC uc033hqx.1
CTD 171023
MGI MGI:2684063
eggNOG ENOG410IGAP
ENOG410YF2J
HOGENOM HOG000293301
HOVERGEN HBG050598
InParanoid P59598
KO K11471
OMA SLKAMIM
OrthoDB EOG7SXW2P
PhylomeDB P59598
TreeFam TF328464
NextBio 379148
PRO PR:P59598
Proteomes UP000000589
Bgee P59598
CleanEx MM_ASXL1
ExpressionAtlas P59598
Genevisible P59598
GO GO:0070062
GO:0000790
GO:0005634
GO:0035517
GO:0003677
GO:0046872
GO:0042975
GO:0042974
GO:0003713
GO:0003714
GO:0060348
GO:0003007
GO:0060430
GO:0035522
GO:0045599
GO:0035359
GO:0048387
GO:0000122
GO:0048386
GO:0045944
GO:0032526
GO:0006351
InterPro IPR026905
IPR024811
IPR028020
IPR024815
IPR007759
PANTHER PTHR13578
PTHR13578:SF19
Pfam PF13919
PF05066
PF13922

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0048386

positive regulation of retinoic acid receptor signaling pathway

PMID:16606617[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

GO:0035564

regulation of kidney size

PMID:26385183[2]

ECO:0000315

P

As shown in Fig. 2C, kidney size in the Asxl1−/− embryos was 80% of that in wild type. Thus, we concluded that kidney size is reduced upon the deletion of Asxl1.

complete
CACAO 11230

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:16606617[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

GO:0072015

glomerular visceral epithelial cell development

PMID:26385183[2]

ECO:0000315

P

As indicated in Fig. 3E and F, glomerular volume was observed to be significantly reduced in PAS-stained sections of Asxl1−/− kidneys.

complete
CACAO 11236

involved_in

GO:0045599

negative regulation of fat cell differentiation

PMID:21047783[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042975

peroxisome proliferator activated receptor binding

PMID:21047783[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0042974

retinoic acid receptor binding

PMID:16606617[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0035522

monoubiquitinated histone H2A deubiquitination

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8IXJ9

P

Seeded From UniProt

complete

part_of

GO:0035517

PR-DUB complex

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8IXJ9

C

Seeded From UniProt

complete

involved_in

GO:0035359

negative regulation of peroxisome proliferator activated receptor signaling pathway

PMID:21047783[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032526

response to retinoic acid

PMID:16606617[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0003713

transcription coactivator activity

PMID:16606617[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2684063
PANTHER:PTN000339786
UniProtKB:Q76L83

P

Seeded From UniProt

complete

enables

GO:0042975

peroxisome proliferator activated receptor binding

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2684063
PANTHER:PTN000339788
UniProtKB:Q76L83

F

Seeded From UniProt

complete

part_of

GO:0035517

PR-DUB complex

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0261823
PANTHER:PTN000339786
UniProtKB:Q8IXJ9

C

Seeded From UniProt

complete

involved_in

GO:0009887

animal organ morphogenesis

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2684063
PANTHER:PTN000339786

P

Seeded From UniProt

complete

colocalizes_with

GO:0005634

nucleus

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0261823
MGI:MGI:1922552
MGI:MGI:2684063
PANTHER:PTN000339786

C

Seeded From UniProt

complete

enables

GO:0003682

chromatin binding

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0261823
PANTHER:PTN000339786

F

Seeded From UniProt

complete

colocalizes_with

GO:0000790

nuclear chromatin

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1922552
PANTHER:PTN000339786

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060430

lung saccule development

PMID:24860998[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4431878

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060348

bone development

PMID:22876197[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048872

homeostasis of number of cells

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048539

bone marrow development

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048538

thymus development

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048534

hematopoietic or lymphoid organ development

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035522

monoubiquitinated histone H2A deubiquitination

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q8IXJ9

P

Seeded From UniProt

complete

part_of

GO:0035517

PR-DUB complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q8IXJ9

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0030097

hemopoiesis

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0009887

animal organ morphogenesis

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:24216483[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0003007

heart morphogenesis

PMID:24860998[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4431878

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0000902

cell morphogenesis

PMID:19861679[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:4418244

P

Seeded From UniProt

complete

involved_in

GO:0035522

monoubiquitinated histone H2A deubiquitination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8IXJ9
ensembl:ENSP00000364839

P

Seeded From UniProt

complete

part_of

GO:0035517

PR-DUB complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8IXJ9
ensembl:ENSP00000364839

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR026905

F

Seeded From UniProt

complete

involved_in

GO:0006351

transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR007759

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR007759

P

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0006325

chromatin organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0156

P

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 Cho, YS et al. (2006) Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J. Biol. Chem. 281 17588-98 PubMed GONUTS page
  2. ↑ 2.0 2.1 Moon, S et al. (2015) Role of Asxl1 in kidney podocyte development via its interaction with Wtip. Biochem. Biophys. Res. Commun. 466 560-6 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 Park, UH et al. (2011) Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}. J. Biol. Chem. 286 1354-63 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  5. ↑ 5.0 5.1 McGinley, AL et al. (2014) Additional sex combs-like family genes are required for normal cardiovascular development. Genesis 52 671-86 PubMed GONUTS page
  6. ↑ Bassett, JH et al. (2012) Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength. PLoS Genet. 8 e1002858 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 Fisher, CL et al. (2010) Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood 115 38-46 PubMed GONUTS page
  8. ↑ Inoue, D et al. (2013) Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations. J. Clin. Invest. 123 4627-40 PubMed GONUTS page
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