ASXL1 ASXL transcriptional regulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASXL1provided by HGNC
Official Full Name: ASXL transcriptional regulator 1provided by HGNC
Primary source: HGNC:HGNC:18318
See related: Ensembl:ENSG00000171456 MIM:612990; AllianceGenome:HGNC:18318
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDS; BOPS
Summary: This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Expression: Ubiquitous expression in testis (RPKM 13.2), lymph node (RPKM 9.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (32358331..32439319)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (34083215..34164178)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (30946134..31027122)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms].
Title: [Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms].
Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.
Title: Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.
Clonal haematopoiesis of indeterminate potential and atrial fibrillation: an east Asian cohort study.
Title: Clonal haematopoiesis of indeterminate potential and atrial fibrillation: an east Asian cohort study.
Altered erythropoiesis via JAK2 and ASXL1 mutations in myeloproliferative neoplasms.
Title: Altered erythropoiesis via JAK2 and ASXL1 mutations in myeloproliferative neoplasms.
Comprehensive genomic profiling reveals molecular subsets of ASXL1-mutated myeloid neoplasms.
Title: Comprehensive genomic profiling reveals molecular subsets of ASXL1-mutated myeloid neoplasms.
ASXL1 mutation is a novel risk factor for bleeding in Philadelphia-negative myeloproliferative neoplasms.
Title: ASXL1 mutation is a novel risk factor for bleeding in Philadelphia-negative myeloproliferative neoplasms.
Targeting lysine demethylase 6B ameliorates ASXL1 truncation-mediated myeloid malignancies in preclinical models.
Title: Targeting lysine demethylase 6B ameliorates ASXL1 truncation-mediated myeloid malignancies in preclinical models.
Prognostic value of ASXL1 mutations in patients with myelodysplastic syndromes and acute myeloid leukemia: A meta-analysis.
Title: Prognostic value of ASXL1 mutations in patients with myelodysplastic syndromes and acute myeloid leukemia: A meta-analysis.
Structural basis of histone H2A lysine 119 deubiquitination by Polycomb repressive deubiquitinase BAP1/ASXL1.
Title: Structural basis of histone H2A lysine 119 deubiquitination by Polycomb repressive deubiquitinase BAP1/ASXL1.
Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression.
Title: Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression.

Submit: New GeneRIF Correction See all GeneRIFs (182)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bohring-Opitz syndrome MedGen: C0796232 OMIM: 605039 GeneReviews: Bohring-Opitz Syndrome	Compare labs
Myelodysplastic syndrome MedGen: C3463824 OMIM: 614286 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2013-03-14) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-03-14) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12044 (e-PCR)
- UniSTS:79623

RH66092 (e-PCR)
- UniSTS:9741

Z94311 (e-PCR)
- UniSTS:48430

A004G33 (e-PCR)
- UniSTS:17457

D20S1023 (e-PCR)
- UniSTS:39496

RH92532 (e-PCR)
- UniSTS:84344

SHGC-37583 (e-PCR)
- UniSTS:24482

ASXL1_4386 (e-PCR)
- UniSTS:463550

RH64149 (e-PCR)
- UniSTS:79835

D20S200 (e-PCR)
- UniSTS:2525

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear retinoic acid receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables peroxisome proliferator activated receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables peroxisome proliferator activated receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone marrow development	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells	IEA Inferred from Electronic Annotation more info
involved_in lung saccule development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in podocyte development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of retinoic acid receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of kidney size	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in thymus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of PR-DUB complex	IBA Inferred from Biological aspect of Ancestor more info
part_of PR-DUB complex	IDA Inferred from Direct Assay more info	PubMed
part_of PR-DUB complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: polycomb group protein ASXL1

Names: additional sex combs like 1, transcriptional regulator; additional sex combs like transcriptional regulator 1; putative Polycomb group protein ASXL1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027868.1 RefSeqGene

Range

5001..85976

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_630

mRNA and Protein(s)

NM_001164603.1 → NP_001158075.1 polycomb group protein ASXL1 isoform 2

See identical proteins and their annotated locations for NP_001158075.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and lacks several exons in the 3' coding region, but contains an alternate 3' exon, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC100280, CR977683

Consensus CDS

CCDS86944.1

UniProtKB/TrEMBL

Q498B9

Related

ENSP00000493987.1, ENST00000646367.1

Conserved Domains (1) summary

pfam05066
Location:11 → 83

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
NM_001363734.1 → NP_001350663.1 polycomb group protein ASXL1 isoform 3

Status: REVIEWED

Source sequence(s)

AK122923, AL034550, BC137280, BU686340

Consensus CDS

CCDS86945.1

UniProtKB/TrEMBL

A0A2R8Y5U1, B3KVI8

Related

ENSP00000495053.1, ENST00000646985.1

Conserved Domains (3) summary

pfam13922
Location:1445 → 1478

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam05066
Location:9 → 73

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:176 → 298

ASXH; Asx homology domain
NM_015338.6 → NP_056153.2 polycomb group protein ASXL1 isoform 1

See identical proteins and their annotated locations for NP_056153.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL034550, AL121583, BC137280, BU686340

Consensus CDS

CCDS13201.1

UniProtKB/Swiss-Prot

B2RP59, Q5JWS9, Q8IXJ9, Q8IYY7, Q9H466, Q9NQF8, Q9UFJ0, Q9UFP8, Q9Y2I4

UniProtKB/TrEMBL

A6NIZ6, Q76L82

Related

ENSP00000364839.4, ENST00000375687.10

Conserved Domains (3) summary

pfam13922
Location:1506 → 1539

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam05066
Location:11 → 83

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:236 → 359

ASXH; Asx homology domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

32358331..32439319

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006723727.4 → XP_006723790.1 polycomb group protein ASXL1 isoform X2

See identical proteins and their annotated locations for XP_006723790.1

UniProtKB/TrEMBL

A6NIZ6, Q76L82

Conserved Domains (3) summary

pfam13922
Location:1505 → 1538

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam05066
Location:11 → 82

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:235 → 358

ASXH; Asx homology domain
XM_047439945.1 → XP_047295901.1 polycomb group protein ASXL1 isoform X7
XM_011528648.4 → XP_011526950.1 polycomb group protein ASXL1 isoform X1

UniProtKB/TrEMBL

A6NIZ6, Q76L82

Conserved Domains (3) summary

pfam13922
Location:1593 → 1626

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam05066
Location:106 → 170

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:323 → 446

ASXH; Asx homology domain
XM_047439942.1 → XP_047295898.1 polycomb group protein ASXL1 isoform X6
XM_047439944.1 → XP_047295900.1 polycomb group protein ASXL1 isoform X6
XM_047439939.1 → XP_047295895.1 polycomb group protein ASXL1 isoform X3
XM_006723728.4 → XP_006723791.1 polycomb group protein ASXL1 isoform X4

UniProtKB/TrEMBL

A6NIZ6, Q76L82

Conserved Domains (3) summary

pfam13922
Location:1496 → 1529

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam05066
Location:9 → 73

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:226 → 349

ASXH; Asx homology domain
XM_047439940.1 → XP_047295896.1 polycomb group protein ASXL1 isoform X5

Related

ENSP00000305119.5, ENST00000306058.9
XM_047439941.1 → XP_047295897.1 polycomb group protein ASXL1 isoform X6
XM_047439943.1 → XP_047295899.1 polycomb group protein ASXL1 isoform X6
XM_006723730.5 → XP_006723793.1 polycomb group protein ASXL1 isoform X6

See identical proteins and their annotated locations for XP_006723793.1

UniProtKB/TrEMBL

A6NIZ6, Q76L82

Conserved Domains (3) summary

pfam13922
Location:1478 → 1511

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam05066
Location:1 → 55

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:208 → 331

ASXH; Asx homology domain
XM_006723733.2 → XP_006723796.1 polycomb group protein ASXL1 isoform X8

UniProtKB/TrEMBL

B3KVI8

Conserved Domains (2) summary

pfam13922
Location:1278 → 1311

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam13919
Location:11 → 131

ASXH; Asx homology domain