V体育安卓版 - ASXL3 ASXL transcriptional regulator 3 [ Homo sapiens (human) ]

Gene ID: 80816, updated on 5-Sep-2025

Summary

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Official Symbol: ASXL3provided by HGNC
Official Full Name: ASXL transcriptional regulator 3provided by HGNC
Primary source: HGNC:HGNC:29357
See related: Ensembl:ENSG00000141431 MIM:615115; AllianceGenome:HGNC:29357
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: BRPS; KIAA1713
Summary: This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
Expression: Biased expression in testis (RPKM 1.6), ovary (RPKM 1.3) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

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See ASXL3 in Genome Data Viewer

Location:: 18q12.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (33578219..33751195)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (33769917..33942920)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (31158183..31331159)

Chromosome 18 - NC_000018. 10 VSports最新版本.

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence: NC_000018. 10 Chromosome 18 Reference GRCh38 V体育平台登录. p14 Primary Assembly NG_055244. 1 RefSeqGene NC_060942. 1 Chromosome 18 Alternate T2T-CHM13v2. 0 NC_000018. 9 Chromosome 18 Reference GRCh37. p13 Primary Assembly .

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

"VSports最新版本" Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Title: "VSports最新版本" Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Title: Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Title: Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.
Title: ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
Title: Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.
Title: Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.
VSports最新版本 - Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Title: VSports最新版本 - Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Truncating de novo mutations in ASXL3 cause Bainbridge-Ropers syndrome (BRPS), a developmental disorder with similarities to Bohring-Opitz syndrome. to our knowledge, this is the first report of the disorder in two related individuals. Our findings lend further support to intellectual disability, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of Bainbridge-Ropers f
Title: A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Somatic mutations in AZXL3 were associated with sporadic parathyroid adenomas in a Chinese population.
Title: Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.
A second mutation cluster region within ASXL3 in older patients with Bainbridge-Ropers syndrome expands the phenotypic spectrum of the disorder and highlights its high frequency.
Title: Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Submit: New GeneRIF Correction See all GeneRIFs (18)

"V体育平台登录" 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
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MedGen: C4750837 OMIM: 615485 GeneReviews: ASXL3-Related Disorder	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2017-11-22) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-11-22) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function phenotypes in a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of additional sex combs like 3 (ASXL3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions (V体育官网入口)

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

V体育ios版 - General gene information

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Markers

D18S456 (e-PCR), detects polymorphism
- V体育2025版 - UniSTS:9535

D18S456 (e-PCR), detects polymorphism
- UniSTS:82034

D18S830 (e-PCR)
- UniSTS:25542

RH118571 (e-PCR)
- UniSTS:137970 (V体育官网)

Homology

NCBI Orthologs

Orthologs from OrthoDB

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 peroxisome proliferator activated receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of lipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	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
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: putative Polycomb group protein ASXL3

Names: additional sex combs like 3, transcriptional regulator; additional sex combs like transcriptional regulator 3; additional sex combs-like protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds V体育官网. 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 VSports手机版. .

Genomic

NG_055244.1 RefSeqGene

Range

4643..177619

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V体育官网入口 - GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030632. 3 → NP_085135 V体育安卓版. 1 putative Polycomb group protein ASXL3.

See identical proteins and their annotated locations for NP_085135. 1 V体育ios版.

Status: REVIEWED

Source sequence(s)

AC010798, AC023192, AK131454, BE145544, DB090653

Consensus CDS

CCDS45847.1

UniProtKB/Swiss-Prot

Q6ZMX6, Q96MU3, Q9C0F0, Q9UFC5

UniProtKB/TrEMBL

A0A7P0TAE5

Related

ENSP00000269197.4, ENST00000269197.12

Conserved Domains (3) summary

pfam05066
Location:11 → 81

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

pfam13919
Location:235 → 358

ASXH; Asx homology domain

pfam13922
Location:2191 → 2246

PHD_3; PHD domain of transcriptional enhancer, Asx

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

33578219..33751195

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

"V体育ios版" XM_005258356.2 → XP_005258413.1 putative Polycomb group protein ASXL3 isoform X1

UniProtKB/TrEMBL

A0A7P0TAE5, A0A8V8TKV8

Conserved Domains (3) summary

pfam05066
Location:11 → 82

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

pfam13919
Location:236 → 359

ASXH; Asx homology domain

pfam13922
Location:2192 → 2247

PHD_3; PHD domain of transcriptional enhancer, Asx
XM_011526205.3 → XP_011524507.1 putative Polycomb group protein ASXL3 isoform X2

UniProtKB/TrEMBL

A0A7P0TAE5

Conserved Domains (3) summary

pfam05066
Location:8 → 73

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

pfam13919
Location:227 → 350

ASXH; Asx homology domain

pfam13922
Location:2183 → 2238

PHD_3; PHD domain of transcriptional enhancer, Asx
XM_017026012.1 (VSports app下载) → XP_016881501.1 putative Polycomb group protein ASXL3 isoform X3

UniProtKB/TrEMBL

A0A7P0TAE5

Conserved Domains (3) summary

pfam05066
Location:1 → 55

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

pfam13919
Location:209 → 332

ASXH; Asx homology domain

pfam13922
Location:2165 → 2220

PHD_3; PHD domain of transcriptional enhancer, Asx
XM_011526206.3 → XP_011524508.1 putative Polycomb group protein ASXL3 isoform X3

See identical proteins and their annotated locations for XP_011524508.1

UniProtKB/TrEMBL

A0A7P0TAE5

Conserved Domains (3) summary

pfam05066
Location:1 → 55

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

pfam13919
Location:209 → 332

ASXH; Asx homology domain

pfam13922
Location:2165 → 2220

PHD_3; PHD domain of transcriptional enhancer, Asx
XM_024451269.2 → XP_024307037.1 putative Polycomb group protein ASXL3 isoform X4

UniProtKB/TrEMBL

A0A7P0TAE5

Conserved Domains (4) summary

pfam13919
Location:179 → 302

ASXH; Asx homology domain

pfam13922
Location:2135 → 2190

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam15712
Location:643 → 913

NPAT_C; NPAT C terminus

cl28246
Location:338 → 720

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
XM_011526209.2 → XP_011524511.1 putative Polycomb group protein ASXL3 isoform X4

See identical proteins and their annotated locations for XP_011524511.1

UniProtKB/TrEMBL

A0A7P0TAE5

Conserved Domains (4) summary

pfam13919
Location:179 → 302

ASXH; Asx homology domain

pfam13922
Location:2135 → 2190

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam15712
Location:643 → 913

NPAT_C; NPAT C terminus

cl28246
Location:338 → 720

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
"VSports在线直播" XM_011526212.2 → XP_011524514.1 putative Polycomb group protein ASXL3 isoform X4

See identical proteins and their annotated locations for XP_011524514.1

UniProtKB/TrEMBL

A0A7P0TAE5

Conserved Domains (4) summary

pfam13919
Location:179 → 302

ASXH; Asx homology domain

pfam13922
Location:2135 → 2190

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam15712
Location:643 → 913

NPAT_C; NPAT C terminus

cl28246
Location:338 → 720

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

33769917..33942920

Download

"V体育安卓版" GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319224.1 → XP_054175199.1 putative Polycomb group protein ASXL3 isoform X1

UniProtKB/TrEMBL

A0A7P0TAE5
"V体育2025版" XM_054319225.1 → XP_054175200.1 putative Polycomb group protein ASXL3 isoform X2

UniProtKB/TrEMBL

A0A7P0TAE5
XM_054319226.1 → XP_054175201.1 putative Polycomb group protein ASXL3 isoform X3

UniProtKB/TrEMBL

A0A7P0TAE5
XM_054319227.1 → XP_054175202.1 putative Polycomb group protein ASXL3 isoform X3

UniProtKB/TrEMBL

A0A7P0TAE5
"V体育官网" XM_054319229.1 → XP_054175204.1 putative Polycomb group protein ASXL3 isoform X4

UniProtKB/TrEMBL

A0A7P0TAE5
XM_054319228.1 → XP_054175203.1 putative Polycomb group protein ASXL3 isoform X4

UniProtKB/TrEMBL

A0A7P0TAE5
XM_054319230.1 → XP_054175205.1 putative Polycomb group protein ASXL3 isoform X4

UniProtKB/TrEMBL

A0A7P0TAE5