ASXL1

protein-coding gene in the species Homo sapiens

DBpedia resource is: http://dbpedia.org/resource/ASXL1

Abstract is: Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene. In Drosophila, the Additional sex combs (Asx) gene 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. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene.

ASXL1 is …

gene

protein-coding gene

External links are

P11277	CIViC gene ID	68
P594	Ensembl gene ID	ENSG00000171456
P704	Ensembl transcript ID	ENST00000306058
		ENST00000375687
		ENST00000375689
		ENST00000470145
		ENST00000497249
		ENST00000553345
		ENST00000555343
		ENST00000555564
		ENST00000613218
		ENST00000619344
		ENST00000620121
		ENST00000642676
		ENST00000643168
		ENST00000644060
		ENST00000644168
		ENST00000644587
		ENST00000644615
		ENST00000645035
		ENST00000645337
		ENST00000645514
		ENST00000645688
		ENST00000646367
		ENST00000646985
		ENST00000647223
		ENST00000649901
		ENST00000651418
P351	Entrez Gene ID	171023
P2888	exact match	http://identifiers.org/ncbigene/171023
P646	Freebase ID	/m/03hmn1k
P353	HGNC gene symbol	ASXL1
P354	HGNC ID	18318
P593	HomoloGene ID	9098
P492	OMIM ID	612990
		612990
P639	RefSeq RNA ID	NM_001164603
		NM_001363734
		NM_015338
		XM_006723727
		XM_006723728
		XM_006723730
		XM_006723733
		XM_011528648
		XM_011528652
		XM_017027704
		XM_017027705
		XM_017027706
P2892	UMLS CUI	C1425445

P1057	chromosome	human chromosome 20	Q666752
P4196	cytogenetic location	20q11.21
P688	encodes	ASXL transcriptional regulator 1	Q21116525
P5572	expressed in	sural nerve	Q6135922
		oocyte	Q3246226
		body of pancreas	Q4936946
		sperm	Q17145
		gastric mucosa	Q383249
		ventricular zone	Q28455175
		right testis	Q66502829
		left testis	Q66502830
		left lobe of thyroid gland	Q66508049
		epithelium of colon	Q66714209
P703	found in taxon	Homo sapiens	Q15978631
P2293	genetic association	myelodysplastic syndrome	Q954625
		Bohring-Opitz syndrome	Q4938225
		acute myeloid leukemia	Q264118
P645	genomic end	31027122
		32439319
P644	genomic start	30946155
		32358330
P684	ortholog	Asxl1	Q24405618
		Asxl1	Q18297640
P2548	strand orientation	forward strand	Q22809680

Wikimedia Commons Images

P692: Gene Atlas image

FileName: PBB GE ASXL1 212234 at fs.png

Description: Gene expression pattern of the ASXL1 gene.

Artist: AndrewGNF at en.wikipedia

Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.

P692: Gene Atlas image

FileName: PBB GE ASXL1 212237 at fs.png

Description: Gene expression pattern of the ASXL1 gene.

Artist: AndrewGNF at English Wikipedia

Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.

P692: Gene Atlas image

FileName: PBB GE ASXL1 212238 at fs.png

Description: Gene expression pattern of the ASXL1 gene.

Artist: AndrewGNF at en.wikipedia

Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.

Reverse relations

regulates (molecular biology) (P128)

Q27595030	hsa-miR-1207-5p
Q27595254	hsa-miR-1321
Q27594280	hsa-miR-149-3p
Q27593307	hsa-miR-15a-5p
Q27594548	hsa-miR-15b-5p
Q27593305	hsa-miR-16-5p
Q27593625	hsa-miR-193b-3p
Q27593706	hsa-miR-195-5p
Q27594012	hsa-miR-3190-3p
Q27593246	hsa-miR-331-3p
Q27594139	hsa-miR-3681-5p
Q27594453	hsa-miR-4270
Q27594273	hsa-miR-4441
Q27594820	hsa-miR-4463
Q27593766	hsa-miR-4728-5p
Q27593808	hsa-miR-4736
Q27593845	hsa-miR-4739
Q27594321	hsa-miR-4756-5p
Q27594439	hsa-miR-4763-3p
Q27593639	hsa-miR-484
Q27592829	hsa-miR-6077
Q27592764	hsa-miR-6732-5p
Q27593134	hsa-miR-6754-5p
Q27593835	hsa-miR-6785-5p
Q27594797	hsa-miR-6835-5p
Q27595061	hsa-miR-6849-5p
Q27593713	hsa-miR-6883-5p
Q27593582	hsa-miR-7-5p
Q27595140	hsa-miR-7150

genetic association (P2293)

Q4938225	Bohring-Opitz syndrome
Q264118	acute myeloid leukemia
Q954625	myelodysplastic syndrome

biological variant of (P3433)

Q28532458	ASXL1 EXON 12 MUTATION
Q28444953	ASXL1 Mutation

ortholog (P684)

Q18297640	Asxl1
Q24405618	Asxl1

Q21116525

ASXL transcriptional regulator 1

encoded by

P702

The articles in Wikimedia projects and languages

Arabic (ar / Q13955)	ASXL1	wikipedia
Egyptian Arabic (arz / Q29919)	ASXL1	wikipedia
	ASXL1	wikipedia
Tatar language (tt / Q25285)	ASXL1	wikipedia
	ASXL1	wikipedia

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