Tissue expression of ASXL1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	ASXL1
Gene description	Additional sex combs like transcriptional regulator 1
Protein class	Cancer-related genes Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	ASXL1 (HGNC Symbol)
Synonyms	KIAA0978
Description	Additional sex combs like transcriptional regulator 1 (HGNC Symbol)
Entrez gene 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]
Chromosome	20
Cytoband	q11.21
Chromosome location (bp)	32358344 - 32439319
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000171456 (version 83.38)
Entrez gene	171023
UniProt	Q8IXJ9 (UniProt - Evidence at protein level)
neXtProt	NX_Q8IXJ9
Antibodypedia	ASXL1 antibodies

PROTEIN BROWSER

ASXL1-001	ASXL1-002	ASXL1-003	ASXL1-005	ASXL1-201	ASXL1-202	ASXL1-203	ASXL1-204

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ASXL1-001 ENSP00000364839 ENST00000375687	Q8IXJ9 [Direct mapping] Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0003007 [heart morphogenesis] GO:0003677 [DNA binding] GO:0003713 [transcription coactivator activity] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0032526 [response to retinoic acid] GO:0035359 [negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035517 [PR-DUB complex] GO:0035522 [monoubiquitinated histone H2A deubiquitination] GO:0042974 [retinoic acid receptor binding] GO:0042975 [peroxisome proliferator activated receptor binding] GO:0045599 [negative regulation of fat cell differentiation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048386 [positive regulation of retinoic acid receptor signaling pathway] GO:0048387 [negative regulation of retinoic acid receptor signaling pathway] GO:0060348 [bone development] GO:0060430 [lung saccule development] GO:0070062 [extracellular exosome] Show all	1541 aa 165.4 kDa	No	0
ASXL1-002 ENSP00000364841 ENST00000375689	Q5JWS8 [Direct mapping] Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] Show all	81 aa 8.9 kDa	No	0
ASXL1-003 ENSP00000451216 ENST00000497249	H0YJC9 [Direct mapping] Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] Show all	74 aa 8 kDa	No	0
ASXL1-005 ENSP00000480361 ENST00000555343	A0A087WWN0 [Direct mapping] Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] Show all	57 aa 6.3 kDa	No	0
ASXL1-201 ENSP00000305119 ENST00000306058	Q76L82 [Direct mapping] Additional sex combs like 1 (Drosophila), isoform CRA_d; Polycomb group protein; Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] Show all	1536 aa 164.6 kDa	No	0
ASXL1-202 ENSP00000438654 ENST00000542461	Q498B9 [Direct mapping] ASXL1 protein; Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] Show all	85 aa 9.6 kDa	No	0
ASXL1-203 ENSP00000480487 ENST00000613218	Q8IXJ9 [Direct mapping] Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0003677 [DNA binding] GO:0003713 [transcription coactivator activity] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0032526 [response to retinoic acid] GO:0035359 [negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035517 [PR-DUB complex] GO:0035522 [monoubiquitinated histone H2A deubiquitination] GO:0042974 [retinoic acid receptor binding] GO:0042975 [peroxisome proliferator activated receptor binding] GO:0045599 [negative regulation of fat cell differentiation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048386 [positive regulation of retinoic acid receptor signaling pathway] GO:0048387 [negative regulation of retinoic acid receptor signaling pathway] GO:0070062 [extracellular exosome] Show all	1541 aa 165.4 kDa	No	0
ASXL1-204 ENSP00000481978 ENST00000620121	Q8IXJ9 [Direct mapping] Putative Polycomb group protein ASXL1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0003677 [DNA binding] GO:0003713 [transcription coactivator activity] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0032526 [response to retinoic acid] GO:0035359 [negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035517 [PR-DUB complex] GO:0035522 [monoubiquitinated histone H2A deubiquitination] GO:0042974 [retinoic acid receptor binding] GO:0042975 [peroxisome proliferator activated receptor binding] GO:0045599 [negative regulation of fat cell differentiation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048386 [positive regulation of retinoic acid receptor signaling pathway] GO:0048387 [negative regulation of retinoic acid receptor signaling pathway] GO:0070062 [extracellular exosome] Show all	1541 aa 165.4 kDa	No	0