UniProt functional annotation for Q8WWQ0



	UniProt functional annotation for Q8WWQ0

UniProt code: Q8WWQ0.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:12242307, ECO:0000269|PubMed:21834987}.

Subunit: Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine residues on histone H1.4, histone H3 and H4 (in vitro). {ECO:0000250, ECO:0000269|PubMed:22464331}.

Subcellular location: Nucleus {ECO:0000250}.

Tissue specificity: Expressed in myeloma and epidermoid carcinoma cell lines. {ECO:0000269|PubMed:11018022}.

Disease: Chung-Jansen syndrome (CHUJANS) [MIM:617991]: An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:27900362, ECO:0000269|PubMed:29209020}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC11417.1; Type=Frameshift; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269\|PubMed:12242307, ECO:0000269\|PubMed:21834987}.


Subunit:		Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine residues on histone H1.4, histone H3 and H4 (in vitro). {ECO:0000250, ECO:0000269\|PubMed:22464331}.
Subcellular location:		Nucleus {ECO:0000250}.
Tissue specificity:		Expressed in myeloma and epidermoid carcinoma cell lines. {ECO:0000269\|PubMed:11018022}.
Disease:		Chung-Jansen syndrome (CHUJANS) [MIM:617991]: An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features. {ECO:0000269\|PubMed:23033978, ECO:0000269\|PubMed:27900362, ECO:0000269\|PubMed:29209020}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC11417.1; Type=Frameshift; Evidence={ECO:0000305};