UniProt functional annotation for Q9H0W5



	UniProt functional annotation for Q9H0W5

UniProt code: Q9H0W5.

Organism: Homo sapiens (Human).

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

Function: Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695). {ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}.

Subunit: Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1 (PubMed:21737058, PubMed:24793695). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats); may link the 3M complex to histone deacetylases including HDAC4 and HDAC5 (PubMed:25752541). {ECO:0000269|PubMed:21737058, ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:25752541}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24793695}.

Tissue specificity: Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver. {ECO:0000269|PubMed:21737058}.

Domain: The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2. {ECO:0000269|PubMed:25752541}.

Disease: 3M syndrome 3 (3M3) [MIM:614205]: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. {ECO:0000269|PubMed:21737058, ECO:0000269|PubMed:23018678}. Note=The disease is caused by variants affecting the gene represented in this entry.

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:		Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695). {ECO:0000269\|PubMed:24793695, ECO:0000269\|PubMed:24793696}.


Subunit:		Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1 (PubMed:21737058, PubMed:24793695). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats); may link the 3M complex to histone deacetylases including HDAC4 and HDAC5 (PubMed:25752541). {ECO:0000269\|PubMed:21737058, ECO:0000269\|PubMed:24793695, ECO:0000269\|PubMed:25752541}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269\|PubMed:24793695}.
Tissue specificity:		Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver. {ECO:0000269\|PubMed:21737058}.
Domain:		The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2. {ECO:0000269\|PubMed:25752541}.
Disease:		3M syndrome 3 (3M3) [MIM:614205]: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. {ECO:0000269\|PubMed:21737058, ECO:0000269\|PubMed:23018678}. Note=The disease is caused by variants affecting the gene represented in this entry.