UniProt functional annotation for Q86XR8



	UniProt functional annotation for Q86XR8

UniProt code: Q86XR8.

Organism: Homo sapiens (Human).

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

Function: Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1. {ECO:0000269|PubMed:22321063}.

Subunit: Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa. {ECO:0000269|PubMed:12717444}.

Subcellular location: Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}.

Tissue specificity: Ubiquitous. {ECO:0000269|PubMed:12717444}.

Domain: The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro. {ECO:0000250}.

Domain: The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization. {ECO:0000250}.

Disease: Mosaic variegated aneuploidy syndrome 2 (MVA2) [MIM:614114]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269|PubMed:21552266}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the translokin family. {ECO:0000305}.

Sequence caution: Sequence=AAH29385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA07654.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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:		Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1. {ECO:0000269\|PubMed:22321063}.


Subunit:		Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa. {ECO:0000269\|PubMed:12717444}.
Subcellular location:		Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269\|PubMed:14654843}.
Tissue specificity:		Ubiquitous. {ECO:0000269\|PubMed:12717444}.
Domain:		The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro. {ECO:0000250}.
Domain:		The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization. {ECO:0000250}.
Disease:		Mosaic variegated aneuploidy syndrome 2 (MVA2) [MIM:614114]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269\|PubMed:21552266}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the translokin family. {ECO:0000305}.
Sequence caution:		Sequence=AAH29385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA07654.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};