UniProt functional annotation for O75400



	UniProt functional annotation for O75400

UniProt codes: O75400, Q9H782.

Organism: Homo sapiens (Human).

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

Function: Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing. {ECO:0000250, ECO:0000269|PubMed:21834987}.

Subunit: Interacts with the N-terminus of HTT. Interacts with the phosphorylated C-terminal domain of POLR2A. Interacts with AKAP8L, SF1, SRPK1, ENAH, ATBF1 and MECP2 (By similarity). Interacts through the WW domains with formin proline-rich regions and with WASL/N-WASP (By similarity). {ECO:0000250}.

Subcellular location: Nucleus speckle {ECO:0000250}. Nucleus matrix {ECO:0000269|PubMed:16391387}. Note=Colocalizes with AKAP8L in the nuclear matrix. {ECO:0000250}.

Tissue specificity: Expressed in the brain cortex (at protein level). Widely expressed. {ECO:0000269|PubMed:16391387, ECO:0000269|PubMed:9700202}.

Domain: The WW domains are essential for localization to nuclear speckles. {ECO:0000250}.

Miscellaneous: [Isoform 5]: Probable target of nonsense-mediated mRNA decay. {ECO:0000305}.

Similarity: Belongs to the PRPF40 family. {ECO:0000305}.

Sequence caution: Sequence=AAC27501.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAC27502.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAC27506.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAD42862.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF36145.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH11788.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 409.; Evidence={ECO:0000305}; Sequence=BAA91277.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15016.1; Type=Miscellaneous discrepancy; 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:		Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing. {ECO:0000250, ECO:0000269\|PubMed:21834987}.


Subunit:		Interacts with the N-terminus of HTT. Interacts with the phosphorylated C-terminal domain of POLR2A. Interacts with AKAP8L, SF1, SRPK1, ENAH, ATBF1 and MECP2 (By similarity). Interacts through the WW domains with formin proline-rich regions and with WASL/N-WASP (By similarity). {ECO:0000250}.
Subcellular location:		Nucleus speckle {ECO:0000250}. Nucleus matrix {ECO:0000269\|PubMed:16391387}. Note=Colocalizes with AKAP8L in the nuclear matrix. {ECO:0000250}.
Tissue specificity:		Expressed in the brain cortex (at protein level). Widely expressed. {ECO:0000269\|PubMed:16391387, ECO:0000269\|PubMed:9700202}.
Domain:		The WW domains are essential for localization to nuclear speckles. {ECO:0000250}.
Miscellaneous:		[Isoform 5]: Probable target of nonsense-mediated mRNA decay. {ECO:0000305}.
Similarity:		Belongs to the PRPF40 family. {ECO:0000305}.
Sequence caution:		Sequence=AAC27501.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAC27502.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAC27506.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAD42862.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF36145.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH11788.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 409.; Evidence={ECO:0000305}; Sequence=BAA91277.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15016.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};