UniProt functional annotation for Q9P2D1



	UniProt functional annotation for Q9P2D1

UniProt code: Q9P2D1.

Organism: Homo sapiens (Human).

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

Function: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}.

Catalytic activity: Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;

Subunit: May interact with CTCF (PubMed:17603073). Interacts with CHD8 (PubMed:20453063). Interacts with FAM124B (PubMed:23285124). Found in a complex composed of AGO2, CHD7 and FAM172A (By similarity). {ECO:0000250|UniProtKB:A2AJK6, ECO:0000269|PubMed:17603073, ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:23285124}.

Subcellular location: [Isoform 1]: Nucleus {ECO:0000269|PubMed:20453063}.

Subcellular location: [Isoform 3]: Nucleus, nucleolus {ECO:0000269|PubMed:22646239}.

Tissue specificity: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15300250, ECO:0000269|PubMed:22646239}.

Disease: CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. {ECO:0000269|PubMed:15300250, ECO:0000269|PubMed:16400610, ECO:0000269|PubMed:16763960, ECO:0000269|PubMed:18074359, ECO:0000269|PubMed:18445044, ECO:0000269|PubMed:19021638, ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:21554267, ECO:0000269|PubMed:21931733, ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537, ECO:0000269|PubMed:25818041}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. {ECO:0000269|PubMed:17436250}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Disease: Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:18834967, ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 2]: May be due to an intron retention. {ECO:0000305}.

Miscellaneous: [Isoform 3]: Ubiquitous, expression enriched in lung and large intestine. {ECO:0000305}.

Similarity: Belongs to the SNF2/RAD54 helicase family. {ECO:0000305}.

Sequence caution: Sequence=AAH14681.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH53890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH68000.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91113.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91116.1; Type=Erroneous initiation; Note=Truncated 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:		Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269\|PubMed:22646239}.


Catalytic activity:		Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;
Subunit:		May interact with CTCF (PubMed:17603073). Interacts with CHD8 (PubMed:20453063). Interacts with FAM124B (PubMed:23285124). Found in a complex composed of AGO2, CHD7 and FAM172A (By similarity). {ECO:0000250\|UniProtKB:A2AJK6, ECO:0000269\|PubMed:17603073, ECO:0000269\|PubMed:20453063, ECO:0000269\|PubMed:23285124}.
Subcellular location:		[Isoform 1]: Nucleus {ECO:0000269\|PubMed:20453063}.
Subcellular location:		[Isoform 3]: Nucleus, nucleolus {ECO:0000269\|PubMed:22646239}.
Tissue specificity:		Widely expressed in fetal and adult tissues. {ECO:0000269\|PubMed:15300250, ECO:0000269\|PubMed:22646239}.
Disease:		CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. {ECO:0000269\|PubMed:15300250, ECO:0000269\|PubMed:16400610, ECO:0000269\|PubMed:16763960, ECO:0000269\|PubMed:18074359, ECO:0000269\|PubMed:18445044, ECO:0000269\|PubMed:19021638, ECO:0000269\|PubMed:20453063, ECO:0000269\|PubMed:21158681, ECO:0000269\|PubMed:21554267, ECO:0000269\|PubMed:21931733, ECO:0000269\|PubMed:22461308, ECO:0000269\|PubMed:22462537, ECO:0000269\|PubMed:25818041}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. {ECO:0000269\|PubMed:17436250}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease:		Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269\|PubMed:18834967, ECO:0000269\|PubMed:21158681, ECO:0000269\|PubMed:25077900}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 2]: May be due to an intron retention. {ECO:0000305}.
Miscellaneous:		[Isoform 3]: Ubiquitous, expression enriched in lung and large intestine. {ECO:0000305}.
Similarity:		Belongs to the SNF2/RAD54 helicase family. {ECO:0000305}.
Sequence caution:		Sequence=AAH14681.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH53890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH68000.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91113.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91116.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};