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This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
SRCAP (Snf2 Related CREBBP Activator Protein) is a Protein Coding gene. Diseases associated with SRCAP include Floating-Harbor Syndrome and Expressive Language Disorder. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and histone acetyltransferase activity. An important paralog of this gene is ENSG00000282034.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003713 | transcription coactivator activity | TAS | 10347196 |
GO:0004386 | helicase activity | IEA | -- |
GO:0004402 | histone acetyltransferase activity | TAS | 10347196 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000812 | Swr1 complex | IBA | 21873635 |
GO:0005634 | nucleus | IDA | 10702287 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0016604 | nuclear body | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pathways Affected in Adenoid Cystic Carcinoma |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0006338 | chromatin remodeling | IBA | 21873635 |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 10347196 |
GO:0016032 | viral process | IEA | -- |
GO:0016458 | gene silencing | IBA | 21873635 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SRCAP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SRCAP 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Srcap 30 17 31 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | SRCAP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Srcap 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SRCAP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SRCAP 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15109 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.15976 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | srcap 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | dom 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y111B2A.23 32 |
|
|
|
ssl-1 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SWR1 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10052 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
689791 | Pathogenic: Floating-Harbor syndrome | 30,737,327(+) | C/A | NONSENSE | |
708332 | Benign: not provided | 30,738,933(+) | C/T | MISSENSE_VARIANT | |
710396 | Benign: not provided | 30,711,827(+) | C/A | INTRON_VARIANT | |
711163 | Benign: not provided | 30,724,020(+) | A/C | SYNONYMOUS_VARIANT | |
711649 | Benign: not provided | 30,739,152(+) | T/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
floating-harbor syndrome |
|
|
expressive language disorder |
|
|
chromosome 16p13.3 deletion syndrome, proximal |
|
|
glass syndrome |
|
|
autism spectrum disorder |
|
|