Human Gene SRCAP (ENST00000262518.9) Description and Page Index
  Description: Homo sapiens Snf2 related CREBBP activator protein (SRCAP), mRNA. (from RefSeq NM_006662)
Gencode Transcript: ENST00000262518.9
Gencode Gene: ENSG00000080603.17
Transcript (Including UTRs)
   Position: hg38 chr16:30,699,171-30,741,409 Size: 42,239 Total Exon Count: 34 Strand: +
Coding Region
   Position: hg38 chr16:30,700,825-30,739,733 Size: 38,909 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsProtein StructureOther NamesMethods
Data last updated at UCSC: 2021-06-20 19:51:40

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:30,699,171-30,741,409)mRNA (may differ from genome)Protein (3230 aa)
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-  Comments and Description Text from UniProtKB
  ID: SRCAP_HUMAN
DESCRIPTION: RecName: Full=Helicase SRCAP; EC=3.6.4.-; AltName: Full=Domino homolog 2; AltName: Full=Snf2-related CBP activator;
FUNCTION: Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=66 uM for ATP;
SUBUNIT: Interacts with CREBBP and EP300. May be part of a complex containing SRCAP, CREBBP, CARM1 and GRIP1. Component of the chromatin-remodeling SRCAP complex composed of at least SRCAP, DMAP1, RUVBL1, RUVBL2, ACTL6A, YEATS4, VPS72, ACTR6 and ZNHIT1. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with hepatitis C virus (HCV) NS5A and human adenovirus 2 DBP.
SUBCELLULAR LOCATION: Nucleus.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in SRCAP are the cause of Floating-Harbor syndrome (FLHS) [MIM:136140]. A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.
SIMILARITY: Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily.
SIMILARITY: Contains 3 A.T hook DNA-binding domains.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SIMILARITY: Contains 1 HSA domain.
SEQUENCE CAUTION: Sequence=AAI59100.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

+  Protein Domain and Structure Information
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-  Other Names for This Gene
  UCSC ID: ENST00000262518.9
Representative RNA: NM_006662
Protein: Q6ZRS2 (aka SRCAP_HUMAN)

-  Methods, Credits, and Use Restrictions
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