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SRCAP - Snf2 related CREBBP activator protein Gene

Also Known as EAF1; FLHS; SWR1; DOMO1; DEHMBA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10847

About SRCAP

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,699,171-30,741,409 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues, 30 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 12.4), spleen (RPKM 11.6) and 25 other tissues.

Summary

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 Products (1)

mRNA	Protein	Name
NM_006662.3	NP_006653.2	helicase SRCAP

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10702287	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	10702287	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	10702287	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	14966270	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SRCAP Protein Structure

HSA

SNF2_N

Helicase_C

0
500
1000
1500
2000
2500
3000
3230 a.a.

Protein Preferred Names	Protein Names
helicase SRCAP	Snf2-related CBP activator protein

Related Diseases

Diseases	Alias
Floating-Harbor Syndrome	FLHS Fhs Pelletier-Leisti Syndrome Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes Leisti-Hollander-Rimoin Syndrome
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	DEHMBA
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Expressive Language Disorder	Developmental Expressive Language Disorder
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability Rts
Ohdo Syndrome, Sbbys Variant	Say-Barber-Biesecker-Young-Simpson Syndrome SBBYSS Young-Simpson Syndrome Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type Yss Sbbys Variant Of Ohdo Syndrome Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type Young Simpson Syndrome Sbbyss Syndrome Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type Bmrs Sbbys Ohdo Syndrome, Say-Barber-Biesecker Variant Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome Say-Barber-Biesecker Variant Of Ohdo Syndrome
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Sotos Syndrome 2	Sotos2 Sotos Syndrome, Type 2
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Marshall-Smith Syndrome	MRSHSS Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome Mss
Ohdo Syndrome	Young Simpson Syndrome Ohdo Blepharophimosis Syndrome Blepharophimosis Syndrome Ohdo Type Blepharophimosis Intellectual Disability Syndromes Bmrs Blepharophimosis-Intellectual Disability Syndrome Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth Sbbys Syndrome Say Barber Biesecker Young-Simpson Syndrome Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type Bmrs, Ohdo Type Blepharophimosis Syndrome, Ohdo Type Ohdo-Madokoro-Sonoda Syndrome Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type Blepharophimosis - Intellectual Disability Syndrome
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Scoliosis
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13752	SRCAP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SRCAP	MGD	MGI:2444036
Rattus norvegicus	SRCAP	RGD	RGD:1565642
Macaca mulatta	SRCAP	VGNC	VGNC:104756
Others	SRCAP	NCBI