SRCAP - Snf2 related CREBBP activator protein Gene

Homo sapiens

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

Gene ID: 10847 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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