SCAF4 - SR-related CTD associated factor 4 Gene

Homo sapiens

Also known as SRA4; SFRS15

Gene ID: 57466 | Gene type: protein coding

About SCAF4

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:31,671,000-31,732,118 (from NCBI)

This gene has 6 transcripts (splice variants), 237 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 12.8), lymph node (RPKM 10.5) and 25 other tissues.

Summary

This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

SCAF4 Products(3)

mRNA	Protein	Name
NM_001145444.1	NP_001138916.1	SR-related and CTD-associated factor 4 isoform 2
NM_001145445.1	NP_001138917.1	SR-related and CTD-associated factor 4 isoform 3
NM_020706.2	NP_065757.1	SR-related and CTD-associated factor 4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA binding	IDA IDA: Inferred from direct assay	31104839	GOA
enables RNA polymerase II C-terminal domain phosphoserine binding	IDA IDA: Inferred from direct assay	31104839	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled	IDA IDA: Inferred from direct assay	31104839	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	31104839	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

SCAF4 Protein Structure

CTD_bind

RRM_1

0
200
400
600
800
1000
1147 a.a.

Protein Preferred Names

Protein Names

SR-related and CTD-associated factor 4

CTD-binding SR-like protein rA4

Related Diseases

Diseases

Alias

Rare Syndromic Intellectual Disability

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Aec Syndrome	AEC
Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome	Seres-Santamaria Arimany Muniz Syndrome
Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects	Ankyloblepharon Ectodermal Defects Cleft Lip/Palate
Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate	Rapp-Hodgkin Syndrome

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS12476	SCAF4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SCAF4	MGD	MGI:2146350
Macaca mulatta	SCAF4	VGNC	VGNC:77054
Rattus norvegicus	SCAF4	RGD	RGD:727896
Canis familiaris	SCAF4	VGNC	VGNC:53039
Felis catus	SCAF4	VGNC	VGNC:64893
Bos taurus	SCAF4	VGNC	VGNC:52822

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