SCAF4 - SR-related CTD associated factor 4 Gene

Also Known as SRA4; SFRS15

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57466

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

CTD_bind: RNA polymerase II-binding domain. (59 - 124)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (510 - 573)

  • 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

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
Others SCAF4 NCBI