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  2. SRSF3 - serine and arginine rich splicing factor 3 Gene

SRSF3 - serine and arginine rich splicing factor 3 Gene

Homo sapiens

Also known as SFRS3; SRp20

Gene ID: 6428 | Gene type: protein coding

About SRSF3

Cytogenetic location: 6p21.31-p21.2 Genomic coordinates (GRCh38): 6:36,594,362-36,605,600 (from NCBI)

This gene has 8 transcripts (splice variants), 319 orthologues, 8 paralogues and is associated with 50 phenotypes. Ubiquitous expression in bone marrow (RPKM 107.3), lymph node (RPKM 60.0) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

SRSF3 Products(1)

mRNA Protein Name
NM_003017.5 NP_003008.1 serine/arginine-rich splicing factor 3

SRSF3 Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (12 - 77)

  • 0
  • 100
  • 164 a.a.
Protein Preferred Names Protein Names

serine/arginine-rich splicing factor 3

epididymis secretory sperm binding protein

Related Diseases

Diseases Alias
Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4

Autosomal Dominant Non-Syndromic Intellectual Disability 4

Mental Retardation, Autosomal Dominant 4

Autosomal Dominant Intellectual Developmental Disorder 4

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

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
Macaca mulatta SRSF3 VGNC VGNC:77820
Rattus norvegicus SRSF3 RGD RGD:1309233
Canis familiaris SRSF3 VGNC VGNC:46819
Bos taurus SRSF3 VGNC VGNC:35301
Mus musculus SRSF3 MGD MGI:98285