Gene Gene information from NCBI Gene database.
Entrez ID 6430
Gene name Serine and arginine rich splicing factor 5
Gene symbol SRSF5
Synonyms (NCBI Gene)
HRSSFRS5SRP40
Chromosome 14
Chromosome location 14q24.1
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
miRNA miRNA information provided by mirtarbase database.
79
miRTarBase ID miRNA Experiments Reference
MIRT023067 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT024020 hsa-miR-1-3p Proteomics 18668040
MIRT049180 hsa-miR-92a-3p CLASH 23622248
MIRT036252 hsa-miR-1236-3p CLASH 23622248
MIRT1390809 hsa-miR-1197 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000375 Process RNA splicing, via transesterification reactions IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0001889 Process Liver development IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600914 10787 ENSG00000100650
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13243
Protein name Serine/arginine-rich splicing factor 5 (Delayed-early protein HRS) (Pre-mRNA-splicing factor SRP40) (Splicing factor, arginine/serine-rich 5)
Protein function Plays a role in constitutive splicing and can modulate the selection of alternative splice sites.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 6 68 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 110 175 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MSGCRVFIGRLNPAAREKDVERFFKGYGRIRDIDLKRGFGFVEFEDPRDADDAVYELDGK
ELCSERVT
IEHARARSRGGRGRGRYSDRFSSRRPRNDRRNAPPVRTENRLIVENLSSRVS
WQDLKDFMRQAGEVTFADAHRPKLNEGVVEFASYGDLKNAIEKLSGKEINGRKIK
LIEGS
KRHSRSRSRSRSRTRSSSRSRSRSRSRSRKSYSRSRSRSRSRSRSKSRSVSRSPVPEKSQ
KRGSSSRSKSPASVDRQRSRSRSRSRSVDSGN
Sequence length 272
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Herpes simplex virus 1 infection
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 31731374, 33142748
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Associate 24393808
★☆☆☆☆
Found in Text Mining only
Meningioma Associate 37515398
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 23284704, 34291726
★☆☆☆☆
Found in Text Mining only