SRSF5 (serine and arginine rich splicing factor 5)

Gene

• Entrez ID: 6430
• Gene name: Serine and arginine rich splicing factor 5
• Gene symbol: SRSF5
• Synonyms (NCBI Gene): HRS, SFRS5, SRP40
• 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

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
MIRT1390810	hsa-miR-1276	CLIP-seq
MIRT1390811	hsa-miR-1283	CLIP-seq
MIRT1390812	hsa-miR-198	CLIP-seq
MIRT1390813	hsa-miR-3065-5p	CLIP-seq
MIRT1390814	hsa-miR-3127-3p	CLIP-seq
MIRT1390815	hsa-miR-323-5p	CLIP-seq
MIRT1390816	hsa-miR-338-3p	CLIP-seq
MIRT1390817	hsa-miR-4311	CLIP-seq
MIRT1390818	hsa-miR-4530	CLIP-seq
MIRT1390819	hsa-miR-4690-3p	CLIP-seq
MIRT1390820	hsa-miR-4725-5p	CLIP-seq
MIRT1390821	hsa-miR-4780	CLIP-seq
MIRT1390822	hsa-miR-504	CLIP-seq
MIRT1390823	hsa-miR-520d-5p	CLIP-seq
MIRT1390824	hsa-miR-524-5p	CLIP-seq
MIRT1390825	hsa-miR-570	CLIP-seq
MIRT1390826	hsa-miR-583	CLIP-seq
MIRT1390827	hsa-miR-646	CLIP-seq
MIRT1390828	hsa-miR-765	CLIP-seq
MIRT1390829	hsa-miR-876-3p	CLIP-seq
MIRT1390830	hsa-miR-1303	CLIP-seq
MIRT1390831	hsa-miR-1305	CLIP-seq
MIRT1390813	hsa-miR-3065-5p	CLIP-seq
MIRT1390832	hsa-miR-3122	CLIP-seq
MIRT1390814	hsa-miR-3127-3p	CLIP-seq
MIRT1390833	hsa-miR-374c	CLIP-seq
MIRT1390834	hsa-miR-3913-5p	CLIP-seq
MIRT1390835	hsa-miR-3924	CLIP-seq
MIRT1390836	hsa-miR-421	CLIP-seq
MIRT1390837	hsa-miR-451b	CLIP-seq
MIRT1390838	hsa-miR-4666-3p	CLIP-seq
MIRT1390819	hsa-miR-4690-3p	CLIP-seq
MIRT1390820	hsa-miR-4725-5p	CLIP-seq
MIRT1390839	hsa-miR-4766-3p	CLIP-seq
MIRT1390821	hsa-miR-4780	CLIP-seq
MIRT1390822	hsa-miR-504	CLIP-seq
MIRT1390840	hsa-miR-584	CLIP-seq
MIRT1390841	hsa-miR-655	CLIP-seq
MIRT1390809	hsa-miR-1197	CLIP-seq
MIRT1390810	hsa-miR-1276	CLIP-seq
MIRT1390812	hsa-miR-198	CLIP-seq
MIRT2116980	hsa-miR-3143	CLIP-seq
MIRT1390816	hsa-miR-338-3p	CLIP-seq
MIRT1390817	hsa-miR-4311	CLIP-seq
MIRT2116981	hsa-miR-4511	CLIP-seq
MIRT1390818	hsa-miR-4530	CLIP-seq
MIRT1390819	hsa-miR-4690-3p	CLIP-seq
MIRT2116982	hsa-miR-4711-3p	CLIP-seq
MIRT1390820	hsa-miR-4725-5p	CLIP-seq
MIRT1390821	hsa-miR-4780	CLIP-seq
MIRT1390822	hsa-miR-504	CLIP-seq
MIRT2116983	hsa-miR-543	CLIP-seq
MIRT1390826	hsa-miR-583	CLIP-seq
MIRT1390827	hsa-miR-646	CLIP-seq
MIRT1390828	hsa-miR-765	CLIP-seq
MIRT2633171	hsa-miR-124	CLIP-seq
MIRT1390830	hsa-miR-1303	CLIP-seq
MIRT2633172	hsa-miR-3129-3p	CLIP-seq
MIRT2633173	hsa-miR-3714	CLIP-seq
MIRT2633174	hsa-miR-3910	CLIP-seq
MIRT1390835	hsa-miR-3924	CLIP-seq
MIRT2633175	hsa-miR-4427	CLIP-seq
MIRT2633176	hsa-miR-4680-3p	CLIP-seq
MIRT1390820	hsa-miR-4725-5p	CLIP-seq
MIRT1390821	hsa-miR-4780	CLIP-seq
MIRT1390822	hsa-miR-504	CLIP-seq
MIRT2633177	hsa-miR-506	CLIP-seq
MIRT1390825	hsa-miR-570	CLIP-seq
MIRT2633178	hsa-miR-595	CLIP-seq
MIRT1390835	hsa-miR-3924	CLIP-seq
MIRT1390820	hsa-miR-4725-5p	CLIP-seq
MIRT1390821	hsa-miR-4780	CLIP-seq
MIRT1390822	hsa-miR-504	CLIP-seq
MIRT1390825	hsa-miR-570	CLIP-seq

Gene ontology (GO)

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
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	12762840, 23602568, 32296183, 32707033, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006376	Process	MRNA splice site recognition	TAS	7556075
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	7556075
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	ISS
GO:0032868	Process	Response to insulin	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033120	Process	Positive regulation of RNA splicing	IEA
GO:0043422	Function	Protein kinase B binding	IEA
GO:0097421	Process	Liver regeneration	IEA

Other IDs

• MIM: 600914
• HGNC: 10787
• e!Ensembl: ENSG00000100650

Protein

• UniProt ID: 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
  ELCSERVTIEHARARSRGGRGRGRYSDRFSSRRPRNDRRNAPPVRTENRLIVENLSSRVS
  WQDLKDFMRQAGEVTFADAHRPKLNEGVVEFASYGDLKNAIEKLSGKEINGRKIKLIEGS
  KRHSRSRSRSRSRTRSSSRSRSRSRSRSRKSYSRSRSRSRSRSRSKSRSVSRSPVPEKSQ
  KRGSSSRSKSPASVDRQRSRSRSRSRSVDSGN

• Sequence length: 272

Pathways

KEGG:

Spliceosome
Herpes simplex virus 1 infection

Reactome:

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

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
Phenotype Name	Clinical Significance	Source	Evidence Score
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27565915		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	12594818		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28100959		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	6241212		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29506740		★☆☆☆☆ Found in Text Mining only
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	BEFREE	18611979		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24393808	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17651715		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	24200848		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27565915, 31106485		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31078652, 31676023		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14555530		★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	24200848		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26079416		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31768550, 6241212		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28748382		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28143555		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31777896		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	28536481		★☆☆☆☆ Found in Text Mining only
Hepatorenal Syndrome	Hepatorenal Syndrome	BEFREE	29303765, 29668606, 30871566		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12594818, 1692251		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28844314, 29303765, 30606404		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26711644		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25665148		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17651715		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27565915, 29942010, 31106485		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15735005		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29932968, 29942010		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17651715		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	37515398	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31768550, 6241212		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	9287147		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12444101, 12444102, 12594818, 1692251, 29857020, 29942010		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	12444101		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	12444102		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28861767, 31106485		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19755917		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	21309690		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural Diseases	BEFREE	27565915		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	27565915		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	26670336		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26079416		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	26670336		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15735005		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30871566		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27565915, 31106485		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27565915, 29857020		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	18611979		★☆☆☆☆ Found in Text Mining only