• Gene id: 84530

Gene Summary

• Gene Symbol: SRRM4   Gene   UCSC   Ensembl
• Aliases: KIAA1853, MU-MB-2.76, nSR100
• Gene name: serine/arginine repetitive matrix 4
• Alternate names: serine/arginine repetitive matrix protein 4, medulloblastoma antigen MU-MB-2.76, neural-specific SR-related protein of 100 kDa, neural-specific serine/arginine repetitive splicing factor of 100 kDa,
• Gene location: 12q24.23 (118981540: 119163050)     Exons: 13     NC_000012.12
• Gene summary(Entrez): SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]
• OMIM: 614353

Protein Summary

• Protein general information: A7MD48  
  • Name: Serine/arginine repetitive matrix protein 4 (Medulloblastoma antigen MU MB 2.76) (Neural specific serine/arginine repetitive splicing factor of 100 kDa) (Neural specific SR related protein of 100 kDa) (nSR100)
  • Length: 611  
  • Mass: 68559
  • Tissue specificity: Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum. {ECO
• Sequence:

  MASVQQGEKQLFEKFWRGTFKAVATPRPESIIVASITARKPLPRTEPQNNPVVPAQDGPSEKLGQHLATEPLGTN
  SWERDKTCRELGATRGHSASHDKDLTPPPSSRGKKKKKKSTRKKRRRSSSYSPSPVKKKKKKSSKKHKRRRSFSK
  KRRHSSSSPKSKRRDEKRHKKQSRSRPRKSHRHRHHRCPSRSQSSESRPSSCESRHRGRSPEEGQKSRRRHSRRC
  SKTLCKDSPEAQSSRPPSQPLQMLGYLSARGVITGSGSAADLFTKTASPLTTSRGRSQEYDSGNDTSSPPSTQTS
  SARSRGQEKGSPSGGLSKSRELNSGNTSDSGNSFTTSSPQNKGAMLENLSPTSRGRESRGFQSPCLECAEVKKSS
  LVPSTARSSPMKGCSRSSSYASTRSSSHSSRSPNPRASPRYTQSRSTSSEKRSYSRSPSYSSKSGKRSPPSRSSR
  SRRSPSYSRYSPSRERDPKYSEKDSQQRERERARRRRRSYSPMRKRRRDSPSHLEARRITSARKRPIPYYRPSPS
  SSGSLSSTSSWYSSSSSRSASRSYSRSRSRSRSRRRSRTRTSSSSSSRSPSPGSRSRSRSRSRSRSRSRSQSRSY
  SSADSYSSTRR

• Structural information:
  • Interpro: IPR029360  
  • STRING: ENSP00000267260
• Other Databases: GeneCards:  SRRM4  Malacards:  SRRM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042551	neuron maturation	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0006397	mRNA processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0030154	cell differentiation	ISS	biological process
GO:0003729	mRNA binding	ISS	molecular function
GO:0043484	regulation of RNA splicing	ISS	biological process
GO:0007399	nervous system development	ISS	biological process
GO:0006397	mRNA processing	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	ISS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray