• Gene id: 54845

Gene Summary

• Gene Symbol: ESRP1   Gene   UCSC   Ensembl
• Aliases: DFNB109, RBM35A, RMB35A
• Gene name: epithelial splicing regulatory protein 1
• Alternate names: epithelial splicing regulatory protein 1, RNA-binding motif protein 35A, RNA-binding protein 35A,
• Gene location: 8q22.1 (94640998: 94707465)     Exons: 16     NC_000008.11
• Gene summary(Entrez): ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
• OMIM: 612959

Protein Summary

• Protein general information: Q6NXG1  
  • Name: Epithelial splicing regulatory protein 1 (RNA binding motif protein 35A) (RNA binding protein 35A)
  • Length: 681  
  • Mass: 75585
  • Tissue specificity: Epithelial cell-specific. {ECO
• Sequence:

  MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESL
  SSASQLDQALRQFNQSVSNELNIGVGTSFCLCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGS
  PDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKMELIDDNT
  VVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKA
  TGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFV
  LFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAPLIPLPTPPIIPVLPQQFVPPTNVRDCIRLR
  GLPYAATIEDILDFLGEFATDIRTHGVHMVLNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSA
  EEMNFVLMGGTLNRNGLSPPPCKLPCLSPPSYTFPAPAAVIPTEAAIYQPSVILNPRALQPSTAYYPAGTQLFMN
  YTAYYPSPPGSPNSLGYFPTAANLSGVPPQPGTVVRMQGLAYNTGVKEILNFFQGYQYATEDGLIHTNDQARTLP
  KEWVCI

• Structural information:
  • Protein Domains: (225..30-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (326..40-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (445..52-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034427  IPR012677  IPR035979  IPR012337  IPR036397   IPR000504  
  • Prosite: PS50102
  • CDD: cd12736
  • PDB: 2DHA 2RVJ
  • PDBsum: 2DHA 2RVJ
  • STRING: ENSP00000405738
• Other Databases: GeneCards:  ESRP1  Malacards:  ESRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0042669	regulation of inner ear auditory receptor cell fate specification	ISS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003729	mRNA binding	IDA	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray