• Gene id: 4739

Gene Summary

• Gene Symbol: NEDD9   Gene   UCSC   Ensembl
• Aliases: CAS-L, CAS2, CASL, CASS2, HEF1
• Gene name: neural precursor cell expressed, developmentally down-regulated 9
• Alternate names: enhancer of filamentation 1, Cas scaffolding protein family member 2, Crk-associated substrate related protein Cas-L, Enhancer of filamentation 1 p55, cas-like docking, neural precursor cell expressed developmentally down-regulated protein 9, p130Cas-related pr,
• Gene location: 6p24.2 (11382347: 11183297)     Exons: 1     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protei
• OMIM: 602265

Protein Summary

• Protein general information: Q14511  
  • Name: Enhancer of filamentation 1 (hEF1) (CRK associated substrate related protein) (CAS L) (CasL) (Cas scaffolding protein family member 2) (Neural precursor cell expressed developmentally down regulated protein 9) (NEDD 9) (Renal carcinoma antigen NY REN 12)
  • Length: 834  
  • Mass: 92861
  • Tissue specificity: Widely expressed. Higher levels detected in kidney, lung, and placenta. Also detected in T-cells, B-cells and diverse cell lines. The protein has been detected in lymphocytes, in diverse cell lines, and in lung tissues.
• Sequence:

  MKYKNLMARALYDNVPECAEELAFRKGDILTVIEQNTGGLEGWWLCSLHGRQGIVPGNRVKLLIGPMQETASSHE
  QPASGLMQQTFGQQKLYQVPNPQAAPRDTIYQVPPSYQNQGIYQVPTGHGTQEQEVYQVPPSVQRSIGGTSGPHV
  GKKVITPVRTGHGYVYEYPSRYQKDVYDIPPSHTTQGVYDIPPSSAKGPVFSVPVGEIKPQGVYDIPPTKGVYAI
  PPSACRDEAGLREKDYDFPPPMRQAGRPDLRPEGVYDIPPTCTKPAGKDLHVKYNCDIPGAAEPVARRHQSLSPN
  HPPPQLGQSVGSQNDAYDVPRGVQFLEPPAETSEKANPQERDGVYDVPLHNPPDAKGSRDLVDGINRLSFSSTGS
  TRSNMSTSSTSSKESSLSASPAQDKRLFLDPDTAIERLQRLQQALEMGVSSLMALVTTDWRCYGYMERHINEIRT
  AVDKVELFLKEYLHFVKGAVANAACLPELILHNKMKRELQRVEDSHQILSQTSHDLNECSWSLNILAINKPQNKC
  DDLDRFVMVAKTVPDDAKQLTTTINTNAEALFRPGPGSLHLKNGPESIMNSTEYPHGGSQGQLLHPGDHKAQAHN
  KALPPGLSKEQAPDCSSSDGSERSWMDDYDYVHLQGKEEFERQQKELLEKENIMKQNKMQLEHHQLSQFQLLEQE
  ITKPVENDISKWKPSQSLPTTNSGVSAQDRQLLCFYYDQCETHFISLLNAIDALFSCVSSAQPPRIFVAHSKFVI
  LSAHKLVFIGDTLTRQVTAQDIRNKVMNSSNQLCEQLKTIVMATKMAALHYPSTTALQEMVHQVTDLSRNAQLFK
  RSLLEMATF

• Structural information:
  • Protein Domains: (3..6-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR021901  IPR037362  IPR035746  IPR014928  IPR038319   IPR036028  IPR001452  
  • Prosite: PS50002
  • CDD: cd12002
  • PDB: 2L81 5X3S
  • PDBsum: 2L81 5X3S
  • STRING: ENSP00000368759
• Other Databases: GeneCards:  NEDD9  Malacards:  NEDD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090527	actin filament reorganization	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005819	spindle	TAS	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0007165	signal transduction	TAS	biological process
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:0090630	activation of GTPase activity	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0061098	positive regulation of protein tyrosine kinase activity	IDA	biological process
GO:0051017	actin filament bundle assembly	NAS	biological process
GO:0007229	integrin-mediated signaling pathway	NAS	biological process
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:1990782	protein tyrosine kinase binding	IPI	molecular function
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray