GediPNet logo

NEDD9 (neural precursor cell expressed, developmentally down-regulated 9)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4739
Gene nameGene Name - the full gene name approved by the HGNC.
Neural precursor cell expressed, developmentally down-regulated 9
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NEDD9
SynonymsGene synonyms aliases
CAS-L, CAS2, CASL, CASS2, HEF1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.2
SummarySummary of gene provided in NCBI Entrez Gene.
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 protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006817 hsa-miR-18a-5p qRT-PCR, Western blot 22308110
MIRT006889 hsa-miR-145-5p Immunofluorescence, Immunohistochemistry, qRT-PCR, Western blot 22869051
MIRT006889 hsa-miR-145-5p Luciferase reporter assay 23355420
MIRT006889 hsa-miR-145-5p Luciferase reporter assay, qRT-PCR 24384875
MIRT047916 hsa-miR-30c-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 11827972, 21516116, 25416956, 28514442
GO:0005634 Component Nucleus TAS 8668148
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q14511
Protein 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) (p105) [Cleaved into: Enhancer of filamentation 1 p55]
Protein function Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphorylated form. Required for correct adhesion and migration of T-cells (PubMed:17174122).
PDB 2L81 , 5X3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9
10 61
Variant SH3 domain
Domain
PF08824 Serine_rich
404 560
Serine rich protein interaction domain
Domain
PF12026 CAS_C
619 828
Crk-Associated Substrate C-terminal domain
Domain
Sequence
MKYKNLMARALYDNVPECAEELAFRKGDILTVIEQNTGGLEGWWLCSLHGRQGIVPGNRV
K
LLIGPMQETASSHEQPASGLMQQTFGQQKLYQVPNPQAAPRDTIYQVPPSYQNQGIYQV
PTGHGTQEQEVYQVPPSVQRSIGGTSGPHVGKKVITPVRTGHGYVYEYPSRYQKDVYDIP
PSHTTQGVYDIPPSSAKGPVFSVPVGEIKPQGVYDIPPTKGVYAIPPSACRDEAGLREKD
YDFPPPMRQAGRPDLRPEGVYDIPPTCTKPAGKDLHVKYNCDIPGAAEPVARRHQSLSPN
HPPPQLGQSVGSQNDAYDVPRGVQFLEPPAETSEKANPQERDGVYDVPLHNPPDAKGSRD
LVDGINRLSFSSTGSTRSNMSTSSTSSKESSLSASPAQDKRLFLDPDTAIERLQRLQQAL
EMGVSSLMALVTTDWRCYGYMERHINEIRTAVDKVELFLKEYLHFVKGAVANAACLPELI
LHNKMKRELQRVEDSHQILSQTSHDLNECSWSLNILAINKPQNKCDDLDRFVMVAKTVPD
DAKQLTTTINTNAEALFRPG
PGSLHLKNGPESIMNSTEYPHGGSQGQLLHPGDHKAQAHN
KALPPGLSKEQAPDCSSSDGSERSWMDDYDYVHLQGKEEFERQQKELLEKENIMKQNKMQ
LEHHQLSQFQLLEQEITKPVENDISKWKPSQSLPTTNSGVSAQDRQLLCFYYDQCETHFI
SLLNAIDALFSCVSSAQPPRIFVAHSKFVILSAHKLVFIGDTLTRQVTAQDIRNKVMNSS
NQLCEQLKTIVMATKMAALHYPSTTALQEMVHQVTDLSRNAQLFKRSL
LEMATF
Sequence length 834
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Prostate cancer Prostate carcinoma rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29892016, 25217961
Glaucoma Glaucoma, Open-Angle rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 22605921

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412