• Gene id: 51517

Gene Summary

• Gene Symbol: NCKIPSD   Gene   UCSC   Ensembl
• Aliases: AF3P21, DIP, DIP1, ORF1, SPIN90, VIP54, WASLBP, WISH
• Gene name: NCK interacting protein with SH3 domain
• Alternate names: NCK-interacting protein with SH3 domain, 54 kDa VacA-interacting protein, 54 kDa vimentin-interacting protein, 90 kDa SH3 protein interacting with Nck, SH3 adapter protein SPIN90, SH3 protein interacting with Nck, 90 kDa, WASP-interacting SH3-domain protein, dia,
• Gene location: 3p21.31 (48685940: 48663813)     Exons: 15     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress
• OMIM: 612346

Protein Summary

• Protein general information: Q9NZQ3  
  • Name: NCK interacting protein with SH3 domain (54 kDa VacA interacting protein) (54 kDa vimentin interacting protein) (VIP54) (90 kDa SH3 protein interacting with Nck) (AF3p21) (Dia interacting protein 1) (DIP 1) (Diaphanous protein interacting protein) (SH3 ad
  • Length: 722  
  • Mass: 78960
  • Tissue specificity: Highest expression in heart, brain, skeletal muscle, kidney and liver. Lower levels in placenta, lung, small intestine and leukocytes. Weak expression in colon, thymus and spleen. {ECO
• Sequence:

  MYRALYAFRSAEPNALAFAAGETFLVLERSSAHWWLAARARSGETGYVPPAYLRRLQGLEQDVLQAIDRAIEAVH
  NTAMRDGGKYSLEQRGVLQKLIHHRKETLSRRGPSASSVAVMTSSTSDHHLDAAAARQPNGVCRAGFERQHSLPS
  SEHLGADGGLYQIPLPSSQIPPQPRRAAPTTPPPPVKRRDREALMASGSGGHNTMPSGGNSVSSGSSVSSTSLDT
  LYTSSSPSEPGSSCSPTPPPVPRRGTHTTVSQVQPPPSKASAPEPPAEEEVATGTTSASDDLEALGTLSLGTTEE
  KAAAEAAVPRTIGAELMELVRRNTGLSHELCRVAIGIIVGHIQASVPASSPVMEQVLLSLVEGKDLSMALPSGQV
  CHDQQRLEVIFADLARRKDDAQQRSWALYEDEGVIRCYLEELLHILTDADPEVCKKMCKRNEFESVLALVAYYQM
  EHRASLRLLLLKCFGAMCSLDAAIISTLVSSVLPVELARDMQTDTQDHQKLCYSALILAMVFSMGEAVPYAHYEH
  LGTPFAQFLLNIVEDGLPLDTTEQLPDLCVNLLLALNLHLPAADQNVIMAALSKHANVKIFSEKLLLLLNRGDDP
  VRIFKHEPQPPHSVLKFLQDVFGSPATAAIFYHTDMMALIDITVRHIADLSPGDKLRMEYLSLMHAIVRTTPYLQ
  HRHRLPDLQAILRRILNEEETSPQCQMDRMIVREMCKEFLVLGEAPS

• Structural information:
  • Protein Domains: (1..5-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR018556  IPR036028  IPR001452  IPR035514  
  • Prosite: PS50002
  • CDD: cd11849
  • PDB: 6DEC 6DED 6DEE
  • PDBsum: 6DEC 6DED 6DEE
  • STRING: ENSP00000294129
• Other Databases: GeneCards:  NCKIPSD  Malacards:  NCKIPSD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008180	COP9 signalosome	IDA	colocalizes with
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	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:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0005882	intermediate filament	NAS	cellular component
GO:0008092	cytoskeletal protein binding	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq