• Gene id: 54908

Gene Summary

• Gene Symbol: SPDL1   Gene   UCSC   Ensembl
• Aliases: CCDC99
• Gene name: spindle apparatus coiled-coil protein 1
• Alternate names: protein Spindly, arsenite-related gene 1 protein, coiled-coil domain-containing protein 99, rhabdomyosarcoma antigen MU-RMS-40.4A, rrhabdomyosarcoma antigen protein MU-RMS-40.4A,
• Gene location: 5q35.1 (169583660: 169604777)     Exons: 15     NC_000005.10
• Gene summary(Entrez): This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in m
• OMIM: 616401

Protein Summary

• Protein general information: Q96EA4  
  • Name: Protein Spindly (hSpindly) (Arsenite related gene 1 protein) (Coiled coil domain containing protein 99) (Rhabdomyosarcoma antigen MU RMS 40.4A) (Spindle apparatus coiled coil domain containing protein 1)
  • Length: 605  
  • Mass: 70172
• Sequence:

  MEADIITNLRCRLKEAEEERLKAAQYGLQLVESQNELQNQLDKCRNEMMTMTESYEQEKYTLQREVELKSRMLES
  LSCECEAIKQQQKMHLEKLEEQLSRSHGQEVNELKTKIEKLKVELDEARLSEKQLKHQVDHQKELLSCKSEELRV
  MSERVQESMSSEMLALQIELTEMESMKTTLKEEVNELQYRQEQLELLITNLMRQVDRLKEEKEEREKEAVSYYNA
  LEKARVANQDLQVQLDQALQQALDPNSKGNSLFAEVEDRRAAMERQLISMKVKYQSLKKQNVFNREQMQRMKLQI
  ATLLQMKGSQTEFEQQERLLAMLEQKNGEIKHLLGEIRNLEKFKNLYDSMESKPSVDSGTLEDNTYYTDLLQMKL
  DNLNKEIESTKGELSIQRMKALFESQRALDIERKLFANERCLQLSESENMKLRAKLDELKLKYEPEETVEVPVLK
  KRREVLPVDITTAKDACVNNSALGGEVYRLPPQKEETQSCPNSLEDNNLQLEKSVSIYTPVVSLSPHKNLPVDMQ
  LKKEKKCVKLIGVPADAEALSERSGNTPNSPRLAAESKLQTEVKEGKETSSKLEKETCKKLHPILYVSSKSTPET
  QCPQQ

• Structural information:
  • Interpro: IPR028593  
  • DIP: 47296
  • STRING: ENSP00000265295
• Other Databases: GeneCards:  SPDL1  Malacards:  SPDL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043515	kinetochore binding	IBA	molecular function
GO:0034501	protein localization to kinetochore	IBA	biological process
GO:0007080	mitotic metaphase plate congression	IBA	biological process
GO:0000940	condensed chromosome outer kinetochore	IBA	cellular component
GO:0000132	establishment of mitotic spindle orientation	IBA	biological process
GO:0000922	spindle pole	IBA	cellular component
GO:0043515	kinetochore binding	IDA	molecular function
GO:0000940	condensed chromosome outer kinetochore	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0034501	protein localization to kinetochore	IMP	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0000132	establishment of mitotic spindle orientation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034501	protein localization to kinetochore	IEA	biological process
GO:0007094	mitotic spindle assembly checkpoint	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	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:0005829	cytosol	TAS	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:0005829	cytosol	TAS	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: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:0005815	microtubule organizing center	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0034501	protein localization to kinetochore	IEA	biological process
GO:0043515	kinetochore binding	IEA	molecular function
GO:0000940	condensed chromosome outer kinetochore	IEA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

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)