• Gene id: 81610

Gene Summary

• Gene Symbol: FAM83D   Gene   UCSC   Ensembl
• Aliases: C20orf129, CHICA, dJ616B8.3
• Gene name: family with sequence similarity 83 member D
• Alternate names: protein FAM83D, spindle protein CHICA,
• Gene location: 20q11.23 (93089210: 93035270)     Exons: 7     NC_000015.10
• OMIM: 618380

Protein Summary

• Protein general information: Q9H4H8  
  • Name: Protein FAM83D (Spindle protein CHICA)
  • Length: 585  
  • Mass: 64424
• Sequence:

  MALLSEGLDEVPAACLSPCGPPNPTELFSESRRLALEELVAGGPEAFAAFLRRERLARFLNPDEVHAILRAAERP
  GEEGAAAAAAAEDSFGSSHDCSSGTYFPEQSDLEPPLLELGWPAFYQGAYRGATRVETHFQPRGAGEGGPYGCKD
  ALRQQLRSAREVIAVVMDVFTDIDIFRDLQEICRKQGVAVYILLDQALLSQFLDMCMDLKVHPEQEKLMTVRTIT
  GNIYYARSGTKIIGKVHEKFTLIDGIRVATGSYSFTWTDGKLNSSNLVILSGQVVEHFDLEFRILYAQSKPISPK
  LLSHFQSSNKFDHLTNRKPQSKELTLGNLLRMRLARLSSTPRKADLDPEMPAEGKAERKPHDCESSTVSEEDYFS
  SHRDELQSRKAIDAATQTEPGEEMPGLSVSEVGTQTSITTACAGTQTAVITRIASSQTTIWSRSTTTQTDMDENI
  LFPRGTQSTEGSPVSKMSVSRSSSLKSSSSVSSQGSVASSTGSPASIRTTDFHNPGYPKYLGTPHLELYLSDSLR
  NLNKERQFHFAGIRSRLNHMLAMLSRRTLFTENHLGLHSGNFSRVNLLAVRDVALYPSYQ

• Structural information:
  • Interpro: IPR012461  
  • PDB: 5E0L 5E0M
  • PDBsum: 5E0L 5E0M
  • STRING: ENSP00000481110
• Other Databases: GeneCards:  FAM83D  Malacards:  FAM83D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902808	positive regulation of cell cycle G1/S phase transition	IBA	biological process
GO:1902480	protein localization to mitotic spindle	IBA	biological process
GO:0097431	mitotic spindle pole	IBA	cellular component
GO:0070372	regulation of ERK1 and ERK2 cascade	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0032006	regulation of TOR signaling	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0016477	cell migration	IDA	biological process
GO:0008017	microtubule binding	IDA	molecular function
GO:0097431	mitotic spindle pole	IDA	cellular component
GO:0097431	mitotic spindle pole	IDA	cellular component
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0008283	cell population proliferation	IDA	biological process
GO:0032006	regulation of TOR signaling	IDA	biological process
GO:0042176	regulation of protein catabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IC	cellular component
GO:0005737	cytoplasm	IC	cellular component
GO:0008283	cell population proliferation	IDA	biological process
GO:1902480	protein localization to mitotic spindle	IMP	biological process
GO:0070372	regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:1902808	positive regulation of cell cycle G1/S phase transition	IMP	biological process
GO:0070372	regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051310	metaphase plate congression	IMP	biological process
GO:0019894	kinesin binding	IPI	molecular function
GO:0051301	cell division	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000922	spindle pole	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component

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)