• Gene id: 282809

Gene Summary

• Gene Symbol: POC1B   Gene   UCSC   Ensembl
• Aliases: CORD20, PIX1, TUWD12, WDR51B
• Gene name: POC1 centriolar protein B
• Alternate names: POC1 centriolar protein homolog B, WD repeat-containing protein 51B, proteome of centriole protein 1B,
• Gene location: 12q21.33 (89526046: 89419717)     Exons: 13     NC_000012.12
• Gene summary(Entrez): POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in thi
• OMIM: 614784

Protein Summary

• Protein general information: Q8TC44  
  • Name: POC1 centriolar protein homolog B (Pix1) (Proteome of centriole protein 1B) (WD repeat containing protein 51B)
  • Length: 478  
  • Mass: 53668
  • Tissue specificity: Expressed in the retina. {ECO
• Sequence:

  MASATEDPVLERYFKGHKAAITSLDLSPNGKQLATASWDTFLMLWNFKPHARAYRYVGHKDVVTSVQFSPHGNLL
  ASASRDRTVRLWIPDKRGKFSEFKAHTAPVRSVDFSADGQFLATASEDKSIKVWSMYRQRFLYSLYRHTHWVRCA
  KFSPDGRLIVSCSEDKTIKIWDTTNKQCVNNFSDSVGFANFVDFNPSGTCIASAGSDQTVKVWDVRVNKLLQHYQ
  VHSGGVNCISFHPSGNYLITASSDGTLKILDLLEGRLIYTLQGHTGPVFTVSFSKGGELFASGGADTQVLLWRTN
  FDELHCKGLTKRNLKRLHFDSPPHLLDIYPRTPHPHEEKVETVEINPKLEVIDLQISTPPVMDILSFDSTTTTET
  SGRTLPDKGEEACGYFLNPSLMSPECLPTTTKKKTEDMSDLPCESQRSIPLAVTDALEHIMEQLNVLTQTVSILE
  QRLTLTEDKLKDCLENQQKLFSAVQQKS

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000323302
• Other Databases: GeneCards:  POC1B  Malacards:  POC1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0001895	retina homeostasis	IMP	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000922	spindle pole	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
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)