• Gene id: 148753

Gene Summary

• Gene Symbol: FAM163A   Gene   UCSC   Ensembl
• Aliases: C1orf76, NDSP
• Gene name: family with sequence similarity 163 member A
• Alternate names: protein FAM163A, cebelin, neuroblastoma derived secretory protein,
• Gene location: 1q25.2 (179727762: 179816197)     Exons: 5     NC_000001.11
• OMIM: 611727

Protein Summary

• Protein general information: Q96GL9  
  • Name: Protein FAM163A (Cebelin) (Neuroblastoma derived secretory protein)
  • Length: 167  
  • Mass: 17641
  • Tissue specificity: Highly expressed in neuroblastoma compared to other tissues, suggesting that it may be used as a marker for metastasis in bone marrow. {ECO
• Sequence:

  MTAGTVVITGGILATVILLCIIAVLCYCRLQYYCCKKSGTEVADEEEEREHDLPTHPRGPTCNACSSQALDGRGS
  LAPLTSEPCSQPCGVAASHCTTCSPYSSPFYIRTADMVPNGGGGERLSFAPTYYKEGGPPSLKLAAPQSYPVTWP
  GSGREAFTNPRAISTDV

• Structural information:
  • Interpro: IPR029379  IPR040281  
  • STRING: ENSP00000354891
• Other Databases: GeneCards:  FAM163A  Malacards:  FAM163A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	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:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray