• Gene id: 51571

Gene Summary

• Gene Symbol: FAM49B   Gene   UCSC   Ensembl
• Aliases: BM-009, L1
• Gene name: family with sequence similarity 49 member B
• Alternate names: protein FAM49B, FAM49B/JPH1 fusion, MTSS1/FAM49B fusion,
• Gene location: 8q24.21 (130017128: 129839592)     Exons: 22     NC_000008.11
• OMIM: 0

Protein Summary

• Protein general information: Q9NUQ9  
  • Name: Protein FAM49B (L1)
  • Length: 324  
  • Mass: 36,748
• Sequence:

  MGNLLKVLTCTDLEQGPNFFLDFENAQPTESEKEIYNQVNVVLKDAEGILEDLQSYRGAGHEIREAIQHPADEKL
  QEKAWGAVVPLVGKLKKFYEFSQRLEAALRGLLGALTSTPYSPTQHLEREQALAKQFAEILHFTLRFDELKMTNP
  AIQNDFSYYRRTLSRMRINNVPAEGENEVNNELANRMSLFYAEATPMLKTLSDATTKFVSENKNLPIENTTDCLS
  TMASVCRVMLETPEYRSRFTNEETVSFCLRVMVGVIILYDHVHPVGAFAKTSKIDMKGCIKVLKDQPPNSVEGLL
  NALRYTTKHLNDETTSKQIKSMLQ

• Structural information:
  • Interpro: IPR009828  
  • STRING: ENSP00000384880
• Other Databases: GeneCards:  FAM49B  Malacards:  FAM49B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 25791297
Cryptorchidism	MIK: 25791297
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 25791297
Male infertility	MIK: 25791297
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25791297	Cryptorchidism, Male infertility				Male infertility	GTSF1 L1 and PIWIL4
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881