• Gene id: 755

Gene Summary

• Gene Symbol: CFAP410   Gene   UCSC   Ensembl
• Aliases: C21orf2, LRRC76, RDMS, SMDAX, YF5/A2
• Gene name: cilia and flagella associated protein 410
• Alternate names: cilia- and flagella-associated protein 410, nuclear encoded mitochondrial protein C21orf2, C21orf-HUMF09G8.5, leucine rich repeat containing 76, leucine-rich repeat-containing protein 76, protein C21orf2,
• Gene location: 21q22.3 (44339416: 44328943)     Exons: 10     NC_000021.9
• Gene summary(Entrez): Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide,
• OMIM: 605964

Protein Summary

• Protein general information: O43822  
  • Name: Cilia and flagella associated protein 410 (C21orf HUMF09G8.5) (Leucine rich repeat containing protein 76) (YF5/A2)
  • Length: 256  
  • Mass: 28340
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIP
  SLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGT
  GHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLR
  ELDAEGLEAVQQTVGSRLQALRGEEVQEHAE

• Structural information:
  • Protein Domains: (97..13-)
    (/note="LRRCT"-)
  • Interpro: IPR037390  IPR001611  IPR032675  IPR003603  
  • Prosite: PS51450
  • STRING: ENSP00000381047
• Other Databases: GeneCards:  CFAP410  Malacards:  CFAP410

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0044782	cilium organization	IBA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0042769	DNA damage response, detection of DNA damage	IDA	biological process
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0044782	cilium organization	IBA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0042769	DNA damage response, detection of DNA damage	IDA	biological process
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Spondylometaphyseal dysplasia	KEGG:H02185
Spondylometaphyseal dysplasia	KEGG:H02185
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq