• Gene id: 81492

Gene Summary

• Gene Symbol: RSPH6A   Gene   UCSC   Ensembl
• Aliases: RSHL1, RSP4, RSP6, RSPH4B
• Gene name: radial spoke head 6 homolog A
• Alternate names: radial spoke head protein 6 homolog A, ortholog of mouse radial spokehead-like 1, radial spoke head-like protein 1, radial spokehead-like 1,
• Gene location: 19q13.32 (45815341: 45795712)     Exons: 16     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair
• OMIM: 607548

Protein Summary

• Protein general information: Q9H0K4  
  • Name: Radial spoke head protein 6 homolog A (Radial spoke head like protein 1)
  • Length: 717  
  • Mass: 80913
• Sequence:

  MGDLPPYPERPAQQPPGRRTSQASQRRHSRDQAQALAADPEERQQIPPDAQRNAPGWSQRGSLSQQENLLMPQVF
  QAEEARLGGMEYPSVNTGFPSEFQPQPYSDESRMQVAELTTSLMLQRLQQGQSSLFQQLDPTFQEPPVNPLGQFN
  LYQTDQFSEGAQHGPYIRDDPALQFLPSELGFPHYSAQVPEPEPLELAVQNAKAYLLQTSINCDLSLYEHLVNLL
  TKILNQRPEDPLSVLESLNRTTQWEWFHPKLDTLRDDPEMQPTYKMAEKQKALFTRSGGGTEGEQEMEEEVGETP
  VPNIMETAFYFEQAGVGLSSDESFRIFLAMKQLVEQQPIHTCRFWGKILGIKRSYLVAEVEFREGEEEAEEEEVE
  EMTEGGEVMEAHGEEEGEEDEEKAVDIVPKSVWKPPPVIPKEESRSGANKYLYFVCNEPGLPWTRLPHVTPAQIV
  NARKIKKFFTGYLDTPVVSYPPFPGNEANYLRAQIARISAATQVSPLGFYQFSEEEGDEEEEGGAGRDSYEENPD
  FEGIPVLELVDSMANWVHHTQHILPQGRCTWVNPLQKTEEEEDLGEEEEKADEGPEEVEQEVGPPLLTPLSEDAE
  IMHLAPWTTRLSCSLCPQYSVAVVRSNLWPGAYAYASGKKFENIYIGWGHKYSPESFNPALPAPIQQEYPSGPEI
  MEMSDPTVEEEQALKAAQEQALGATEEEEEGEEEEEGEETDD

• Structural information:
  • Interpro: IPR006802  
  • STRING: ENSP00000221538
• Other Databases: GeneCards:  RSPH6A  Malacards:  RSPH6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003341	cilium movement	IBA	biological process
GO:0035082	axoneme assembly	IBA	biological process
GO:0005930	axoneme	IBA	cellular component
GO:1905199	manchette disassembly	ISS	biological process
GO:0036126	sperm flagellum	ISS	cellular component
GO:0044458	motile cilium assembly	ISS	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0001534	radial spoke	IEA	cellular component
GO:0060294	cilium movement involved in cell motility	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005930	axoneme	IEA	cellular component
GO:1905199	manchette disassembly	IEA	biological process
GO:0036126	sperm flagellum	IEA	cellular component
GO:0044458	motile cilium assembly	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746

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)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R