• Gene id: 27077

Gene Summary

• Gene Symbol: B9D1   Gene   UCSC   Ensembl
• Aliases: B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1
• Gene name: B9 domain containing 1
• Alternate names: B9 domain-containing protein 1, B9 protein domain 1, MKS1-related protein 1, endothelial precursor protein B9,
• Gene location: 17p11.2 (77088684: 77217100)     Exons: 21     NC_000017.11
• Gene summary(Entrez): This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different ge
• OMIM: 614144

Protein Summary

• Protein general information: Q9UPM9  
  • Name: B9 domain containing protein 1 (MKS1 related protein 1)
  • Length: 204  
  • Mass: 22775
• Sequence:

  MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDVRQALVWNFPIDVTFK
  STNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIPMFVPESTSKLQKFTSWFMGRRPEYTDPKVV
  AQGEGREVTRVRSQGFVTLLFNVVTKDMRKLGYDTGPSDTQGVLGPSPPQSFPQ

• Structural information:
  • Protein Domains: (9..12-)
    (/note="C2-B9-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00713"-)
  • Interpro: IPR010796  
  • Prosite: PS51381
  • STRING: ENSP00000261499
• Other Databases: GeneCards:  B9D1  Malacards:  B9D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0036038	MKS complex	IBA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0035869	ciliary transition zone	ISS	cellular component
GO:0008158	hedgehog receptor activity	ISS	molecular function
GO:0036038	MKS complex	ISS	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0008158	hedgehog receptor activity	IEA	molecular function
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0043010	camera-type eye development	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0060563	neuroepithelial cell differentiation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0032880	regulation of protein localization	IEA	biological process
GO:0036038	MKS complex	IEA	cellular component
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0005813	centrosome	IDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray