• Gene id: 53841

Gene Summary

• Gene Symbol: CDHR5   Gene   UCSC   Ensembl
• Aliases: MLPCDH, MU-PCDH, MUCDHL, MUPCDH
• Gene name: cadherin related family member 5
• Alternate names: cadherin-related family member 5, differentiation-associated catenin regulator, mu-protocadherin, mucin and cadherin-like protein,
• Gene location: 11p15.5 (624966: 616564)     Exons: 16     NC_000011.10
• Gene summary(Entrez): This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motif
• OMIM: 610669

Protein Summary

• Protein general information: Q9HBB8  
  • Name: Cadherin related family member 5 (Mu protocadherin) (Mucin and cadherin like protein) (Mucin like protocadherin) (MLPCDH)
  • Length: 845  
  • Mass: 88223
  • Tissue specificity: Highest expression in kidney, liver, colon and small intestine. In kidney, expressed apically along brush border of proximal convoluted tubule but not in cortical collecting ducts. Isoform 1 is expressed primarily in adult small intest
• Sequence:

  MGSWALLWPPLLFTGLLVRPPGTMAQAQYCSVNKDIFEVEENTNVTEPLVDIHVPEGQEVTLGALSTPFAFRIQG
  NQLFLNVTPDYEEKSLLEAQLLCQSGGTLVTQLRVFVSVLDVNDNAPEFPFKTKEIRVEEDTKVNSTVIPETQLQ
  AEDRDKDDILFYTLQEMTAGASDYFSLVSVNRPALRLDRPLDFYERPNMTFWLLVRDTPGENVEPSHTATATLVL
  NVVPADLRPPWFLPCTFSDGYVCIQAQYHGAVPTGHILPSPLVLRPGPIYAEDGDRGINQPIIYSIFRGNVNGTF
  IIHPDSGNLTVARSVPSPMTFLLLVKGQQADLARYSVTQVTVEAVAAAGSPPRFPQRLYRGTVARGAGAGVVVKD
  AAAPSQPLRIQAQDPEFSDLNSAITYRITNHSHFRMEGEVVLTTTTLAQAGAFYAEVEAHNTVTSGTATTVIEIQ
  VSEQEPPSTDVPPSPEAGGTTGPWTSTTSEVPRPPEPSQGPSTTSSGGGTGPHPPSGTTLRPPTSSTPGGPPGAE
  NSTSHQPATPGGDTAQTPKPGTSQPMPPGVGTSTSHQPATPSGGTAQTPEPGTSQPMPPSMGTSTSHQPATPGGG
  TAQTPEAGTSQPMPPGMGTSTSHQPTTPGGGTAQTPEPGTSQPMPLSKSTPSSGGGPSEDKRFSVVDMAALGGVL
  GALLLLALLGLAVLVHKHYGPRLKCCCGKAPEPQPQGFDNQAFLPDHKANWAPVPSPTHDPKPAEAPMPAEPAPP
  GPASPGGAPEPPAAARAGGSPTAVRSILTKERRPEGGYKAVWFGEDIGTEADVVVLNAPTLDVDGASDSGSGDEG
  EGAGRGGGPYDAPGGDDSYI

• Structural information:
  • Protein Domains: (71..12-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043,-ECO:0000305)
    (125..23-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043,-ECO:0000305)
    (249..35-)
    (/note="Cadherin-3)
    (/evidence="EC-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR030326  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000351118
• Other Databases: GeneCards:  CDHR5  Malacards:  CDHR5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0031528	microvillus membrane	IDA	cellular component
GO:0044214	spanning component of plasma membrane	IDA	cellular component
GO:0050839	cell adhesion molecule binding	IDA	molecular function
GO:0031526	brush border membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0090675	intermicrovillar adhesion	IMP	biological process
GO:0032532	regulation of microvillus length	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0031528	microvillus membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005509	calcium ion binding	ISS	molecular function
GO:0007155	cell adhesion	ISS	biological process

Diseases

Associated diseases	References
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