• Gene id: 22837

Gene Summary

• Gene Symbol: COBLL1   Gene   UCSC   Ensembl
• Aliases: COBLR1
• Gene name: cordon-bleu WH2 repeat protein like 1
• Alternate names: cordon-bleu protein-like 1, COBL-like 1,
• Gene location: 2q24.3 (164842075: 164657930)     Exons: 20     NC_000002.12
• OMIM: 610318

Protein Summary

• Protein general information: Q53SF7  
  • Name: Cordon bleu protein like 1
  • Length: 1128  
  • Mass: 123868
• Sequence:

  MDGRTPRPQDAPARRKPKAKAPLPPAETKYTDVSSAADSVESTAFIMEQKENMIDKDVELSVVLPGDIIKSTTVH
  GSKPMMDLLIFLCAQYHLNPSSYTIDLLSAEQNHIKFKPNTPIGMLEVEKVILKPKMLDKKKPTPIIPEKTVRVV
  INFKKTQKTIVRVSPHASLQELAPIICSKCEFDPLHTLLLKDYQSQEPLDLTKSLNDLGLRELYAMDVNRESCQI
  SQNLDIMKEKENKGFFSFFQRSKKKRDQTASAPATPLVNKHRPTFTRSNTISKPYISNTLPSDAPKKRRAPLPPM
  PASQSVPQDLAHIQERPASCIVKSMSVDETDKSPCEAGRVRAGSLQLSSMSAGNSSLRRTKRKAPSPPSKIPPHQ
  SDENSRVTALQPVDGVPPDSASEANSPEELSSPAGISSDYSLEEIDEKEELSEVPKVEAENISPKSQDIPFVSTD
  IINTLKNDPDSALGNGSGEFSQNSMEEKQETKSTDGQEPHSVVYDTSNGKKVVDSIRNLKSLGPNQENVVQNEII
  VYPENTEDNMKNGVKKTEINVEGVAKNNNIDMEVERPSNSEAHETDTAISYKENHLAASSVPDQKLNQPSAEKTK
  DAAIQTTPSCNSFDGKHQDHNLSDSKVEECVQTSNNNISTQHSCLSSQDSVNTSREFRSQGTLIIHSEDPLTVKD
  PICAHGNDDLLPPVDRIDKNSTASYLKNYPLYRQDYNPKPKPSNEITREYIPKIGMTTYKIVPPKSLEISKDWQS
  ETIEYKDDQDMHALGKKHTHENVKETAIQTEDSAISESPEEPLPNLKPKPNLRTEHQVPSSVSSPDDAMVSPLKP
  APKMTRDTGTAPFAPNLEEINNILESKFKSRASNAQAKPSSFFLQMQKRVSGHYVTSAAAKSVHAAPNPAPKELT
  NKEAERDMLPSPEQTLSPLSKMPHSVPQPLVEKTDDDVIGQAPAEASPPPIAPKPVTIPASQVSTQNLKTLKTFG
  APRPYSSSGPSPFALAVVKRSQSFSKERTESPSASALVQPPANTEEGKTHSVNKFVDIPQLGVSDKENNSAHNEQ
  NSQIPTPTDGPSFTVMRQSSLTFQSSDPEQMRQSLLTAIRSGEAAAKLKRVTIPSNTISVNGRSRLSHSMSPDAQ
  DGH

• Structural information:
  • Protein Domains: (1081..110-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR039895  IPR019025  IPR003124  
  • Prosite: PS51082
  • PDB: 2DAJ
  • PDBsum: 2DAJ
  • STRING: ENSP00000341360
• Other Databases: GeneCards:  COBLL1  Malacards:  COBLL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0003785	actin monomer binding	IEA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)