• Gene id: 23418

Gene Summary

• Gene Symbol: CRB1   Gene   UCSC   Ensembl
• Aliases: LCA8, RP12
• Gene name: crumbs cell polarity complex component 1
• Alternate names: protein crumbs homolog 1, crumbs 1, cell polarity complex component, crumbs family member 1, photoreceptor morphogenesis associated,
• Gene location: 1q31.3 (197201503: 197478454)     Exons: 17     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaf
• OMIM: 604210

Protein Summary

• Protein general information: P82279  
  • Name: Protein crumbs homolog 1
  • Length: 1406  
  • Mass: 154183
  • Tissue specificity: Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye. {ECO
• Sequence:

  MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNMKDPCF
  SNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQHGGICHQDPIYPVCICPAGYAGRFCEIDHD
  ECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLEVDECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELEI
  DECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCET
  LMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQSNGECVELSSEKQYGRITGLPSSFSY
  HEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYTCHCPFDNLSRTFYGGRDCSDILLGCTHQQC
  LNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIATTLSFEGDGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLF
  RSNRDVFVKLELLSGYIHLSIQVNNQSKVLLFISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLE
  SDQSICAFQNSFLGGLPVGMTSNGVALLNFYNMPSTPSFVGCLQDIKIDWNHITLENISSGSSLNVKAGCVRKDW
  CESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLREYVAGRFGQDDSTGYVIFTLDESYGDTISLSMFVRTLQPSG
  LLLALENSTYQYIRVWLERGRLAMLTPNSPKLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIE
  KGDVIYIGGLPDKQETELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGG
  VCHSRWDDFSCSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGNITRELTN
  ITFGFRTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYMLSLTSLQSVNDGTWHEVTLSMTDPLSQTSR
  WQMEVDNETPFVTSTIATGSLNFLKDNTDIYVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQF
  LKISTNSVVTGCLQLNVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGNCSDRVAAYHC
  TCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCGNEKTNLTCYNGGNCT
  EFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQCLCDVAFAGERCEVDLADDLISDIFTTIGS
  VTVALLLILLLAIVASVVTSNKRATQGTYSPSRQEKEGSRVEMWNLMPPPAMERLI

• Structural information:
  • Protein Domains: (30..6-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (70..10-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (110..14-)
    (/note="EGF-like-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR013320  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR009030  IPR001791  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS50025
  • PDB: 4UU5
  • PDBsum: 4UU5
  • STRING: ENSP00000356370
• Other Databases: GeneCards:  CRB1  Malacards:  CRB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032991	protein-containing complex	IBA	cellular component
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007163	establishment or maintenance of cell polarity	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005902	microvillus	IEA	cellular component
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0010842	retina layer formation	IEA	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0060060	post-embryonic retina morphogenesis in camera-type eye	IEA	biological process
GO:0061024	membrane organization	IEA	biological process
GO:0061159	establishment of bipolar cell polarity involved in cell morphogenesis	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007009	plasma membrane organization	IEA	biological process
GO:0010001	glial cell differentiation	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0034613	cellular protein localization	IEA	biological process
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0050908	detection of light stimulus involved in visual perception	IEA	biological process
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04390	Hippo signaling pathway

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Pigmented paravenous chorioretinal atrophy	KEGG:H01088
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Pigmented paravenous chorioretinal atrophy	KEGG:H01088
Cone-rod dystrophy	PMID:23767994
Pigmented paravenous chorioretinal atrophy	PMID:15623792
Retinitis pigmentosa	PMID:20956273
Leber congenital amaurosis	PMID:24715753
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq