• Gene id: 9657

Gene Summary

• Gene Symbol: IQCB1   Gene   UCSC   Ensembl
• Aliases: NPHP5, PIQ, SLSN5
• Gene name: IQ motif containing B1
• Alternate names: IQ calmodulin-binding motif-containing protein 1, nephrocystin 5, p53 and DNA damage-regulated IQ motif protein,
• Gene location: 3q21.1 (121835078: 121769760)     Exons: 16     NC_000003.12
• Gene summary(Entrez): This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia
• OMIM: 186357

Protein Summary

• Protein general information: Q15051  
  • Name: IQ calmodulin binding motif containing protein 1 (Nephrocystin 5) (p53 and DNA damage regulated IQ motif protein) (PIQ)
  • Length: 598  
  • Mass: 68929
  • Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors. {ECO
• Sequence:

  MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQG
  GWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLF
  WLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPV
  IRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACL
  IQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVH
  PGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQEL
  TDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAP
  SLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP

• Structural information:
  • Protein Domains: (294..31-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (318..33-)
    (/note="IQ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (387..41-)
    (/note="IQ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (-)
  • Interpro: IPR016024  IPR000048  IPR028765  IPR027417  
  • Prosite: PS50096
  • STRING: ENSP00000311505
• Other Databases: GeneCards:  IQCB1  Malacards:  IQCB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005516	calmodulin binding	IDA	molecular function
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0048496	maintenance of animal organ identity	IMP	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Senior-Loken syndrome	KEGG:H00538
Nephronophthisis	KEGG:H00537
Senior-Loken syndrome	KEGG:H00538
Senior-Loken syndrome	PMID:15723066
Retinitis pigmentosa 3	PMID:21857984
nephronophthisis	PMID:18076122
Leber congenital amaurosis	PMID:21220633
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq