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FLASH GENE

Symbol

IQCB1

contributors: mct/npt/pgu - updated : 03-04-2024

HGNC name	IQ motif containing B1
HGNC id	28949

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NPHP5 nephronophtisis 5
Location	3q13.33      Physical location : 121.488.609 - 121.553.926
Synonym name	nephrocystin-5
	p53 and DNA damage-regulated IQ motif protein
	IQ calmodulin-binding motif containing 1
	nephrocystin-5
Synonym symbol(s)	KIAA0036, PIQ, NPHP5, SLSN5

DNA

TYPE	functioning gene
STRUCTURE	65.32 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D3S3709 - D3S2916E - IQCB1 - D3S3720 - D3S2793E - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001023570 15 - 2594 NP_001018864 68 598 - 2005 16322217 variant 2 - splicing 2283 isoform 2 35 303 - 2005 16322217 NM_001023571 12 splicing 2195 NP_001018865 - 465 - 2005 16322217

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye uvea ciliary body

cells

System Cell Pubmed Species Stage Rna symbol Urinary tubular cell Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two calmodulin-binding IQ domains that flank a central coiled-coil region

HOMOLOGY

interspecies

ortholog to murine Iqcb1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	localized to the connecting cilia and outer segments of photoreceptors and to primary cilia of renal epithelial cells

basic FUNCTION	playing central role in ciliary function
	represses the expression of TP53 up-regulated modulator of apoptosis that is a key mediator of TP53-induced apoptosis
	may function to bridge a crosstalk between TP53 and calmodulin-regulated cellular processes
	may be involved in tumorigenesis and could serve as a valuable diagnostic/prognostic marker for gastrointestinal tumors
	participate in overlapping signaling pathways to maintain photoreceptor homeostasis
	Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos
	B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, Peripherin (PHPN)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with RPGR (both are present in a multiprotein complex in the retina)and with calmodulin
	down regulated by TP53 and DNA damage inducing agents
	binds calmodulin and is found in a complex with the retinitis pigmentosa GTPase regulator (RPGR)
	IQCB1-Ataxin10 interaction
	B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH
	NUP62 and the C termini of NPHP4 and IQCB1 interact with KIF17 and thus spatially map to the inner region of the ciliary gating zone
	B9D1, AHI1, and the N termini of NPHP4 and IQCB1 interact with the transmembrane protein SSTR3 and thus spatially map to the outer region of the ciliary gating zone

cell & other

REGULATION

inhibited by

by TP53 and DNA damage-inducing agents

ASSOCIATED DISORDERS

corresponding disease(s)

NPHP5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in a number of primary colorectal and gastric tumors when compared with matching normal tissues

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS