Iqcb1 IQ calmodulin-binding motif containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Iqcb1provided by MGI
Official Full Name: IQ calmodulin-binding motif containing 1provided by MGI
Primary source: MGI:MGI:2443764
See related: Ensembl:ENSMUSG00000022837 AllianceGenome:MGI:2443764
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NPHP5; 6820449I09Rik
Summary: Predicted to enable several functions, including BBSome binding activity; calmodulin binding activity; and enzyme binding activity. Involved in cilium assembly. Located in photoreceptor connecting cilium and photoreceptor outer segment. Is expressed in several structures, including heart ventricle; metanephros; retina; and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Senior-Loken syndrome; nephronophthisis; and retinitis pigmentosa 3. Orthologous to human IQCB1 (IQ motif containing B1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E11.5 (RPKM 2.8), CNS E14 (RPKM 2.2) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B3; 16 26.11 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (36648722..36694044)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (36828360..36872719)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In the Nphp5-/- and cone-only Nphp5-/-; Nrl-/- mice, cone outer segments did not form, but mutant cones continued to express cone pigments in the inner segments without obvious signs of cone cell death.
Title: Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.
Nphp5(-/-) photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in Nphp5(-/-);Nrl(-/-) (cone only) retina
Title: Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Title: Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH130971 (e-PCR)
- UniSTS:214254

AV128382 (e-PCR)
- UniSTS:164604

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BBSome binding	IEA Inferred from Electronic Annotation more info
enables BBSome binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cytosolic ciliogenesis	IEA Inferred from Electronic Annotation more info
involved_in cytosolic ciliogenesis	ISO Inferred from Sequence Orthology more info
involved_in maintenance of animal organ identity	ISO Inferred from Sequence Orthology more info
involved_in maintenance of animal organ identity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: IQ calmodulin-binding motif-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_177128.4 → NP_796102.2 IQ calmodulin-binding motif-containing protein 1

See identical proteins and their annotated locations for NP_796102.2

Status: VALIDATED

Source sequence(s)

AK165220, BE652573, BY127963

Consensus CDS

CCDS28157.1

UniProtKB/Swiss-Prot

Q3TNK4, Q8BP00, Q8K306

Related

ENSMUSP00000023535.4, ENSMUST00000023535.4

Conserved Domains (2) summary

COG5022
Location:293 → 408

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 430

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

36648722..36694044

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159985.1 → XP_036015878.1 IQ calmodulin-binding motif-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q3TNK4, Q8BP00, Q8K306

Conserved Domains (2) summary

COG5022
Location:293 → 408

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 430

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_006522249.4 → XP_006522312.1 IQ calmodulin-binding motif-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006522312.1

UniProtKB/Swiss-Prot

Q3TNK4, Q8BP00, Q8K306

Conserved Domains (2) summary

COG5022
Location:293 → 408

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 430

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_006522247.4 → XP_006522310.1 IQ calmodulin-binding motif-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006522310.1

UniProtKB/Swiss-Prot

Q3TNK4, Q8BP00, Q8K306

Conserved Domains (2) summary

COG5022
Location:293 → 408

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 430

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_036159986.1 → XP_036015879.1 IQ calmodulin-binding motif-containing protein 1 isoform X3

Conserved Domains (2) summary

COG5022
Location:293 → 437

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 425

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_030249154.1 → XP_030105014.1 IQ calmodulin-binding motif-containing protein 1 isoform X3

Conserved Domains (2) summary

COG5022
Location:293 → 437

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 425

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_036159987.1 → XP_036015880.1 IQ calmodulin-binding motif-containing protein 1 isoform X4

Conserved Domains (1) summary

cd22307
Location:252 → 292

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_030249153.2 → XP_030105013.1 IQ calmodulin-binding motif-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q3TNK4, Q8BP00, Q8K306

Conserved Domains (2) summary

COG5022
Location:293 → 408

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 430

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_006522248.3 → XP_006522311.1 IQ calmodulin-binding motif-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006522311.1

UniProtKB/Swiss-Prot

Q3TNK4, Q8BP00, Q8K306

Conserved Domains (2) summary

COG5022
Location:293 → 408

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 430

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_006522250.5 → XP_006522313.1 IQ calmodulin-binding motif-containing protein 1 isoform X3

See identical proteins and their annotated locations for XP_006522313.1

Conserved Domains (2) summary

COG5022
Location:293 → 437

COG5022; Myosin heavy chain [General function prediction only]

cd22307
Location:385 → 425

Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
XM_017317037.2 → XP_017172526.1 IQ calmodulin-binding motif-containing protein 1 isoform X2

Conserved Domains (1) summary

smart00015
Location:254 → 275

IQ; Calmodulin-binding motif