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IQCB1 IQ motif containing B1 [ Homo sapiens (human) ]

Gene ID: 9657, updated on 8-Jul-2018
Official Symbol
IQCB1provided by HGNC
Official Full Name
IQ motif containing B1provided by HGNC
Primary source
HGNC:HGNC:28949
See related
Ensembl:ENSG00000173226 MIM:609237; Vega:OTTHUMG00000128677
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIQ; NPHP5; SLSN5
Summary
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 of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in testis (RPKM 16.8), lymph node (RPKM 10.7) and 25 other tissues See more
Orthologs
See IQCB1 in Genome Data Viewer
Location:
3q13.33; 3q21.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (121769761..121835079, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121488608..121553926, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene hematopoietic cell-specific Lyn substrate 1 Neighboring gene RNA, U4 small nuclear 62, pseudogene Neighboring gene golgin B1 Neighboring gene ELL associated factor 2 Neighboring gene solute carrier family 15 member 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of animal organ identity IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
mitotic spindle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
IQ calmodulin-binding motif-containing protein 1
Names
nephrocystin 5
p53 and DNA damage-regulated IQ motif protein

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.

Genomic

  1. NG_015887.1 RefSeqGene

    Range
    5001..70319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001023570.3NP_001018864.2  IQ calmodulin-binding motif-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_001018864.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 4 encoded the same isoform (a).
    Source sequence(s)
    AC119736, AY714228, AY964668, BX393165, D25278
    Consensus CDS
    CCDS33837.1
    UniProtKB/Swiss-Prot
    Q15051
    Related
    ENSP00000311505.6, OTTHUMP00000158861, ENST00000310864.10, OTTHUMT00000250573
    Conserved Domains (1) summary
    smart00015
    Location:387408
    IQ; Calmodulin-binding motif
  2. NM_001023571.3NP_001018865.2  IQ calmodulin-binding motif-containing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001018865.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks alternate in-frame exons in the CDS, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
    Source sequence(s)
    AC119736, AL042102, AY964668, BC005806, BG721354, BX393165, D25278
    Consensus CDS
    CCDS33836.1
    UniProtKB/Swiss-Prot
    Q15051
    Related
    ENSP00000323756.7, OTTHUMP00000214823, ENST00000349820.10, OTTHUMT00000354567
    Conserved Domains (1) summary
    smart00015
    Location:254275
    IQ; Calmodulin-binding motif
  3. NM_001319107.1NP_001306036.1  IQ calmodulin-binding motif-containing protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encoded the same isoform (a).
    Source sequence(s)
    AC119736, AY964668
    Consensus CDS
    CCDS33837.1
    UniProtKB/Swiss-Prot
    Q15051
    Conserved Domains (1) summary
    smart00015
    Location:387408
    IQ; Calmodulin-binding motif

RNA

  1. NR_134968.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) use alternate splice site and lacks an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB062481, AC119736, HY195680

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    121769761..121835079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513335.3XP_011511637.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011511637.1

    Conserved Domains (1) summary
    smart00015
    Location:203224
    IQ; Calmodulin-binding motif
  2. XM_005247912.3XP_005247969.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005247969.1

    Conserved Domains (1) summary
    smart00015
    Location:203224
    IQ; Calmodulin-binding motif
  3. XM_024453834.1XP_024309602.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

    Conserved Domains (1) summary
    smart00015
    Location:203224
    IQ; Calmodulin-binding motif
  4. XM_017007537.2XP_016863026.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

    Conserved Domains (1) summary
    smart00015
    Location:203224
    IQ; Calmodulin-binding motif
  5. XM_017007539.2XP_016863028.1  IQ calmodulin-binding motif-containing protein 1 isoform X3

  6. XM_005247911.4XP_005247968.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

    Conserved Domains (1) summary
    smart00015
    Location:387408
    IQ; Calmodulin-binding motif
  7. XM_024453833.1XP_024309601.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

    Conserved Domains (1) summary
    smart00015
    Location:203224
    IQ; Calmodulin-binding motif

RNA

  1. XR_001740381.2 RNA Sequence

  2. XR_001740379.2 RNA Sequence

  3. XR_001740380.2 RNA Sequence

  4. XR_001740378.2 RNA Sequence

    Related
    ENST00000393650.7
  5. XR_001740377.2 RNA Sequence

  6. XR_001740376.2 RNA Sequence

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