Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 9657, updated on 16-Jul-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IQCB1 in Genome Data Viewer
    Location:
    3q13.33; 3q21.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (121769761..121835060, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121488608..121553907, 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in maintenance of animal organ identity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    IQ calmodulin-binding motif-containing protein 1
    Names
    nephrocystin 5
    p53 and DNA damage-regulated IQ motif protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5020..70319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001023570.4NP_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, ENST00000310864.11
      Conserved Domains (1) summary
      smart00015
      Location:387408
      IQ; Calmodulin-binding motif
    2. NM_001023571.4NP_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, ENST00000349820.10
      Conserved Domains (1) summary
      smart00015
      Location:254275
      IQ; Calmodulin-binding motif
    3. NM_001319107.2NP_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_134968.2 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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      121769761..121835060 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

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014642.2: Suppressed sequence

      Description
      NM_014642.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Support Center