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    IQCK IQ motif containing K [ Homo sapiens (human) ]

    Gene ID: 124152, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IQCKprovided by HGNC
    Official Full Name
    IQ motif containing Kprovided by HGNC
    Primary source
    HGNC:HGNC:28556
    See related
    Ensembl:ENSG00000174628 AllianceGenome:HGNC:28556
    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
    Summary
    This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Broad expression in brain (RPKM 34.9), testis (RPKM 17.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IQCK in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19718271..19858467)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19649074..19789259)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19729593..19869789)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19566659-19567621 Neighboring gene VPS35 endosomal protein sorting factor like Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:19620544-19621743 Neighboring gene NANOG hESC enhancer GRCh37_chr16:19673654-19674240 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:19698132-19698632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19710103-19710758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19710759-19711413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19721101-19721825 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19721826-19722552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19723278-19724003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10534 Neighboring gene lysine rich nucleolar protein 1 Neighboring gene uncharacterized LOC105371115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19778410-19778910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19778911-19779411 Neighboring gene LARP7 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19864519-19865437 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19865438-19866357 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:19869508-19870707 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19871981-19872562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19873143-19873723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19879518-19880020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19883504-19884004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19887125-19887940 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19890529-19891258 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19891259-19891990 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19891991-19892720 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:19892721-19893452 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:19893453-19894182 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:19894183-19894913 Neighboring gene Sharpr-MPRA regulatory region 8054 Neighboring gene G protein-coupled receptor class C group 5 member B Neighboring gene uncharacterized LOC105371116 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:19980466-19980966 Neighboring gene uncharacterized LOC105371117 Neighboring gene uncharacterized LOC124903660

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genetic variation at the CELF1 (CUGBP, elav-like family member 1 gene) locus is genome-wide associated with Alzheimer's disease and obesity. Hinney A, et al. Am J Med Genet B Neuropsychiatr Genet, 2014 Jun. PMID 24788522
    2. Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. Mattheisen M, et al. Mol Psychiatry, 2015 Mar. PMID 24821223, Free PMC Article
    3. Tumor-suppressor role for the SPOP ubiquitin ligase in signal-dependent proteolysis of the oncogenic co-activator SRC-3/AIB1. Li C, et al. Oncogene, 2011 Oct 20. PMID 21577200, Free PMC Article
    4. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Speliotes EK, et al. Nat Genet, 2010 Nov. PMID 20935630, Free PMC Article
    5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Loftus BJ, et al. Genomics, 1999 Sep 15. PMID 10493829

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20115, FLJ36575, MGC35048

    General protein information

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    Preferred Names
    IQ domain-containing protein K

    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)

    1. NM_001305121.3 → NP_001292050.1  IQ domain-containing protein K isoform 2

      See identical proteins and their annotated locations for NP_001292050.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2 and 7 both encode the same isoform (2).
      Source sequence(s)
      AC002550, AC027130, AC134300
      UniProtKB/TrEMBL
      B4E1V3

    2. NM_001305122.3 → NP_001292051.1  IQ domain-containing protein K isoform 3

      See identical proteins and their annotated locations for NP_001292051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC002550, AC027130, AC134300
      UniProtKB/TrEMBL
      B4DXE1

    3. NM_001394804.1 → NP_001381733.1  IQ domain-containing protein K isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC002550, AC027130, AC134300
      Consensus CDS
      CCDS10580.1
      UniProtKB/Swiss-Prot
      B2RDU0, O43327, Q8N0W5, Q8NFF4
      UniProtKB/TrEMBL
      I3L193
      Related
      ENSP00000458669.1, ENST00000564186.5

    4. NM_001394805.1 → NP_001381734.1  IQ domain-containing protein K isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC002550, AC027130, AC134300
      UniProtKB/TrEMBL
      B4E1V3

    5. NM_001394806.1 → NP_001381735.1  IQ domain-containing protein K isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC002550, AC027130, AC134300
      UniProtKB/TrEMBL
      I3L193

    6. NM_153208.3 → NP_694940.1  IQ domain-containing protein K isoform 1

      See identical proteins and their annotated locations for NP_694940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 6 both encode the same isoform (1).
      Source sequence(s)
      AC002550, AC027130, AC134300
      Consensus CDS
      CCDS10580.1
      UniProtKB/Swiss-Prot
      B2RDU0, O43327, Q8N0W5, Q8NFF4
      UniProtKB/TrEMBL
      I3L193
      Related
      ENSP00000511791.1, ENST00000695302.1

    RNA

    1. NR_130967.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate internal exons, 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)
      AC002550, AC134300

    2. NR_130968.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate internal 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)
      AC002550, AC027130, AC134300

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19718271..19858467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      19649074..19789259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0W5.1 GenPept UniProtKB/Swiss-Prot:Q8N0W5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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