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

Gene ID: 124152, updated on 11-Jun-2021

Summary

Official Symbol
IQCKprovided by HGNC
Official Full Name
IQ motif containing Kprovided by HGNC
Primary source
HGNC:HGNC:28556
See related
Ensembl:ENSG00000174628
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
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Genomic context

See IQCK in Genome Data Viewer
Location:
16p12.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (19718271..19858467)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19727778..19869789)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene VPS35 endosomal protein sorting factor like Neighboring gene lysine rich nucleolar protein 1 Neighboring gene uncharacterized LOC105371115 Neighboring gene LARP7 pseudogene 2 Neighboring gene G protein-coupled receptor class C group 5 member B Neighboring gene uncharacterized LOC105371116 Neighboring gene uncharacterized LOC105371117

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?

Phenotypes

Associated conditions

Description Tests
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20115, FLJ36575, MGC35048

General protein information

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_001305121.3NP_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/Swiss-Prot
    Q8N0W5
    UniProtKB/TrEMBL
    B4E1V3
  2. NM_001305122.3NP_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/Swiss-Prot
    Q8N0W5
    UniProtKB/TrEMBL
    B4DXE1
  3. NM_001394804.1NP_001381733.1  IQ domain-containing protein K isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC002550, AC027130, AC134300
  4. NM_001394805.1NP_001381734.1  IQ domain-containing protein K isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC002550, AC027130, AC134300
  5. NM_001394806.1NP_001381735.1  IQ domain-containing protein K isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC002550, AC027130, AC134300
  6. NM_153208.3NP_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
    Q8N0W5
    Related
    ENSP00000324901.6, ENST00000320394.10

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: 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_000016.10 Reference GRCh38.p13 Primary Assembly

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