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    IQCH IQ motif containing H [ Homo sapiens (human) ]

    Gene ID: 64799, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IQCHprovided by HGNC
    Official Full Name
    IQ motif containing Hprovided by HGNC
    Primary source
    HGNC:HGNC:25721
    See related
    Ensembl:ENSG00000103599 MIM:612523; AllianceGenome:HGNC:25721
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NYDSP5
    Expression
    Biased expression in testis (RPKM 4.7), thyroid (RPKM 1.3) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IQCH in Genome Data Viewer
    Location:
    15q23
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (67254786..67501804)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (65076702..65323823)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (67547124..67794142)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SMAD family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67438421-67439356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67439357-67440291 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67440670-67441477 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:67442285-67443092 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40600 Neighboring gene SMAD3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67459191-67459860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67459861-67460532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67460533-67461202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9627 Neighboring gene alpha and gamma adaptin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9628 Neighboring gene ribosomal protein S24 pseudogene 16 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67569773-67569933 Neighboring gene VISTA enhancer hs358 Neighboring gene Sharpr-MPRA regulatory region 12968 Neighboring gene IQCH antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13361 Neighboring gene uncharacterized LOC124903511 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67794233-67794407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67833981-67834481 Neighboring gene chromosome 15 open reading frame 61 Neighboring gene MAP2K5 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association analysis with selective genotyping identifies candidate loci for adult height at 8q21.13 and 15q22.33-q23 in Mongolians. Kimura T, et al. Hum Genet, 2008 Jul. PMID 18491143, Free PMC Article
    2. An ancient testis-specific IQ motif-containing H gene regulates specific transcript isoform expression during spermatogenesis. Navarrete-López P, et al. Development, 2023 Apr 1. PMID 36975404, Free PMC Article
    3. Identification of a novel testis-specific gene and its potential roles in testis development/spermatogenesis. Yin LL, et al. Asian J Androl, 2005 Jun. PMID 15897968
    4. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article
    5. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association analysis with selective genotyping identifies candidate loci for adult height at 8q21.13 and 15q22.33-q23 in Mongolians.
    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
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    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

    • FLJ12476, DKFZp434F2114

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    IQ domain-containing protein H
    Names
    testis development protein NYD-SP5

    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_001031715.3 → NP_001026885.2  IQ domain-containing protein H isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC016355, AC106000, AC110292
      Consensus CDS
      CCDS32273.1
      UniProtKB/Swiss-Prot
      A8K8W3, C9JPR6, D6RJ88, Q4G0S6, Q86VS3, Q8NEH9, Q9BWX2, Q9H9Y1, Q9UF88
      Related
      ENSP00000336861.4, ENST00000335894.9

    2. NM_001284347.2 → NP_001271276.2  IQ domain-containing protein H isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC016355, AC106000, AC110292
      Consensus CDS
      CCDS61681.1
      Related
      ENSP00000444118.1, ENST00000546225.5

    3. NM_001284348.2 → NP_001271277.2  IQ domain-containing protein H isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (4) has distinct N- and C- termini and is shorter than isoform 1.
      Source sequence(s)
      AC016355, AC106000, AC110292
      Consensus CDS
      CCDS61680.1
      Related
      ENSP00000351617.4, ENST00000358767.7

    4. NM_001284349.2 → NP_001271278.1  IQ domain-containing protein H isoform 5

      See identical proteins and their annotated locations for NP_001271278.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (5) has a shorter N-terminus, a distinct C-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AC110292, BC031041, BC039463
      Consensus CDS
      CCDS76772.1
      UniProtKB/Swiss-Prot
      Q86VS3
      Related
      ENSP00000486970.1, ENST00000629425.2
      Conserved Domains (1) summary
      TIGR00805
      Location:57 → 119
      oat; sodium-independent organic anion transporter

    5. NM_001322470.2 → NP_001309399.1  IQ domain-containing protein H isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292
      Conserved Domains (1) summary
      TIGR00805
      Location:57 → 119
      oat; sodium-independent organic anion transporter

    6. NM_001322471.2 → NP_001309400.1  IQ domain-containing protein H isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292

    7. NM_001322472.2 → NP_001309401.1  IQ domain-containing protein H isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292

    8. NM_001322473.2 → NP_001309402.1  IQ domain-containing protein H isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292
      Conserved Domains (1) summary
      TIGR00805
      Location:57 → 119
      oat; sodium-independent organic anion transporter

    9. NM_001322474.2 → NP_001309403.1  IQ domain-containing protein H isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292
      Conserved Domains (1) summary
      TIGR00805
      Location:57 → 119
      oat; sodium-independent organic anion transporter

    10. NM_001322475.2 → NP_001309404.2  IQ domain-containing protein H isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292
      Conserved Domains (1) summary
      TIGR00805
      Location:57 → 119
      oat; sodium-independent organic anion transporter

    11. NM_022784.3 → NP_073621.2  IQ domain-containing protein H isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains two alternate 3' exons, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC110292, BC039463
      Consensus CDS
      CCDS10223.2
      UniProtKB/TrEMBL
      B4E2J4
      Related
      ENSP00000427323.1, ENST00000512104.5

    RNA

    1. NR_147832.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC016355, AC106000, AC110292
      Related
      ENST00000514049.5

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      67254786..67501804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      65076702..65323823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VS3.2 GenPept UniProtKB/Swiss-Prot:Q86VS3

    Gene LinkOut

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

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