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

Gene ID: 64799, updated on 17-Sep-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
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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: HPA RNA-seq normal tissues 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. 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)

Genotypes

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

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Chemical Information
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