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IQCN IQ motif containing N [ Homo sapiens (human) ]

Gene ID: 80726, updated on 5-Mar-2024

Summary

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Official Symbol
IQCNprovided by HGNC
Official Full Name
IQ motif containing Nprovided by HGNC
Primary source
HGNC:HGNC:29350
See related
Ensembl:ENSG00000130518 MIM:620160; AllianceGenome:HGNC:29350
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
SPGF78; KIAA1683
Summary
Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 15.0), lung (RPKM 1.4) and 4 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
19p13.11
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18257098..18274452, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18391196..18408552, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18367908..18385262, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102725254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10379 Neighboring gene phosphodiesterase 4C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:18330099-18331298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18342361-18343052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18359151-18360054 Neighboring gene colon, intestine and stomach enriched 1 Neighboring gene Sharpr-MPRA regulatory region 4774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10383 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18391566-18392417 Neighboring gene uncharacterized LOC124904652 Neighboring gene microRNA 3188 Neighboring gene JunD proto-oncogene, AP-1 transcription factor subunit

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. Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure. Wang Y, et al. Mol Hum Reprod, 2023 Jun 30. PMID 37184908
  2. IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect. Dai J, et al. EMBO Mol Med, 2022 Dec 7. PMID 36321563, Free PMC Article
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
  4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility.
    Title: Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility.
  2. Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure.
    Title: Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  4. 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.
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

Associated conditions

Description Tests
Spermatogenic failure 78
MedGen: C5774276 OMIM: 620170 GeneReviews: Not available
not available

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

  • MGC131731

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in spermatid development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
IQ domain-containing protein N

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_001145304.2 → NP_001138776.1  IQ domain-containing protein N isoform a

    See identical proteins and their annotated locations for NP_001138776.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC008397, AL136867, BC112932, DC403083
    Consensus CDS
    CCDS46017.1
    UniProtKB/Swiss-Prot
    Q9H0B3
    Related
    ENSP00000376213.2, ENST00000392413.5
    Conserved Domains (5) summary
    smart00015
    Location:1137 → 1156
    IQ; Calmodulin-binding motif
    PHA03247
    Location:351 → 862
    PHA03247; large tegument protein UL36; Provisional
    COG5022
    Location:1118 → 1195
    COG5022; Myosin heavy chain [General function prediction only]
    pfam05109
    Location:276 → 558
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam00612
    Location:1116 → 1134
    IQ; IQ calmodulin-binding motif

  2. NM_001145305.2 → NP_001138777.1  IQ domain-containing protein N isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream start codon and lack of an internal in-frame segment, compared to variant 1. The encoded protein (isoform c) is shorter than isoform a.
    Source sequence(s)
    AK302431, AL136867, BC127100, DC403083
    Consensus CDS
    CCDS46018.1
    UniProtKB/Swiss-Prot
    Q9H0B3
    UniProtKB/TrEMBL
    A0JP07
    Related
    ENSP00000472912.1, ENST00000600359.7
    Conserved Domains (6) summary
    smart00015
    Location:904 → 923
    IQ; Calmodulin-binding motif
    PHA03247
    Location:305 → 816
    PHA03247; large tegument protein UL36; Provisional
    COG5022
    Location:885 → 962
    COG5022; Myosin heavy chain [General function prediction only]
    pfam05109
    Location:230 → 512
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd22307
    Location:34 → 138
    Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
    pfam00612
    Location:883 → 901
    IQ; IQ calmodulin-binding motif

  3. NM_025249.4 → NP_079525.1  IQ domain-containing protein N isoform b

    See identical proteins and their annotated locations for NP_079525.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the internal coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AL136867, DB078391, DC403083
    Consensus CDS
    CCDS32958.1
    UniProtKB/Swiss-Prot
    B4DYH2, E9PDE0, E9PH54, Q2KHR5, Q8N4G8, Q96M14, Q9C0I0, Q9H0B3
    Related
    ENSP00000470780.1, ENST00000600328.7
    Conserved Domains (2) summary
    smart00015
    Location:950 → 969
    IQ; Calmodulin-binding motif
    pfam00612
    Location:929 → 947
    IQ; IQ calmodulin-binding motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    18257098..18274452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260084.2 → XP_005260141.1  IQ domain-containing protein N isoform X1

    See identical proteins and their annotated locations for XP_005260141.1

    UniProtKB/Swiss-Prot
    Q9H0B3
    Conserved Domains (5) summary
    smart00015
    Location:1137 → 1156
    IQ; Calmodulin-binding motif
    PHA03247
    Location:351 → 862
    PHA03247; large tegument protein UL36; Provisional
    COG5022
    Location:1118 → 1195
    COG5022; Myosin heavy chain [General function prediction only]
    pfam05109
    Location:276 → 558
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam00612
    Location:1116 → 1134
    IQ; IQ calmodulin-binding motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18391196..18408552 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322240.1 → XP_054178215.1  IQ domain-containing protein N isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0B3.1 GenPept UniProtKB/Swiss-Prot:Q9H0B3

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