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    IQCF1 IQ motif containing F1 [ Homo sapiens (human) ]

    Gene ID: 132141, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IQCF1provided by HGNC
    Official Full Name
    IQ motif containing F1provided by HGNC
    Primary source
    HGNC:HGNC:28607
    See related
    Ensembl:ENSG00000173389 AllianceGenome:HGNC:28607
    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
    Summary
    Predicted to enable calmodulin binding activity. Predicted to be involved in positive regulation of acrosome reaction and positive regulation of flagellated sperm motility involved in capacitation. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 24.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See IQCF1 in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51894876..51903353, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (51927807..51936279, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (51928892..51937369, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 504, pseudogene Neighboring gene IQCF5 antisense RNA 1 Neighboring gene IQ motif containing F5 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:51935927-51937126 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:51975282-51975930 Neighboring gene ribosomal RNA processing 9, U3 small nucleolar RNA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19921 Neighboring gene poly(ADP-ribose) polymerase family member 3

    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. A novel acrosomal protein, IQCF1, involved in sperm capacitation and the acrosome reaction. Fang P, et al. Andrology, 2015 Mar. PMID 25380116
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    3. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article
    4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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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    Homology

    Clone Names

    • FLJ27508, MGC39725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of acrosome reaction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of acrosome reaction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of flagellated sperm motility involved in capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    IQ domain-containing protein F1

    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_152397.3 → NP_689610.2  IQ domain-containing protein F1

      See identical proteins and their annotated locations for NP_689610.2

      Status: VALIDATED

      Source sequence(s)
      AC097636, BC029595
      Consensus CDS
      CCDS2836.1
      UniProtKB/Swiss-Prot
      Q8N6M8, Q8N711
      Related
      ENSP00000307958.5, ENST00000310914.10
      Conserved Domains (1) summary
      pfam11374
      Location:86 → 143
      DUF3176; Protein of unknown function (DUF3176)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      51894876..51903353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005729.1 → XP_016861218.1  IQ domain-containing protein F1 isoform X1

      Conserved Domains (1) summary
      pfam11374
      Location:51 → 108
      DUF3176; Protein of unknown function (DUF3176)

    2. XM_011533366.2 → XP_011531668.1  IQ domain-containing protein F1 isoform X2

      See identical proteins and their annotated locations for XP_011531668.1

      Conserved Domains (1) summary
      pfam11374
      Location:51 → 108
      DUF3176; Protein of unknown function (DUF3176)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      51927807..51936279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345278.1 → XP_054201253.1  IQ domain-containing protein F1 isoform X1

    2. XM_054345279.1 → XP_054201254.1  IQ domain-containing protein F1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6M8.2 GenPept UniProtKB/Swiss-Prot:Q8N6M8

    Gene LinkOut

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

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