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    CCIN calicin [ Homo sapiens (human) ]

    Gene ID: 881, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CCINprovided by HGNC
    Official Full Name
    calicinprovided by HGNC
    Primary source
    HGNC:HGNC:1568
    See related
    Ensembl:ENSG00000185972 MIM:603960; AllianceGenome:HGNC:1568
    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
    Also known as
    BTBD20; SPGF91; KBTBD14
    Summary
    The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]
    Orthologs
    mouse all
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    Genomic context

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    See CCIN in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (36169388..36171334)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (36191394..36193340)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (36169385..36171331)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19885 Neighboring gene reversion inducing cysteine rich protein with kazal motifs Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36102296-36102796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28346 Neighboring gene GLI pathogenesis related 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:36162329-36162909 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:36161748-36162328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36166491-36166991 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:36190553-36191178 Neighboring gene uncharacterized LOC124902151 Neighboring gene clathrin light chain A Neighboring gene ReSE screen-validated silencer GRCh37_chr9:36245133-36245303 Neighboring gene glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19891 Neighboring gene uncharacterized LOC124902150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28349 Neighboring gene RNA, U4 small nuclear 53, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutations in CCIN cause teratozoospermia and male infertility. Fan Y, et al. Sci Bull (Beijing), 2022 Oct 31. PMID 36546111
    2. Actin-binding properties and colocalization with actin during spermiogenesis of mammalian sperm calicin. Lécuyer C, et al. Biol Reprod, 2000 Dec. PMID 11090452
    3. Molecular nature of calicin, a major basic protein of the mammalian sperm head cytoskeleton. von Bülow M, et al. Exp Cell Res, 1995 Aug. PMID 7641791
    4. Disruption in CYLC1 leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and mice. Jin HJ, et al. Elife, 2024 Apr 4. PMID 38573307, Free PMC Article
    5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeletal calyx IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    calicin
    Names
    testis tissue sperm-binding protein Li 65n

    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_005893.3 → NP_005884.2  calicin

      See identical proteins and their annotated locations for NP_005884.2

      Status: REVIEWED

      Source sequence(s)
      AK313763, AL158830, BC019251
      Consensus CDS
      CCDS6599.1
      UniProtKB/Swiss-Prot
      Q13939, Q9BXG7
      UniProtKB/TrEMBL
      Q8WWB2, Q8WX35
      Related
      ENSP00000334996.2, ENST00000335119.4
      Conserved Domains (7) summary
      smart00225
      Location:29 → 128
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:133 → 234
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:317 → 362
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:18 → 125
      BTB; BTB/POZ domain
      pfam01344
      Location:366 → 410
      Kelch_1; Kelch motif
      pfam13418
      Location:515 → 568
      Kelch_4; Galactose oxidase, central domain
      pfam13964
      Location:321 → 364
      Kelch_6; Kelch motif

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      36169388..36171334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      36191394..36193340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13939.3 GenPept UniProtKB/Swiss-Prot:Q13939

    Gene LinkOut

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

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