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    CYLC1 cylicin 1 [ Homo sapiens (human) ]

    Gene ID: 1538, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CYLC1provided by HGNC
    Official Full Name
    cylicin 1provided by HGNC
    Primary source
    HGNC:HGNC:2582
    See related
    Ensembl:ENSG00000183035 MIM:300768; AllianceGenome:HGNC:2582
    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
    CYCL1; SPGFX8
    Summary
    This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
    Expression
    Restricted expression toward testis (RPKM 13.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See CYLC1 in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (83861146..83886698)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (82294715..82321619)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (83116154..83141706)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene POMP pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29794 Neighboring gene TERF1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:83239627-83240128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:83240129-83240628 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:83298980-83299480 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:83301391-83301957 Neighboring gene ribosomal protein S6 kinase A6 Neighboring gene microRNA 548i-4

    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. X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. Siddiqui RA, et al. Am J Hum Genet, 2009 Aug. PMID 19679225, Free PMC Article
    2. The protein complexity of the cytoskeleton of bovine and human sperm heads: the identification and characterization of cylicin II. Hess H, et al. Exp Cell Res, 1995 May. PMID 7737358
    3. Cylicins are a structural component of the sperm calyx being indispensable for male fertility in mice and human. Schneider S, et al. Elife, 2023 Nov 28. PMID 38013430, Free PMC Article
    4. Molecular characterization of mammalian cylicin, a basic protein of the sperm head cytoskeleton. Hess H, et al. J Cell Biol, 1993 Sep. PMID 8354692, Free PMC Article
    5. 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

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption in CYLC1 leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and mice.
      Title: Disruption in CYLC1 leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and mice.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acrosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in acrosomal matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in acrosomal matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoskeletal calyx IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 
    located_in sperm head IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cylicin-1
    Names
    cylicin I
    cylicin, basic protein of sperm head cytoskeleton 1
    multiple-band polypeptide I

    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_001271680.2 → NP_001258609.1  cylicin-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon compared to variant 1. It encodes a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AL627233, BX110674, DB028115
      Consensus CDS
      CCDS75998.1
      UniProtKB/TrEMBL
      A0A087WXC8
      Related
      ENSP00000480907.1, ENST00000621735.4
      Conserved Domains (1) summary
      pfam15241
      Location:7 → 57
      Cylicin_N; Cylicin N-terminus

    2. NM_021118.3 → NP_066941.1  cylicin-1 isoform 1

      See identical proteins and their annotated locations for NP_066941.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC058019, BC126461, BX110674, Z22780
      Consensus CDS
      CCDS35341.1
      UniProtKB/Swiss-Prot
      A0AVQ8, P35663, Q5JQQ9
      UniProtKB/TrEMBL
      Q3ZCV3
      Related
      ENSP00000331556.4, ENST00000329312.5
      Conserved Domains (1) summary
      pfam15241
      Location:8 → 114
      Cylicin_N; Cylicin N-terminus

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      83861146..83886698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262086.5 → XP_005262143.1  cylicin-1 isoform X1

      UniProtKB/TrEMBL
      Q3ZCV3
      Conserved Domains (1) summary
      pfam15241
      Location:7 → 113
      Cylicin_N; Cylicin N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      82294715..82321619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326528.1 → XP_054182503.1  cylicin-1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35663.2 GenPept UniProtKB/Swiss-Prot:P35663

    Gene LinkOut

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

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