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    CYLC1 cylicin 1 [ Homo sapiens (human) ]

    Gene ID: 1538, updated on 16-Apr-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
    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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    Location:
    Xq21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (83861146..83886698)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (82294715..82321619)
    105.20220307 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
    • 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. 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
    4. Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation. Ficarro S, et al. J Biol Chem, 2003 Mar 28. PMID 12509440
    5. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article

    See all (11) 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 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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 cytoskeletal calyx IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus HDA 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_2023_10

    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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