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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

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