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FLASH GENE
Symbol CATSPER1 contributors: mct - updated : 22-03-2019
HGNC name cation channel, sperm associated 1
HGNC id 17116
Corresponding disease
NSMI nonsyndromic male infertility
Location 11q13.1      Physical location : 65.784.223 - 65.793.988
Genatlas name sperm-associated cation channel 1
Synonym name
  • cation channel of sperm
  • sperm-associated cation channel 1
  • sperm ion channel
  • cation channel sperm-associated protein 1
  • hCatSper
  • Synonym symbol(s) CATSPER, MGC33335, MGC33368, SPGF7
    DNA
    TYPE functioning gene
    STRUCTURE 9.76 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • immediate upstream region and the first exon in the human CATSPER1 gene negatively regulate transcriptional activity
  • promoter sequence is enriched in potential interaction sites for the sex-determining region Y gene (SRY), which suggest a novel regulatory transcriptional mechanism for CATSPER1 channel expression
  • MAPPING cloned Y linked N status provisional
    Map cen - D11S4205 - D11S1883 - CATSPER1 - D11S913 - D11S1889 - qter
    Physical map
    RELA 11q13 v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian) SIPA1 11q13.3 signal-induced proliferation-associated gene 1 LOC387782 11 LOC387782 HTATIP 11q13 HIV-1 Tat interactive protein, 60kDa AYP1 11q13.1 AYP1 protein LOC390211 11 similar to Keratin, type II cytoskeletal 8 (Cytokeratin 8) (K8) (CK 8) LOC91056 11q13.1 hypothetical protein BC004895 OVOL1 11q13 ovo-like 1(Drosophila) FLJ30934 11q13.1 hypothetical protein FLJ30934 CFL1 11q13 cofilin 1 (non-muscle) MUS81 11q13 MUS81 endonuclease homolog (yeast) EFEMP2 11q13 EGF-containing fibulin-like extracellular matrix protein 2 CTSW 11q13.1 cathepsin W (lymphopain) FIBP 11q13.1 fibroblast growth factor (acidic) intracellular binding protein DIPA 11q12.1 hepatitis delta antigen-interacting protein A FOSL1 11q13 FOS-like antigen 1 P5326 11q13.1 hypothetical protein p5326 DRAP1 11q13.3 DR1-associated protein 1 (negative cofactor 2 alpha) FLJ32880 11q13.1 hypothetical protein FLJ32880 SART1 11q12-q13 squamous cell carcinoma antigen recognised by T cells MGC11102 11q13.1 hypothetical protein MGC11102 BANF1 11q13.1 barrier to autointegration factor 1 CST6 11q13.2 cystatin E/M CATSPER1 11q12.1 cation channel, sperm associated 1 GAL3ST2 11q13 cation channel, sperm associated 1 SF3B2 11cen-q23 splicing factor 3b, subunit 2, 145kDa PACS1 11q13.1 phosphofurin acidic cluster sorting protein 1 KLC2 11q13.1 phosphofurin acidic cluster sorting protein 1 RAB1B 11q12 RAB1B, member RAS oncogene family MGC50896 11q13.1 hypothetical protein MGC50896 YIF1 11q13 Yip1 interacting factor homolog (S. cerevisiae) MGC33486 11q13.1 hypothetical protein MGC33486
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2634 - 780 - 2015 26453676
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatozoa Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a single, six-transmembrane-spanning repeat with a P loop between transmembrane domains S5 and S6
  • an intracellular N-terminal histidine-rich region
  • a predicted calcium-selective pore region
  • six-transmembrane-spanning repeat of the voltage-dependent Ca2+-channel four-repeat structure (
  • HOMOLOGY
    interspecies ortholog to Catsper1, Mus musculus
    ortholog to Catsper1, <<
    Homologene
    FAMILY
  • cation channel sperm-associated family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text restricted to the plasma membrane of spermatozoa above the fibrous sheath in the principal piece of the sperm tail
    basic FUNCTION
  • being vital to cAMP-mediated calcium influx in sperm, sperm mobility and fertilization
  • having required roles in male fertility
  • required for Ca2+ entry into the flagellum and for Ca2+-mediated hyperactivated sperm motility
  • CATSPER channel complex serves as a polymodal sensor for multiple chemical cues that assist sperm during their voyage across the female genital tract
  • CATSPER1, CATSPER2 are voltage-dependent calcium channels located in the plasma membrane of the sperm flagellum and is responsible for triggering hyperactive motility
  • encodes a pore-forming and pH-sensing subunit of the CATSPER Ca2+- permeable channel, a protein in the flagellum essential for sperm hyperactivation
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS reproduction/sex
    text cation channel (voltage-gated- channel)
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • voltage-gated calcium channel Ca(v)3.3 (
  • molecular mechanism responsible for activation of CATSPER1, CATSPER2 by progesterone arises early in sperm development concurrently with the CATSPER channel itself
  • transcription factors SOX5 and SOX9 caused a significant increase in transactivation of the CATSPER1 promoter in heterologous systems, and both transcription factors interact with the CATSPER1 promoter
  • critical role of LRRC52 in CATSPER1 channels and loss of a non-pore-forming auxiliary subunit results in severe fertility impairment
  • CRISP1 has the ability to regulate CATSPER1, the principal sperm Ca(2+) channel involved in hyperactivation and essential for fertility
  • transcriptional factor SRY specifically binds to different sites in the promoter sequence and has the ability to control CATSPER1 gene transcription
  • CRISP2 can bind to the CATSPER1 subunit of the Catsper ion channel which is required for normal sperm motility
  • cell & other
    REGULATION
    activated by in response to intracellular alkalinization, increasing the concentration of intraflagellar calcium and thereby inducing hyperactivity of psermatozoa
    progesterone and alkaline pH (
    ASSOCIATED DISORDERS
    corresponding disease(s) NSMI
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    impairs the phase of motility of spermatozoa
    constitutional       loss of function
    loss of CATSPER1 function is sufficient to compromise fertilizing capacity of human spermatozoa
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    reproductioncontraception 
    blocking CATSPER1 activity could be useful as a male contraceptive
    ANIMAL & CELL MODELS
    Catsper 1 knock-out mice leads male sterility: sperm motility is decreased markedly in CatSper-/- mice, and CatSper-/- sperm are unable to fertilize intact eggs