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    CATSPERE catsper channel auxiliary subunit epsilon [ Homo sapiens (human) ]

    Gene ID: 257044, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CATSPEREprovided by HGNC
    Official Full Name
    catsper channel auxiliary subunit epsilonprovided by HGNC
    Primary source
    HGNC:HGNC:28491
    See related
    Ensembl:ENSG00000179397 MIM:617510; AllianceGenome:HGNC:28491
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1orf101; C10orf101
    Summary
    Predicted to be involved in flagellated sperm motility and sperm capacitation. Located in sperm principal piece. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 9.2) and bone marrow (RPKM 0.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See CATSPERE in Genome Data Viewer
    Location:
    1q44
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244451242..244640504)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243867529..244056769)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244624575..244803806)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:244517816-244518334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:244524996-244525821 Neighboring gene sperm microtubule inner protein 3 Neighboring gene TGFB induced factor homeobox 2 pseudogene 1 Neighboring gene adenylosuccinate synthase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2014 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:244676451-244676951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2840 Neighboring gene MPRA-validated peak807 silencer Neighboring gene CYCS pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244806024-244806577 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:244815099-244815672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2016 Neighboring gene desumoylating isopeptidase 2 Neighboring gene MPRA-validated peak808 silencer Neighboring gene ribosomal protein L37 pseudogene 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244892764-244893500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244893501-244894238 Neighboring gene chromosome 1 open reading frame 202

    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. CatSperζ regulates the structural continuity of sperm Ca(2+) signaling domains and is required for normal fertility. Chung JJ, et al. Elife, 2017 Feb 23. PMID 28226241, Free PMC Article
    2. Delineating WWOX Protein Interactome by Tandem Affinity Purification-Mass Spectrometry: Identification of Top Interactors and Key Metabolic Pathways Involved. Hussain T, et al. Front Oncol, 2018. PMID 30619736, Free PMC Article
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33370

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm capacitation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of CatSper complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of CatSper complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm principal piece IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm principal piece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cation channel sperm-associated auxiliary subunit epsilon
    Names
    catSper-epsilon
    catSperepsilon
    cation channel sperm-associated protein subunit epsilon
    uncharacterized protein C1orf101

    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.

    Genomic

    1. NG_029082.2 RefSeqGene

      Range
      15033..194264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130957.2 → NP_001124429.1  cation channel sperm-associated auxiliary subunit epsilon isoform 1 precursor

      See identical proteins and their annotated locations for NP_001124429.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC099757, AL591594, BC028392, BC032859, BX648685, DB462258
      Consensus CDS
      CCDS44340.1
      UniProtKB/Swiss-Prot
      B4DZR4, B7Z7X5, E9PEA3, Q5SY80, Q8IYZ6
      UniProtKB/TrEMBL
      B1AQM6
      Related
      ENSP00000355492.4, ENST00000366534.9
      Conserved Domains (1) summary
      pfam15020
      Location:699 → 902
      CATSPERD; Cation channel sperm-associated protein subunit delta

    2. NM_001242340.2 → NP_001229269.1  cation channel sperm-associated auxiliary subunit epsilon isoform 3

      See identical proteins and their annotated locations for NP_001229269.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons in the 5' coding region compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC099757, AK303059, AL591594, BC032859, DB462258
      Consensus CDS
      CCDS55693.1
      UniProtKB/TrEMBL
      B1AQM6
      Related
      ENSP00000355489.3, ENST00000366531.7
      Conserved Domains (1) summary
      pfam15020
      Location:548 → 751
      CATSPERD; Cation channel sperm-associated protein subunit delta

    3. NM_173807.5 → NP_776168.1  cation channel sperm-associated auxiliary subunit epsilon isoform 2 precursor

      See identical proteins and their annotated locations for NP_776168.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC099757, AL591594, BC032859, BX648685, DB462258
      Consensus CDS
      CCDS1625.1
      UniProtKB/TrEMBL
      B1AQM6
      Related
      ENSP00000355491.4, ENST00000366533.8
      Conserved Domains (1) summary
      pfam15020
      Location:699 → 816
      CATSPERD; Cation channel sperm-associated protein subunit delta

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      244451242..244640504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544138.3 → XP_011542440.1  cation channel sperm-associated auxiliary subunit epsilon isoform X1

      UniProtKB/TrEMBL
      B1AQM6
      Conserved Domains (1) summary
      pfam15020
      Location:706 → 909
      CATSPERD; Cation channel sperm-associated protein subunit delta

    2. XM_017000947.2 → XP_016856436.1  cation channel sperm-associated auxiliary subunit epsilon isoform X7

      UniProtKB/TrEMBL
      B1AQM6

    3. XM_047417109.1 → XP_047273065.1  cation channel sperm-associated auxiliary subunit epsilon isoform X5

    4. XM_017000951.2 → XP_016856440.1  cation channel sperm-associated auxiliary subunit epsilon isoform X8

    5. XM_017000943.2 → XP_016856432.1  cation channel sperm-associated auxiliary subunit epsilon isoform X4

      UniProtKB/TrEMBL
      B1AQM6

    6. XM_047417117.1 → XP_047273073.1  cation channel sperm-associated auxiliary subunit epsilon isoform X8

    7. XM_047417127.1 → XP_047273083.1  cation channel sperm-associated auxiliary subunit epsilon isoform X12

    8. XM_017000952.2 → XP_016856441.1  cation channel sperm-associated auxiliary subunit epsilon isoform X10

    9. XM_017000953.2 → XP_016856442.1  cation channel sperm-associated auxiliary subunit epsilon isoform X11

    10. XM_011544142.4 → XP_011542444.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

      See identical proteins and their annotated locations for XP_011542444.1

      UniProtKB/TrEMBL
      B1AQM6
      Conserved Domains (1) summary
      pfam15020
      Location:548 → 751
      CATSPERD; Cation channel sperm-associated protein subunit delta

    11. XM_017000946.3 → XP_016856435.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

      UniProtKB/TrEMBL
      B1AQM6
      Conserved Domains (1) summary
      pfam15020
      Location:548 → 751
      CATSPERD; Cation channel sperm-associated protein subunit delta

    12. XM_017000945.3 → XP_016856434.1  cation channel sperm-associated auxiliary subunit epsilon isoform X6

      UniProtKB/TrEMBL
      B1AQM6
      Related
      ENSP00000395796.1, ENST00000428042.1

    13. XM_011544139.3 → XP_011542441.2  cation channel sperm-associated auxiliary subunit epsilon isoform X2

    14. XM_047417129.1 → XP_047273085.1  cation channel sperm-associated auxiliary subunit epsilon isoform X13

    15. XM_024446278.2 → XP_024302046.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

      UniProtKB/TrEMBL
      B1AQM6
      Conserved Domains (1) summary
      pfam15020
      Location:548 → 751
      CATSPERD; Cation channel sperm-associated protein subunit delta

    16. XM_047417115.1 → XP_047273071.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

    17. XM_047417123.1 → XP_047273079.1  cation channel sperm-associated auxiliary subunit epsilon isoform X9

    RNA

    1. XR_001737095.2 RNA Sequence

    2. XR_001737096.2 RNA Sequence

    3. XR_001737099.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      243867529..244056769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335814.1 → XP_054191789.1  cation channel sperm-associated auxiliary subunit epsilon isoform X1

    2. XM_054335818.1 → XP_054191793.1  cation channel sperm-associated auxiliary subunit epsilon isoform X5

    3. XM_054335822.1 → XP_054191797.1  cation channel sperm-associated auxiliary subunit epsilon isoform X7

    4. XM_054335826.1 → XP_054191801.1  cation channel sperm-associated auxiliary subunit epsilon isoform X8

    5. XM_054335817.1 → XP_054191792.1  cation channel sperm-associated auxiliary subunit epsilon isoform X4

    6. XM_054335825.1 → XP_054191800.1  cation channel sperm-associated auxiliary subunit epsilon isoform X8

    7. XM_054335827.1 → XP_054191802.1  cation channel sperm-associated auxiliary subunit epsilon isoform X8

    8. XM_054335821.1 → XP_054191796.1  cation channel sperm-associated auxiliary subunit epsilon isoform X14

    9. XM_054335831.1 → XP_054191806.1  cation channel sperm-associated auxiliary subunit epsilon isoform X12

    10. XM_054335829.1 → XP_054191804.1  cation channel sperm-associated auxiliary subunit epsilon isoform X10

    11. XM_054335830.1 → XP_054191805.1  cation channel sperm-associated auxiliary subunit epsilon isoform X11

    12. XM_054335816.1 → XP_054191791.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

    13. XM_054335820.1 → XP_054191795.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

    14. XM_054335819.1 → XP_054191794.1  cation channel sperm-associated auxiliary subunit epsilon isoform X6

    15. XM_054335815.1 → XP_054191790.1  cation channel sperm-associated auxiliary subunit epsilon isoform X2

    16. XM_054335832.1 → XP_054191807.1  cation channel sperm-associated auxiliary subunit epsilon isoform X13

    17. XM_054335823.1 → XP_054191798.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

    18. XM_054335824.1 → XP_054191799.1  cation channel sperm-associated auxiliary subunit epsilon isoform X3

    19. XM_054335828.1 → XP_054191803.1  cation channel sperm-associated auxiliary subunit epsilon isoform X9

    RNA

    1. XR_008485984.1 RNA Sequence

    2. XR_008485985.1 RNA Sequence

    3. XR_008485986.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SY80.1 GenPept UniProtKB/Swiss-Prot:Q5SY80

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