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

Gene ID: 257044, updated on 3-Apr-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
Located in sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
1q44
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244451242..244640504)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243867529..244056769)
105.20220307 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)

Genotypes

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_2023_10

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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