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    CATSPERD cation channel sperm associated auxiliary subunit delta [ Homo sapiens (human) ]

    Gene ID: 257062, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CATSPERDprovided by HGNC
    Official Full Name
    cation channel sperm associated auxiliary subunit deltaprovided by HGNC
    Primary source
    HGNC:HGNC:28598
    See related
    Ensembl:ENSG00000174898 MIM:617490; AllianceGenome:HGNC:28598
    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
    TMEM146
    Summary
    Predicted to be involved in flagellated sperm motility and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in sperm principal piece. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 5.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CATSPERD in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5720637..5778734)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5707310..5765529)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5720648..5778745)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9927 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9929 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:5687727-5688226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690083-5690608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690609-5691134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5691135-5691660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13814 Neighboring gene ribosomal protein L36 Neighboring gene lon peptidase 1, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5717772-5718288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5718289-5718804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9931 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5719838-5720354 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:5780743-5780921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13816 Neighboring gene proline rich 22 Neighboring gene dihydrouridine synthase 3 like

    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. A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa. Chung JJ, et al. Nat Commun, 2011 Jan 11. PMID 21224844, Free PMC Article
    2. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    3. 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
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) 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

    • MGC39581

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm capacitation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in sperm principal piece IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm principal piece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cation channel sperm-associated auxiliary subunit delta
    Names
    catSper-delta
    catSperdelta
    cation channel sperm-associated protein subunit delta
    catsper channel auxiliary subunit delta
    transmembrane protein 146

    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_152784.4 → NP_689997.3  cation channel sperm-associated auxiliary subunit delta precursor

      See identical proteins and their annotated locations for NP_689997.3

      Status: VALIDATED

      Source sequence(s)
      AC011499, AK128088, BC043005
      Consensus CDS
      CCDS12149.2
      UniProtKB/Swiss-Prot
      Q6ZRP1, Q86XM0
      Related
      ENSP00000371037.3, ENST00000381624.4
      Conserved Domains (1) summary
      pfam15020
      Location:41 → 766
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      5720637..5778734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527885.4 → XP_011526187.1  cation channel sperm-associated auxiliary subunit delta isoform X1

      Conserved Domains (1) summary
      pfam15020
      Location:41 → 832
      CATSPERD; Cation channel sperm-associated protein subunit delta

    2. XM_011527887.4 → XP_011526189.1  cation channel sperm-associated auxiliary subunit delta isoform X4

      Conserved Domains (1) summary
      pfam15020
      Location:41 → 789
      CATSPERD; Cation channel sperm-associated protein subunit delta

    3. XM_047438564.1 → XP_047294520.1  cation channel sperm-associated auxiliary subunit delta isoform X6

    4. XM_011527886.4 → XP_011526188.1  cation channel sperm-associated auxiliary subunit delta isoform X2

      Conserved Domains (1) summary
      pfam15020
      Location:41 → 814
      CATSPERD; Cation channel sperm-associated protein subunit delta

    5. XM_017026564.3 → XP_016882053.1  cation channel sperm-associated auxiliary subunit delta isoform X3

    6. XM_017026566.3 → XP_016882055.1  cation channel sperm-associated auxiliary subunit delta isoform X7

    7. XM_017026565.2 → XP_016882054.1  cation channel sperm-associated auxiliary subunit delta isoform X5

    8. XM_011527889.4 → XP_011526191.1  cation channel sperm-associated auxiliary subunit delta isoform X9

      Conserved Domains (1) summary
      pfam15020
      Location:41 → 588
      CATSPERD; Cation channel sperm-associated protein subunit delta

    9. XM_011527890.4 → XP_011526192.1  cation channel sperm-associated auxiliary subunit delta isoform X10

      Conserved Domains (1) summary
      pfam15020
      Location:41 → 545
      CATSPERD; Cation channel sperm-associated protein subunit delta

    10. XM_011527888.4 → XP_011526190.1  cation channel sperm-associated auxiliary subunit delta isoform X8

      Conserved Domains (1) summary
      pfam15020
      Location:41 → 647
      CATSPERD; Cation channel sperm-associated protein subunit delta

    11. XM_011527891.1 → XP_011526193.1  cation channel sperm-associated auxiliary subunit delta isoform X11

      Conserved Domains (1) summary
      pfam15020
      Location:1 → 490
      CATSPERD; Cation channel sperm-associated protein subunit delta

    12. XM_011527892.1 → XP_011526194.1  cation channel sperm-associated auxiliary subunit delta isoform X12

      UniProtKB/TrEMBL
      Q8NEF4
      Conserved Domains (1) summary
      pfam15020
      Location:1 → 433
      CATSPERD; Cation channel sperm-associated protein subunit delta

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      5707310..5765529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320457.1 → XP_054176432.1  cation channel sperm-associated auxiliary subunit delta isoform X1

    2. XM_054320460.1 → XP_054176435.1  cation channel sperm-associated auxiliary subunit delta isoform X4

    3. XM_054320462.1 → XP_054176437.1  cation channel sperm-associated auxiliary subunit delta isoform X6

    4. XM_054320458.1 → XP_054176433.1  cation channel sperm-associated auxiliary subunit delta isoform X2

    5. XM_054320459.1 → XP_054176434.1  cation channel sperm-associated auxiliary subunit delta isoform X3

    6. XM_054320463.1 → XP_054176438.1  cation channel sperm-associated auxiliary subunit delta isoform X7

    7. XM_054320461.1 → XP_054176436.1  cation channel sperm-associated auxiliary subunit delta isoform X5

    8. XM_054320465.1 → XP_054176440.1  cation channel sperm-associated auxiliary subunit delta isoform X9

    9. XM_054320466.1 → XP_054176441.1  cation channel sperm-associated auxiliary subunit delta isoform X10

    10. XM_054320464.1 → XP_054176439.1  cation channel sperm-associated auxiliary subunit delta isoform X8

    11. XM_054320467.1 → XP_054176442.1  cation channel sperm-associated auxiliary subunit delta isoform X11

    12. XM_054320468.1 → XP_054176443.1  cation channel sperm-associated auxiliary subunit delta isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XM0.3 GenPept UniProtKB/Swiss-Prot:Q86XM0

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