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

Gene ID: 257062, updated on 3-Apr-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 sperm principal piece. Predicted to be part of CatSper complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 5.1) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5720637..5778734)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5707310..5765529)
105.20220307 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)

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

  • 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_2023_10

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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