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    Hydin HYDIN, axonemal central pair apparatus protein [ Mus musculus (house mouse) ]

    Gene ID: 244653, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hydinprovided by MGI
    Official Full Name
    HYDIN, axonemal central pair apparatus proteinprovided by MGI
    Primary source
    MGI:MGI:2389007
    See related
    Ensembl:ENSMUSG00000059854 AllianceGenome:MGI:2389007
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    hy3; hy-3; hyrh; 672398; Gm9558; 4932703P14; A830061H17; 1700034M11Rik; 4930545D19Rik; AC069308.21gm4
    Summary
    Acts upstream of or within several processes, including axonemal central apparatus assembly; trachea development; and ventricular system development. Located in axonemal central pair projection. Is expressed in choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 5. Orthologous to human HYDIN (HYDIN axonemal central pair apparatus protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 10.5), lung adult (RPKM 1.1) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Hydin in Genome Data Viewer
    Location:
    8 D3- E1; 8 57.5 cM
    Exon count:
    89
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (110993600..111336885)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (110266968..110610253)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:112741810-112741919 Neighboring gene STARR-seq mESC enhancer starr_22674 Neighboring gene cap methyltransferase 2 Neighboring gene predicted gene, 39249 Neighboring gene predicted gene, 26832 Neighboring gene STARR-seq mESC enhancer starr_22675 Neighboring gene predicted gene, 23627 Neighboring gene predicted gene, 35676 Neighboring gene STARR-seq mESC enhancer starr_22677 Neighboring gene predicted gene, 21283 Neighboring gene STARR-seq mESC enhancer starr_22680 Neighboring gene STARR-positive B cell enhancer ABC_E5040 Neighboring gene nuclear encoded tRNA glycine 11 (anticodon GCC) Neighboring gene nuclear encoded tRNA glycine 10 (anticodon GCC) Neighboring gene Vac14 homolog (S. cerevisiae)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Genetic mapping of an insertional hydrocephalus-inducing mutation allelic to hy3. Robinson ML, et al. Mamm Genome, 2002 Nov. PMID 12461648
    2. Neural precursors express multiple chondroitin sulfate proteoglycans, including the lectican family. Kabos P, et al. Biochem Biophys Res Commun, 2004 Jun 11. PMID 15147965
    3. Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility. Lechtreck KF, et al. J Cell Biol, 2007 Feb 12. PMID 17296796, Free PMC Article
    4. The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules. Dawe HR, et al. BMC Biol, 2007 Aug 7. PMID 17683645, Free PMC Article
    5. Chimeric analysis with newly established EGFP/DsRed2-tagged ES cells identify HYDIN as essential for spermiogenesis in mice. Oura S, et al. Exp Anim, 2019 Feb 26. PMID 30089752, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HYDIN loss-of-function inhibits GATA4 expression and enhances atrial septal defect risk.
      Title: HYDIN loss-of-function inhibits GATA4 expression and enhances atrial septal defect risk.
    2. It plays a role in sperm motility.
      Title: Chimeric analysis with newly established EGFP/DsRed2-tagged ES cells identify HYDIN as essential for spermiogenesis in mice.
    3. Hydin is identified as a novel pain gene in mouse model.
      Title: Precise genetic mapping and integrative bioinformatics in Diversity Outbred mice reveals Hydin as a novel pain gene.
    4. Hydin is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
      Title: Tissue expression patterns identify mouse cilia genes.
    5. We conclude that hydrocephalus in hydin mutants is caused by a central pair defect impairing ciliary motility and fluid transport in the brain.
      Title: Mutations in Hydin impair ciliary motility in mice.
    6. First demonstration that Chlamydomonas reinhardtii hydin is a central pair (CP) protein required for flagellar motility. Suggests that hydrocephalus caused by mutations in hydin likely involves the malfunctioning of cilia because of a defect in the CP.
      Title: Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility.
    7. data provide the first evidence of Hydin's role within the trypanosome axoneme, and reveal central pair anomalies and thus impairment of ependymal ciliary motility as the likely cause of the hydrocephalus observed in the hy3 mouse
      Title: The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules.
    8. A domain with homology to caldesmon, an actin-binding protein, suggests an interaction with the cytoskeleton.
      Title: Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonemal central apparatus assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within axonemal central apparatus assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within trachea development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axonemal central apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal central pair projection IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    hydrocephalus-inducing protein
    Names
    hydrocephalus 3
    protein Hy-3

    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_172916.2 → NP_766504.3  hydrocephalus-inducing protein

      See identical proteins and their annotated locations for NP_766504.3

      Status: VALIDATED

      Source sequence(s)
      AY173049
      Consensus CDS
      CCDS40476.1
      UniProtKB/Swiss-Prot
      Q3UQ06, Q68ED1, Q80W93, Q8BRL9, Q8CDF4
      Related
      ENSMUSP00000046204.7, ENSMUST00000043141.7
      Conserved Domains (4) summary
      TIGR02794
      Location:2312 → 2464
      tolA_full; TolA protein
      pfam00635
      Location:249 → 314
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:2296 → 2403
      DUF4200; Domain of unknown function (DUF4200)
      pfam15780
      Location:559 → 659
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      110993600..111336885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243552.1 → XP_030099412.1  hydrocephalus-inducing protein isoform X1

      Conserved Domains (5) summary
      PRK00279
      Location:2228 → 2284
      adk; adenylate kinase; Reviewed
      cl27657
      Location:226 → 291
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:538 → 637
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      pfam17213
      Location:2053 → 2254
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:2292 → 2482
      DUF5401; Family of unknown function (DUF5401)

    2. XM_030243556.1 → XP_030099416.1  hydrocephalus-inducing protein isoform X5

      Conserved Domains (5) summary
      PRK00279
      Location:2226 → 2282
      adk; adenylate kinase; Reviewed
      cl27657
      Location:226 → 291
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:538 → 637
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      pfam17213
      Location:2053 → 2252
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:2290 → 2480
      DUF5401; Family of unknown function (DUF5401)

    3. XM_030243554.1 → XP_030099414.1  hydrocephalus-inducing protein isoform X3

      Conserved Domains (5) summary
      PRK00279
      Location:2227 → 2283
      adk; adenylate kinase; Reviewed
      cl27657
      Location:226 → 291
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:538 → 637
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      pfam17213
      Location:2053 → 2253
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:2291 → 2481
      DUF5401; Family of unknown function (DUF5401)

    4. XM_030243553.1 → XP_030099413.1  hydrocephalus-inducing protein isoform X2

      Conserved Domains (5) summary
      PRK00279
      Location:2227 → 2283
      adk; adenylate kinase; Reviewed
      cl27657
      Location:226 → 291
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:538 → 637
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      pfam17213
      Location:2052 → 2253
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:2291 → 2481
      DUF5401; Family of unknown function (DUF5401)

    5. XM_030243555.1 → XP_030099415.1  hydrocephalus-inducing protein isoform X4

      Conserved Domains (5) summary
      PRK00279
      Location:2226 → 2282
      adk; adenylate kinase; Reviewed
      cl27657
      Location:226 → 291
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:538 → 637
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      pfam17213
      Location:2052 → 2252
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:2290 → 2480
      DUF5401; Family of unknown function (DUF5401)

    6. XM_030243557.1 → XP_030099417.1  hydrocephalus-inducing protein isoform X6

      Conserved Domains (5) summary
      PRK00279
      Location:2224 → 2280
      adk; adenylate kinase; Reviewed
      cl27657
      Location:226 → 291
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:538 → 637
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      pfam17213
      Location:2052 → 2250
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:2288 → 2478
      DUF5401; Family of unknown function (DUF5401)

    7. XM_030243560.2 → XP_030099420.1  hydrocephalus-inducing protein isoform X8

      Conserved Domains (3) summary
      PRK00279
      Location:604 → 660
      adk; adenylate kinase; Reviewed
      pfam17213
      Location:429 → 630
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:668 → 858
      DUF5401; Family of unknown function (DUF5401)

    8. XM_030243558.2 → XP_030099418.1  hydrocephalus-inducing protein isoform X7

      Conserved Domains (3) summary
      PRK00279
      Location:657 → 713
      adk; adenylate kinase; Reviewed
      pfam17213
      Location:482 → 683
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:721 → 911
      DUF5401; Family of unknown function (DUF5401)

    9. XM_030243559.2 → XP_030099419.1  hydrocephalus-inducing protein isoform X8

      Conserved Domains (3) summary
      PRK00279
      Location:604 → 660
      adk; adenylate kinase; Reviewed
      pfam17213
      Location:429 → 630
      Hydin_ADK; Hydin Adenylate kinase-like domain
      pfam17380
      Location:668 → 858
      DUF5401; Family of unknown function (DUF5401)

    10. XM_030243561.2 → XP_030099421.1  hydrocephalus-inducing protein isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172915.1: Suppressed sequence

      Description
      NM_172915.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80W93.2 GenPept UniProtKB/Swiss-Prot:Q80W93

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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