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

Gene ID: 244653, updated on 26-Sep-2022

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, Apr 2022]
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
109 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 cap methyltransferase 2 Neighboring gene predicted gene, 39249 Neighboring gene predicted gene, 26832 Neighboring gene predicted gene, 23627 Neighboring gene predicted gene, 35676 Neighboring gene predicted gene, 21283 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. 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
  2. Precise genetic mapping and integrative bioinformatics in Diversity Outbred mice reveals Hydin as a novel pain gene. Recla JM, et al. Mamm Genome, 2014 Jun. PMID 24700285, Free PMC Article
  3. 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
  4. 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
  5. Neural precursors express multiple chondroitin sulfate proteoglycans, including the lectican family. Kabos P, et al. Biochem Biophys Res Commun, 2004 Jun 11. PMID 15147965

See all (27) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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)
  • Spontaneous (2) 
  • Transgenic (1)  1 citation
  • Endonuclease-mediated (2) 

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
 PubMed 
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
 PubMed 
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
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
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
    Q80W93, 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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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 info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80W93.2 GenPept UniProtKB/Swiss-Prot:Q80W93

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