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Aliases for HYDIN Gene

Aliases for HYDIN Gene

  • HYDIN, Axonemal Central Pair Apparatus Protein 2 3
  • HYDIN1 3 4 6
  • CILD5 3 6
  • Protein Phosphatase 1, Regulatory Subunit 31 3
  • Hydrocephalus Inducing Homolog (Mouse) 2
  • Hydrocephalus-Inducing Protein Homolog 3
  • Hydrocephalus Inducing 2
  • Protein Phosphatase 1 2
  • Regulatory Subunit 31 2
  • KIAA1864 4
  • PPP1R31 3
  • HYDIN2 3

External Ids for HYDIN Gene

Summaries for HYDIN Gene

Entrez Gene Summary for HYDIN Gene

  • This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]

GeneCards Summary for HYDIN Gene

HYDIN (HYDIN, Axonemal Central Pair Apparatus Protein) is a Protein Coding gene. Diseases associated with HYDIN include ciliary dyskinesia, primary, 5 and primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia.

UniProtKB/Swiss-Prot for HYDIN Gene

  • Required for ciliary motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYDIN Gene

Genomics for HYDIN Gene

Genomic Location for HYDIN Gene

Start:
70,807,378 bp from pter
End:
71,230,722 bp from pter
Size:
423,345 bases
Orientation:
Minus strand

Genomic View for HYDIN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HYDIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYDIN Gene

Regulatory Elements for HYDIN Gene

Proteins for HYDIN Gene

  • Protein details for HYDIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0P3-HYDIN_HUMAN
    Recommended name:
    Hydrocephalus-inducing protein homolog
    Protein Accession:
    Q4G0P3
    Secondary Accessions:
    • A6NC70
    • A6NLZ0
    • B4DQY4
    • B4DRN4
    • F5H6V3
    • Q8N3H8
    • Q8N3P6
    • Q8TC08
    • Q96JG3
    • Q96SS4
    • Q9H5U3
    • Q9H9B8
    • Q9NTI0
    • Q9UBE5

    Protein attributes for HYDIN Gene

    Size:
    5121 amino acids
    Molecular mass:
    575892 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH28351.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15527.1; Type=Frameshift; Positions=4804; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HYDIN Gene

    Alternative splice isoforms for HYDIN Gene

neXtProt entry for HYDIN Gene

Proteomics data for HYDIN Gene at MOPED

Post-translational modifications for HYDIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HYDIN Gene

Domains for HYDIN Gene

Gene Families for HYDIN Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

Protein Domains for HYDIN Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with HYDIN: view

No data available for UniProtKB/Swiss-Prot for HYDIN Gene

Function for HYDIN Gene

Molecular function for HYDIN Gene

UniProtKB/Swiss-Prot Function: Required for ciliary motility.

Gene Ontology (GO) - Molecular Function for HYDIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
genes like me logo Genes that share ontologies with HYDIN: view
genes like me logo Genes that share phenotypes with HYDIN: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HYDIN Gene

Localization for HYDIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYDIN Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HYDIN Gene COMPARTMENTS Subcellular localization image for HYDIN gene
Compartment Confidence
cytoskeleton 1
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HYDIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0042995 cell projection --
genes like me logo Genes that share ontologies with HYDIN: view

Pathways for HYDIN Gene

SuperPathways for HYDIN Gene

No Data Available

Interacting Proteins for HYDIN Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000314736%0d%0a9606.ENSP00000326031%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000314736 for HYDIN Gene via STRING

Gene Ontology (GO) - Biological Process for HYDIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002064 epithelial cell development IEA --
GO:0003341 cilium movement IEA --
GO:0007275 multicellular organismal development --
GO:0021591 ventricular system development IEA --
GO:0042384 cilium assembly IEA --
genes like me logo Genes that share ontologies with HYDIN: view

No data available for Pathways by source for HYDIN Gene

Transcripts for HYDIN Gene

Alternative Splicing Database (ASD) splice patterns (SP) for HYDIN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^
SP1: - - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26
SP1: - -
SP2:
SP3: - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:

Relevant External Links for HYDIN Gene

GeneLoc Exon Structure for
HYDIN
ECgene alternative splicing isoforms for
HYDIN

Expression for HYDIN Gene

mRNA expression in normal human tissues for HYDIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYDIN Gene

This gene is overexpressed in Testis (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HYDIN Gene

SOURCE GeneReport for Unigene cluster for HYDIN Gene Hs.461229

genes like me logo Genes that share expressions with HYDIN: view

Orthologs for HYDIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for HYDIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 37
  • 99 (a)
ManyToMany
-- 37
  • 99 (a)
ManyToMany
HYDIN 36
  • 99.32 (n)
  • 99 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 80 (a)
OneToMany
HYDIN 36
  • 84.39 (n)
  • 80.19 (a)
dog
(Canis familiaris)
Mammalia -- 37
  • 82 (a)
OneToMany
HYDIN 36
  • 85.07 (n)
  • 82.26 (a)
mouse
(Mus musculus)
Mammalia Hydin 36
  • 80.78 (n)
  • 78.05 (a)
Hydin 16
Hydin 37
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 64 (a)
ManyToMany
-- 37
  • 56 (a)
ManyToMany
-- 37
  • 60 (a)
ManyToMany
-- 37
  • 63 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 79 (a)
ManyToMany
-- 37
  • 67 (a)
ManyToMany
-- 37
  • 60 (a)
ManyToMany
-- 37
  • 66 (a)
ManyToMany
-- 37
  • 44 (a)
ManyToMany
-- 37
  • 62 (a)
ManyToMany
-- 37
  • 69 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hydin 36
  • 80.95 (n)
  • 78.21 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 51 (a)
OneToMany
HYDIN 36
  • 61.61 (n)
  • 53.63 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hydin 36
  • 58.62 (n)
  • 53.5 (a)
zebrafish
(Danio rerio)
Actinopterygii hydin 36
  • 54.69 (n)
  • 45.89 (a)
hydin 37
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToMany
Species with no ortholog for HYDIN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HYDIN Gene

ENSEMBL:
Gene Tree for HYDIN (if available)
TreeFam:
Gene Tree for HYDIN (if available)

Paralogs for HYDIN Gene

Pseudogenes.org Pseudogenes for HYDIN Gene

genes like me logo Genes that share paralogs with HYDIN: view

No data available for Paralogs for HYDIN Gene

Variants for HYDIN Gene

Sequence variations from dbSNP and Humsavar for HYDIN Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs171012 -- 71,201,828(-) GATGA(C/T)ACTTG intron-variant
rs171013 -- 71,215,117(-) ccctg(C/T)aagtt intron-variant
rs171014 -- 71,212,397(-) AGTCA(A/T)TCCTT intron-variant
rs173127 -- 71,232,232(-) TACAG(C/T)AGtag upstream-variant-2KB
rs195612 -- 71,017,870(+) CAAAA(A/T)TAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HYDIN Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
dgv897e1 CNV Complex 17122850
esv2446050 CNV Gain 19546169
nsv819929 CNV Insertion 19587683
esv27528 CNV Gain+Loss 19812545
nsv513453 CNV Insertion 21212237
nsv103278 CNV Loss 16902084
nsv817736 CNV Gain 17921354
esv2714674 CNV Deletion 23290073
nsv906891 CNV Gain 21882294
nsv103320 CNV Loss 16902084
nsv1857 CNV Loss 18451855
nsv511573 CNV Loss 21212237
esv2714675 CNV Deletion 23290073
esv1000229 CNV Deletion 20482838
esv2190080 CNV Deletion 18987734
nsv512443 CNV Loss 21212237
esv2714676 CNV Deletion 23290073
esv8826 CNV Loss 19470904
nsv103129 CNV Loss 16902084
nsv514811 CNV Gain 21397061
esv1004290 CNV Insertion 20482838
esv8659 CNV Gain 19470904
nsv1858 CNV Insertion 18451855
esv2603903 CNV Deletion 19546169
esv2714677 CNV Deletion 23290073
esv993690 CNV Insertion 20482838
esv268722 CNV Insertion 20981092
esv273207 CNV Insertion 20981092
esv2628681 CNV Insertion 19546169
esv269921 CNV Insertion 20981092
esv273571 CNV Insertion 20981092
esv270588 CNV Insertion 20981092
esv272779 CNV Insertion 20981092
esv9491 OTHER Inversion 19470904
esv268326 CNV Insertion 20981092
esv2539613 CNV Deletion 19546169
esv2714678 CNV Deletion 23290073
esv2325464 CNV Deletion 18987734
esv1000045 CNV Deletion 20482838
esv2714679 CNV Deletion 23290073
esv9448 CNV Loss 19470904
nsv1859 CNV Loss 18451855
esv1740201 CNV Insertion 17803354

Relevant External Links for HYDIN Gene

HapMap Linkage Disequilibrium report
HYDIN
Human Gene Mutation Database (HGMD)
HYDIN

Disorders for HYDIN Gene

(1) OMIM Diseases for HYDIN Gene (610812)

UniProtKB/Swiss-Prot

HYDIN_HUMAN
  • Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. {ECO:0000269 PubMed:23022101, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for HYDIN Gene

(1) Novoseek inferred disease relationships for HYDIN Gene

Disease -log(P) Hits PubMed IDs
hydrocephalus 68.3 4

Relevant External Links for HYDIN

Genetic Association Database (GAD)
HYDIN
Human Genome Epidemiology (HuGE) Navigator
HYDIN
genes like me logo Genes that share disorders with HYDIN: view

Publications for HYDIN Gene

  1. A 360-kb interchromosomal duplication of the human HYDIN locus. (PMID: 16938426) Doggett N.A. … Han C. (Genomics 2006) 3 4 23
  2. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. (PMID: 23022101) Olbrich H. … Omran H. (Am. J. Hum. Genet. 2012) 2 3 4
  3. Hydin seek: finding a function in ciliary motility. (PMID: 17296793) Smith E.F. (J. Cell Biol. 2007) 4 23
  4. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. (PMID: 12719380) Davy B.E. … Robinson M.L. (Hum. Mol. Genet. 2003) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for HYDIN Gene

Sources for HYDIN Gene

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