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    HYDIN HYDIN, axonemal central pair apparatus protein [ Homo sapiens (human) ]

    Gene ID: 54768, updated on 20-Feb-2017
    Official Symbol
    HYDINprovided by HGNC
    Official Full Name
    HYDIN, axonemal central pair apparatus proteinprovided by HGNC
    Primary source
    HGNC:HGNC:19368
    See related
    Ensembl:ENSG00000157423 MIM:610812; Vega:OTTHUMG00000137584
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CILD5; HYDIN1; HYDIN2; PPP1R31
    Summary
    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]
    Orthologs
    Location:
    16q22.2
    Exon count:
    92
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (70802084..71230722, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70841287..71264625, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Vac14, PIKFYVE complex component Neighboring gene transfer RNA-Gly (GCC) 5-1 Neighboring gene transfer RNA-Gly (GCC) 2-5 Neighboring gene RNA, U6atac small nuclear 25, pseudogene Neighboring gene uncharacterized LOC102723786 Neighboring gene uncharacterized LOC102725168 Neighboring gene cap methyltransferase 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 5
    MedGen: C1837615 OMIM: 608647 GeneReviews: Primary Ciliary Dyskinesia
    Compare labs

    NHGRI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12871, FLJ14665, KIAA1864, DKFZp434D0513, DKFZp434L0850

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axonemal central apparatus assembly IEA
    Inferred from Electronic Annotation
    more info
     
    cilium movement IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    trachea development IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axonemal central pair projection IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    hydrocephalus-inducing protein homolog
    Names
    protein phosphatase 1, regulatory subunit 31

    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.

    Genomic

    1. NG_033116.2 RefSeqGene

      Range
      5001..433639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198542.1NP_001185471.1  hydrocephalus-inducing protein homolog isoform c

      See identical proteins and their annotated locations for NP_001185471.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate upstream start codon, compared to variant 1. This variant also differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (c) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AK057467, AK299016, AK299348, BP228881, DB339472
      Consensus CDS
      CCDS56004.1
      UniProtKB/Swiss-Prot
      Q4G0P3
      Related
      ENSP00000444970, OTTHUMP00000258465, ENST00000538248, OTTHUMT00000398679
      Conserved Domains (2) summary
      pfam00635
      Location:230296
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:540640
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    2. NM_001198543.1NP_001185472.1  hydrocephalus-inducing protein homolog isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate upstream start codon, compared to variant 1. This variant also differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (d) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AK057467, AK299016, AK299348, DB339472
      Consensus CDS
      CCDS56005.1
      UniProtKB/Swiss-Prot
      Q4G0P3
      Related
      ENSP00000437341, OTTHUMP00000258466, ENST00000541601, OTTHUMT00000398681
      Conserved Domains (2) summary
      pfam00635
      Location:220286
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:530630
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    3. NM_001270974.2NP_001257903.1  hydrocephalus-inducing protein homolog isoform a

      See identical proteins and their annotated locations for NP_001257903.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC027281, AC099495, AC138625
      Consensus CDS
      CCDS59269.1
      UniProtKB/Swiss-Prot
      Q4G0P3
      Related
      ENSP00000377197, OTTHUMP00000238203, ENST00000393567, OTTHUMT00000398624
      Conserved Domains (4) summary
      pfam00635
      Location:203269
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:22582365
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:22752421
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:513613
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    4. NM_017558.4NP_060028.2  hydrocephalus-inducing protein homolog isoform b

      See identical proteins and their annotated locations for NP_060028.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK022933, AK299016, AK299348, AL122038, DA758908
      Consensus CDS
      CCDS10897.1
      UniProtKB/Swiss-Prot
      Q4G0P3
      Related
      ENSP00000314736, OTTHUMP00000174909, ENST00000321489, OTTHUMT00000268974
      Conserved Domains (2) summary
      pfam00635
      Location:203269
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:513613
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      70802084..71230722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523146.2XP_011521448.1  hydrocephalus-inducing protein homolog isoform X1

      Conserved Domains (4) summary
      pfam00635
      Location:230296
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:23192426
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:23362482
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:540674
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    2. XM_011523151.1XP_011521453.1  hydrocephalus-inducing protein homolog isoform X5

      Conserved Domains (4) summary
      pfam00635
      Location:230296
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:22852392
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:23022448
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:540640
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    3. XM_006721206.2XP_006721269.1  hydrocephalus-inducing protein homolog isoform X6

      Conserved Domains (4) summary
      pfam00635
      Location:220286
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:22752382
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:22922438
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:530630
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    4. XM_011523147.1XP_011521449.1  hydrocephalus-inducing protein homolog isoform X2

      Conserved Domains (4) summary
      pfam00635
      Location:220286
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:23092416
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:23262472
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:530664
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    5. XM_011523148.1XP_011521450.1  hydrocephalus-inducing protein homolog isoform X4

      See identical proteins and their annotated locations for XP_011521450.1

      Conserved Domains (4) summary
      pfam00635
      Location:203269
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:22922399
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:23092455
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:513647
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
    6. XM_017023346.1XP_016878835.1  hydrocephalus-inducing protein homolog isoform X3

    7. XM_017023347.1XP_016878836.1  hydrocephalus-inducing protein homolog isoform X7

    8. XM_017023348.1XP_016878837.1  hydrocephalus-inducing protein homolog isoform X7

    9. XM_011523152.1XP_011521454.1  hydrocephalus-inducing protein homolog isoform X8

      Conserved Domains (3) summary
      pfam13863
      Location:212319
      DUF4200; Domain of unknown function (DUF4200)
      pfam14874
      Location:886960
      PapD-like; Flagellar-associated PapD-like
      pfam15346
      Location:229375
      ARGLU; Arginine and glutamate-rich 1
    10. XM_011523155.2XP_011521457.1  hydrocephalus-inducing protein homolog isoform X9

      Conserved Domains (1) summary
      pfam14874
      Location:562636
      PapD-like; Flagellar-associated PapD-like

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_013171813.1 Reference GRCh38.p7 PATCHES

      Range
      1..93427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      72243342..72671970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032821.2: Suppressed sequence

      Description
      NM_032821.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein. Splice sites in exons 25 and 26 were based on predictions and are not supported by orthologous transcript data.
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