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

    Gene ID: 54768, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:19368
    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]
    Expression
    Biased expression in testis (RPKM 2.3), lung (RPKM 0.8) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HYDIN in Genome Data Viewer
    Location:
    16q22.2
    Exon count:
    86
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (70802084..71230722, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (76613256..77041852, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70835987..71264625, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene VAC14 component of PIKFYVE complex Neighboring gene tRNA-Gly (anticodon GCC) 2-4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70834747-70835369 Neighboring gene tRNA-Gly (anticodon GCC) 2-5 Neighboring gene RNA, U6atac small nuclear 25, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4373 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71042849-71044048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71061796-71062512 Neighboring gene Sharpr-MPRA regulatory region 1178 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:71113179-71114378 Neighboring gene Sharpr-MPRA regulatory region 1449 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71195224-71195424 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71289688-71289924 Neighboring gene uncharacterized LOC102723786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7676 Neighboring gene uncharacterized LOC102725168 Neighboring gene cap methyltransferase 2

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.
      Title: Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.
    2. Novel HYDIN variants associated with male infertility in two Chinese families.
      Title: Novel HYDIN variants associated with male infertility in two Chinese families.
    3. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
      Title: HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
    4. Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
      Title: Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
    5. 41 of the 189 individuals with primary ciliary dyskinesia and situs inversus had undetectable SPEF2 and were subjected to a genetic analysis, which revealed one novel loss-of-function mutation in SPEF2 and three reported and 13 novel HYDIN mutations in 15 individuals. The remaining 25 individuals are good candidates for new, as-yet uncharacterized PCD variants that affect the CP apparatus.
      Title: SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
    6. A novel homozygous nonsense HYDIN mutation in two siblings with Primary Ciliary Dyskinesia having clinical phenotype of neonatal respiratory distress, early onset persistent wet cough/nasal discharge, and consistently abnormal High speed video microscopy.
      Title: A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.
    7. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4).
      Title: Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).
    8. The results suggest frequent and coordinated adaptive immune responses against HYDIN variants in patients with cancer.
      Title: Alternative variants of human HYDIN are novel cancer-associated antigens recognized by adaptive immunity.
    9. 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.
    10. We have found that the human HYDIN locus has been very recently duplicated, with a nearly identical 360-kb paralogous segment inserted on chromosome 1q21.1
      Title: A 360-kb interchromosomal duplication of the human HYDIN locus.
    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

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 5
    MedGen: C1837615 OMIM: 608647 GeneReviews: Primary Ciliary Dyskinesia
    		not available

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12871, FLJ14665, KIAA1864, DKFZp434D0513, DKFZp434L0850

    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 axonemal central apparatus assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in trachea development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventricular system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axonemal central apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal central pair projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 homolog
    Names
    protein phosphatase 1, regulatory subunit 31

    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.

    Genomic

    1. NG_033116.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001198542.1 → NP_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
      ENSP00000444970.1, ENST00000538248.5
      Conserved Domains (2) summary
      pfam00635
      Location:230 → 296
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:540 → 640
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    2. NM_001198543.1 → NP_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
      ENSP00000437341.1, ENST00000541601.5
      Conserved Domains (2) summary
      pfam00635
      Location:220 → 286
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:530 → 630
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    3. NM_001270974.2 → NP_001257903.1  hydrocephalus-inducing protein homolog isoform a

      See identical proteins and their annotated locations for NP_001257903.1

      Status: REVIEWED

      Source sequence(s)
      AC027281, AC099495, AC138625
      Consensus CDS
      CCDS59269.1
      UniProtKB/Swiss-Prot
      A6NC70, A6NLZ0, B4DQY4, B4DRN4, F5H6V3, Q4G0P3, Q8N3H8, Q8N3P6, Q8TC08, Q96JG3, Q96SS4, Q9H5U3, Q9H9B8, Q9NTI0, Q9UBE5
      Related
      ENSP00000377197.2, ENST00000393567.7
      Conserved Domains (4) summary
      pfam00635
      Location:203 → 269
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam13863
      Location:2258 → 2365
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:2275 → 2421
      ARGLU; Arginine and glutamate-rich 1
      pfam15780
      Location:513 → 613
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    4. NM_017558.5 → NP_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)
      AC138625, AK022933, AK299016, AK299348, AL122038, DA758908
      Consensus CDS
      CCDS10897.1
      UniProtKB/Swiss-Prot
      Q4G0P3
      Related
      ENSP00000314736.5, ENST00000321489.9
      Conserved Domains (2) summary
      pfam00635
      Location:203 → 269
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam15780
      Location:513 → 613
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171813.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      76613256..77041852 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4G0P3.3 GenPept UniProtKB/Swiss-Prot:Q4G0P3

    Gene LinkOut

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

    Chemical Information
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