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

Gene ID: 54768, updated on 3-Nov-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
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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 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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Related articles in PubMed

  1. Novel HYDIN variants associated with male infertility in two Chinese families. Yu H, et al. Front Endocrinol (Lausanne), 2023. PMID 36742411, Free PMC Article
  2. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians. Shapiro AJ, et al. Ann Am Thorac Soc, 2023 Jan. PMID 36112114, Free PMC Article
  3. Alternative variants of human HYDIN are novel cancer-associated antigens recognized by adaptive immunity. Laske K, et al. Cancer Immunol Res, 2013 Sep. PMID 24777681
  4. A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia. Benjamin AT, et al. Indian J Pediatr, 2019 Jul. PMID 31089940
  5. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Olbrich H, et al. Am J Hum Genet, 2012 Oct 5. PMID 23022101, Free PMC Article

See all (37) citations in PubMed

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
Compare labs

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

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