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

Gene ID: 54768, updated on 4-Oct-2020

Summary

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
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

Genomic context

See HYDIN in Genome Data Viewer
Location:
16q22.2
Exon count:
92
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 component of PIKFYVE complex Neighboring gene tRNA-Gly (anticodon GCC) 5-1 Neighboring gene tRNA-Gly (anticodon GCC) 2-5 Neighboring gene RNA, U6atac small nuclear 25, pseudogene Neighboring gene uncharacterized LOC102723786 Neighboring gene uncharacterized LOC102725168 Neighboring gene cap methyltransferase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Ciliary dyskinesia, primary, 5
MedGen: C1837615 OMIM: 608647 GeneReviews: Primary Ciliary Dyskinesia
Compare labs
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

Preferred Names
hydrocephalus-inducing protein homolog
Names
protein phosphatase 1, regulatory subunit 31

NCBI Reference Sequences (RefSeq)

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
    ENSP00000444970.1, ENST00000538248.5
    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
    ENSP00000437341.1, ENST00000541601.5
    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

    Source sequence(s)
    AC027281, AC099495, AC138625
    Consensus CDS
    CCDS59269.1
    UniProtKB/Swiss-Prot
    Q4G0P3
    Related
    ENSP00000377197.2, ENST00000393567.7
    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_017558.5NP_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: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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 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_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
  3. 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
  4. XM_017023347.1XP_016878836.1  hydrocephalus-inducing protein homolog isoform X7

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

  6. 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
  7. XM_011523155.2XP_011521457.1  hydrocephalus-inducing protein homolog isoform X9

    Conserved Domains (1) summary
    pfam14874
    Location:562636
    PapD-like; Flagellar-associated PapD-like
  8. XM_011523151.2XP_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
  9. XM_006721206.3XP_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
  10. XM_017023346.2XP_016878835.1  hydrocephalus-inducing protein homolog isoform X3

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_013171813.1 Reference GRCh38.p13 PATCHES

    Range
    1..93427 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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