2. Gene
  3. HYDIN - HYDIN axonemal central pair apparatus protein Gene

HYDIN - HYDIN axonemal central pair apparatus protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CILD5; HYDIN1; HYDIN2; PPP1R31

Gene ID: 54768 | Gene type: protein coding

About HYDIN

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:70,802,084-71,230,722 (from NCBI)

This gene has 23 transcripts (splice variants), 1 gene allele, 128 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 2.3), lung (RPKM 0.8) and 8 other tissues.

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]

HYDIN Products(4)

mRNA Protein Name
NM_001198542.1 NP_001185471.1 hydrocephalus-inducing protein homolog isoform c
NM_001198543.1 NP_001185472.1 hydrocephalus-inducing protein homolog isoform d
NM_001270974.2 NP_001257903.1 hydrocephalus-inducing protein homolog isoform a
NM_017558.5 NP_060028.2 hydrocephalus-inducing protein homolog isoform b
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HYDIN Protein Structure

PapD-like

PapD-like: Flagellar-associated PapD-like (695 - 783)

PapD-like

PapD-like: Flagellar-associated PapD-like (803 - 862)

PapD-like

PapD-like: Flagellar-associated PapD-like (2932 - 3007)

PapD-like

PapD-like: Flagellar-associated PapD-like (4528 - 4600)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4800
  • 5121 a.a.
Protein Preferred Names Protein Names

hydrocephalus-inducing protein homolog

protein phosphatase 1, regulatory subunit 31

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos
Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type
Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
Kartagener Syndrome

Kartagener'S Syndrome
Chromosome 1q21.1 Duplication Syndrome

1q21.1 Microduplication Syndrome

Trisomy 1q21.1

1q21.1 Duplication Syndrome

1q21.1 Microduplication

1q21.1 Duplication

Dup(1)(Q21.1)
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11

Mddga11

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy
Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06499 HYDIN Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus HYDIN MGD MGI:2389007
Bos taurus HYDIN VGNC VGNC:30012
Rattus norvegicus HYDIN RGD RGD:1562254
Canis familiaris HYDIN VGNC VGNC:53416
Macaca mulatta HYDIN VGNC VGNC:99515