ENSG00000160188


Homo sapiens

Features
Gene ID: ENSG00000160188
  
Biological name :RSPH1
  
Synonyms : Q8WYR4 / radial spoke head 1 homolog / RSPH1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.3
Gene start: 42472486
Gene end: 42496354
  
Corresponding Affymetrix probe sets: 230093_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000291536
Ensembl peptide - ENSP00000381395
NCBI entrez gene - 89765     See in Manteia.
OMIM - 609314
RefSeq - XM_011529786
RefSeq - NM_001286506
RefSeq - NM_080860
RefSeq - XM_005261208
RefSeq Peptide - NP_001273435
RefSeq Peptide - NP_543136
swissprot - Q8WYR4
Ensembl - ENSG00000160188
  
Related genetic diseases (OMIM): 615481 - Ciliary dyskinesia, primary, 24, 615481
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CT573248.2ENSDARG00000102261Danio rerio
 RSPH1ENSGALG00000043976Gallus gallus
 Rsph1ENSMUSG00000024033Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
B2RC85 / RSPH10B2 / radial spoke head 10 homolog B2ENSG0000016940225
P0C881 / RSPH10B / radial spoke head 10 homolog BENSG0000015502625
MORN1 / Q5T089 / MORN repeat containing 1ENSG0000011615122
ALS2 / Q96Q42 / ALS2, alsin Rho guanine nucleotide exchange factorENSG0000000339322
ALS2CL / Q60I27 / ALS2 C-terminal likeENSG0000017803822
MORN3 / Q6PF18 / MORN repeat containing 3ENSG0000013971421


Protein motifs (from Interpro)
Interpro ID Name
 IPR003409  MORN motif


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007286 spermatid development IEA
 biological_processGO:0035082 axoneme assembly IMP
 biological_processGO:0051321 meiotic cell cycle IEA
 cellular_componentGO:0000794 condensed nuclear chromosome IEA
 cellular_componentGO:0001520 outer dense fiber IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol HDA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0031514 motile cilium IDA
 cellular_componentGO:0036126 sperm flagellum IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0072687 meiotic spindle IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000789 Infertility 
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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 HP:0012384 Rhinitis "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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