ENSG00000104450


Homo sapiens

Features
Gene ID: ENSG00000104450
  
Biological name :SPAG1
  
Synonyms : Q07617 / SPAG1 / sperm associated antigen 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: q22.2
Gene start: 100157906
Gene end: 100259278
  
Corresponding Affymetrix probe sets: 210117_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000251809
Ensembl peptide - ENSP00000373450
Ensembl peptide - ENSP00000427716
Ensembl peptide - ENSP00000428070
NCBI entrez gene - 6674     See in Manteia.
OMIM - 603395
RefSeq - XM_017013755
RefSeq - NM_003114
RefSeq - NM_172218
RefSeq - XM_011517243
RefSeq - XM_011517245
RefSeq - XM_017013754
RefSeq - XM_011517240
RefSeq - XM_011517241
RefSeq - XM_011517242
RefSeq Peptide - NP_757367
RefSeq Peptide - NP_003105
swissprot - Q07617
Ensembl - ENSG00000104450
  
Related genetic diseases (OMIM): 615505 - Ciliary dyskinesia, primary, 28, 615505
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
 F1RBN2ENSDARG00000004017Danio rerio
 SPAG1ENSGALG00000033254Gallus gallus
 Spag1ENSMUSG00000037617Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q15785 / TOMM34 / translocase of outer mitochondrial membrane 34ENSG0000002577216
RPAP3 / Q9H6T3 / RNA polymerase II associated protein 3ENSG0000000517516
O94826 / TOMM70 / translocase of outer mitochondrial membrane 70ENSG0000015417412
Q9H3U1 / UNC45A / unc-45 myosin chaperone AENSG0000014055310
Q8IWX7 / UNC45B / unc-45 myosin chaperone BENSG0000014116110
TTC1 / Q99614 / tetratricopeptide repeat domain 1ENSG000001133129


Protein motifs (from Interpro)
Interpro ID Name
 IPR001440  Tetratricopeptide repeat 1
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR019734  Tetratricopeptide repeat
 IPR025986  RNA-polymerase II-associated protein 3-like, C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007338 single fertilization TAS
 biological_processGO:0070286 axonemal dynein complex assembly ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA


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:0000403 Recurrent otitis media 
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0004469 Chronic bronchitis 
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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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 HP:0200073 Respiratory insufficiency due to defective ciliary clearance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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