ENSG00000171772


Homo sapiens

Features
Gene ID: ENSG00000171772
  
Biological name :SYCE1
  
Synonyms : Q8N0S2 / SYCE1 / synaptonemal complex central element protein 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q26.3
Gene start: 133553901
Gene end: 133569835
  
Corresponding Affymetrix probe sets: 1554675_a_at (Human Genome U133 Plus 2.0 Array)   233084_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000341282
Ensembl peptide - ENSP00000411779
Ensembl peptide - ENSP00000357503
Ensembl peptide - ENSP00000303978
NCBI entrez gene - 93426     See in Manteia.
OMIM - 611486
RefSeq - NM_001143763
RefSeq - NM_001143764
RefSeq - NM_130784
RefSeq Peptide - NP_001137236
RefSeq Peptide - NP_570140
RefSeq Peptide - NP_001137235
swissprot - Q8N0S2
swissprot - A0A0A0MT28
swissprot - A0A0B4J1R9
Ensembl - ENSG00000171772
  
Related genetic diseases (OMIM): 616947 - ?Premature ovarian failure 12, 616947
  616950 - ?Spermatogenic failure 15, 616950
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
 Syce1ENSMUSG00000025480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A8MT33 / SYCE1L / synaptonemal complex central element protein 1 likeENSG0000020507841


Protein motifs (from Interpro)
Interpro ID Name
 IPR026676  Synaptonemal complex central element protein 1
 IPR029238  Shadow of prion protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007128 meiotic prophase I IEA
 biological_processGO:0007130 synaptonemal complex assembly IC
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051321 meiotic cell cycle IEA
 biological_processGO:0070193 synaptonemal complex organization IEA
 cellular_componentGO:0000795 synaptonemal complex IEA
 cellular_componentGO:0000801 central element ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0031225 anchored component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Meiotic synapsis


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:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000786 Primary amenorrhea 
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 HP:0000837 Elevated gonadotropins 
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 HP:0007754 Macular dystrophy 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0011962 Obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000150783 TEX12 / Q9BXU0 / testis expressed 12  / complex
 ENSG00000161860 SYCE2 / Q6PIF2 / synaptonemal complex central element protein 2  / complex
 ENSG00000217442 SYCE3 / A1L190 / synaptonemal complex central element protein 3  / complex






 

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