ENSG00000147255


Homo sapiens

Features
Gene ID: ENSG00000147255
  
Biological name :IGSF1
  
Synonyms : IGSF1 / immunoglobulin superfamily member 1 / Q8N6C5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q26.2
Gene start: 131273506
Gene end: 131578899
  
Corresponding Affymetrix probe sets: 207695_s_at (Human Genome U133 Plus 2.0 Array)   223807_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359947
Ensembl peptide - ENSP00000355010
Ensembl peptide - ENSP00000359937
Ensembl peptide - ENSP00000359938
Ensembl peptide - ENSP00000359940
Ensembl peptide - ENSP00000359941
NCBI entrez gene - 3547     See in Manteia.
OMIM - 300137
RefSeq - XM_011531334
RefSeq - NM_001170961
RefSeq - NM_001170962
RefSeq - NM_001170963
RefSeq - NM_001555
RefSeq - NM_205833
RefSeq - XM_011531330
RefSeq - XM_011531333
RefSeq Peptide - NP_001546
RefSeq Peptide - NP_991402
RefSeq Peptide - NP_001164432
RefSeq Peptide - NP_001164433
RefSeq Peptide - NP_001164434
swissprot - Q8N6C5
Ensembl - ENSG00000147255
  
Related genetic diseases (OMIM): 300888 - Hypothyroidism, central, and testicular enlargement, 300888
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
 IGSF1L3ENSGALG00000030005Gallus gallus
 Igsf1ENSMUSG00000031111Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A1BG / P04217 / alpha-1-B glycoproteinENSG0000012141010
OSCAR / Q8IYS5 / osteoclast associated, immunoglobulin-like receptorENSG000001709096
TARM1 / B6A8C7 / T cell-interacting, activating receptor on myeloid cells 1ENSG000002483855


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013151  Immunoglobulin
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0007165 signal transduction IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015026 coreceptor activity IEA
 molecular_functionGO:0034711 inhibin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000821 Hypothyroidism 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0025502 Overweight "Increased body weight with a body mass index of 25-29.9 kg per square meter." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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