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Protein Ontology report - tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L
PR:000000278 - http://purl.obolibrary.org/obo/PR_000000278
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000000278   
  PRO nametumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L 
  Synonyms
PRO-Short-label: EXACT:FASLG/iso:FasL/var:F273L
Other: EXACT:tumor necrosis factor ligand superfamily member 6 isoform 1 sequence variant 1 | tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant 1
RELATED:gld
  Definition"A tumor necrosis factor ligand superfamily member 6 isoform FasL that has a Leu residue at the position equivalent to Phe-273 of the amino acid sequence represented by UniProtKB:P41047-1. Example: UniProtKB:P41047-1, Phe-273, CHEBI:30006." [PMID:7495745, PRO:CNA, PRO:DAN] 
  CommentNote: This variation leads to an immune system phenotype with enlarged lymph nodes (MP:0000702) and increased lymphocyte cell number (MP:0005013). 
  PRO Categorysequence 
  ParentPR:000000276 tumor necrosis factor ligand superfamily member 6 isoform FasL
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence1                                                  Organism-Sequence 2                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Ann. Has Annotation?

Comp. In Complex?
sequence


PR:000000278 tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L, FASLG/iso:FasL/var:F273L

organism-sequence


PR:000036782 tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L (human), hFASLG/iso:FasL/var:F273L
Yes
organism-sequence


PR:000036783 tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L (mouse), mFASLG/iso:FasL/var:F273L
Yes
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000036782 hFASLG/iso:FasL/var:F273L
UniProtKB:P48023-1, Phe-275, CHEBI:30006 | FASLG isoform 1 sequence variant 1 (human) | FASLG isoform FasL sequence variant 1 (human) | tumor necrosis factor ligand superfamily member 6 isoform 1 sequence variant 1 (human) | tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant 1 (human) | gld
"A tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L that is encoded in the genome of human. The variation occurs at the position equivalent to Phe-275 of the amino acid sequence represented by UniProtKB:P48023-1. UniProtKB:P48023-1, Phe-275, CHEBI:30006." [PRO:DAN]		 enablesaltered GO:0005102 signaling receptor binding with PR:P25445 apo-1 antigen (human) PMID:9405425
GO:0042802 identical protein binding PMID:9405425
located_inGO:0009986 cell surface PMID:9405425
PR:000036783 mFASLG/iso:FasL/var:F273L
UniProtKB:P41047-1, Phe-273, CHEBI:30006 | Faslg isoform 1 sequence variant 1 (mouse) | Faslg isoform FasL sequence variant 1 (mouse) | tumor necrosis factor ligand superfamily member 6 isoform 1 sequence variant 1 (mouse) | tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant 1 (mouse) | gld
"A tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L that is encoded in the genome of mouse. The variation occurs at the position equivalent to Phe-273 of the amino acid sequence represented by UniProtKB:P41047-1. UniProtKB:P41047-1, Phe-273, CHEBI:30006." [PMID:7495745, PRO:DAN]		 associated_with_disease_progressionDO:6688 autoimmune lymphoproliferative syndrome PMID:7495745
located_inGO:0005886 plasma membrane PMID:7495745