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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 name
tumor 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]
Comment
Note: This variation leads to an immune system phenotype with enlarged lymph nodes (MP:0000702) and increased lymphocyte cell number (MP:0005013).
PRO Category
sequence
Parent
PR: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
Sequence
1
Organism-Sequence
2
Modification
0
Organism-Modification
0
Term Hierarchy
Visualization
DAG:
OLS:
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Protein Forms
Switch to
Compact View
Category
PRO ID
Name
Short Name
Definition
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
"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]
organism-sequence
PR:000036782
tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L (human)
hFASLG/iso:FasL/var:F273L
"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]
Yes
organism-sequence
PR:000036783
tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L (mouse)
mFASLG/iso:FasL/var:F273L
"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]
Yes
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Functional Annotation (GO-centric view)
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PRO Centric View
Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:6688
autoimmune lymphoproliferative syndrome
PR:000036783
mFASLG/iso:FasL/var:F273L
PMID:7495745
Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0005102
signaling receptor binding
PR:000036782
hFASLG/iso:FasL/var:F273L
PMID:9405425
GO:0042802
identical protein binding
PR:000036782
hFASLG/iso:FasL/var:F273L
PMID:9405425
Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0005886
plasma membrane
PR:000036783
mFASLG/iso:FasL/var:F273L
PMID:7495745
GO:0009986
cell surface
PR:000036782
hFASLG/iso:FasL/var:F273L
PMID:9405425
