[Term]
id: PR:000046462
name: Bardet-Biedl syndrome 1 protein, initiator methionine removed form (human)
def: "A Bardet-Biedl syndrome 1 protein (human) that has had the initiator methionine removed. UniProtKB:Q8NFJ9, 2-593." [PRO:DNx, Reactome:R-HSA-5617640]
comment: Category=organism-modification.
synonym: "PRO_0000064841" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hBBS1/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q8NFJ9, 2-593" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5617640 "PR:000046462 located_in GO:0005829"
intersection_of: lacks_part PR:000021937 ! initiator methionine
intersection_of: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q8NFJ9-3
name: Bardet-Biedl syndrome 1 protein isoform h2 (human)
def: "A Bardet-Biedl syndrome 1 protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NFJ9-3." [PRO:DNx, UniProtKB:Q8NFJ9]
comment: Category=organism-sequence.
synonym: "hBBS1/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q8NFJ9-3
is_a: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q8NFJ9
name: Bardet-Biedl syndrome 1 protein (human)
def: "A Bardet-Biedl syndrome 1 protein that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q8NFJ9]
comment: Category=organism-gene.
synonym: "BBS1" RELATED Gene-based [UniProtKB:Q8NFJ9]
synonym: "hBBS1" EXACT PRO-short-label [PRO:DNx]
synonym: "BBS2L2" RELATED Gene-based [UniProtKB:Q8NFJ9]
synonym: "BBS2-like protein 2 (human)" EXACT [UniProtKB:Q8NFJ9]
xref: UniProtKB:Q8NFJ9
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000004663 ! Bardet-Biedl syndrome 1 protein
relationship: has_gene_template HGNC:966 ! BBS1 (human)

[Term]
id: PR:Q8NFJ9-1
name: Bardet-Biedl syndrome 1 protein isoform h1 (human)
def: "A Bardet-Biedl syndrome 1 protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NFJ9-1." [PRO:DNx, UniProtKB:Q8NFJ9]
comment: Category=organism-sequence.
synonym: "hBBS1/iso:h1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q8NFJ9-1
is_a: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q8NFJ9-2
name: DPP3-BBS1 readthrough protein (human)
def: "A Bardet-Biedl syndrome 1 protein (human) that is a translation product of some readthrough mRNA between the human DPP3 and BBS1 genes, giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NFJ9-2." [PRO:DAN, UniProtKB:Q8NFJ9]
comment: Category=organism-sequence.
synonym: "hBBS1/iso:DPP3-BBS1" EXACT PRO-short-label [PRO:DNx]
synonym: "Bardet-Biedl syndrome 1 protein isoform DPP3-BBS1 (human)" EXACT [UniProtKB:Q8NFJ9]
xref: UniProtKB:Q8NFJ9-2
is_a: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000004663
name: Bardet-Biedl syndrome 1 protein
def: "A protein that is a translation product of the human BBS1 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "BBS1" EXACT PRO-short-label [PRO:DNx]
synonym: "BBS2L2" RELATED Gene-based []
synonym: "BBS2-like protein 2" EXACT []
is_a: PR:000000001 ! protein