[Term]
id: PR:O75665
name: oral-facial-digital syndrome 1 protein (human)
def: "An oral-facial-digital syndrome 1 protein that is encoded in the genome of human." [PRO:DNx, UniProtKB:O75665]
comment: Category=organism-gene.
synonym: "OFD1" RELATED Gene-based [UniProtKB:O75665]
synonym: "hOFD1" EXACT PRO-short-label [PRO:DNx]
synonym: "CXorf5" RELATED Gene-based [UniProtKB:O75665]
synonym: "protein 71-7A (human)" EXACT [UniProtKB:O75665]
xref: Reactome:R-HSA-380318 "PR:O75665 located_in GO:0005829"
xref: UniProtKB:O75665
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000011611 ! oral-facial-digital syndrome 1 protein
relationship: has_gene_template HGNC:2567 ! OFD1 (human)

[Term]
id: PR:000011611
name: oral-facial-digital syndrome 1 protein
def: "A protein that is a translation product of the human OFD1 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "OFD1" EXACT PRO-short-label [PRO:DNx]
synonym: "CXorf5" RELATED Gene-based []
synonym: "protein 71-7A" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:O75665-1
name: oral-facial-digital syndrome 1 protein isoform h1 (human)
def: "An oral-facial-digital 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:O75665-1." [PRO:DNx, UniProtKB:O75665]
comment: Category=organism-sequence.
synonym: "hOFD1/iso:h1" EXACT PRO-short-label [PRO:DNx]
synonym: "oral-facial-digital syndrome 1 protein isoform ODF1a (human)" EXACT [UniProtKB:O75665]
xref: UniProtKB:O75665-1
is_a: PR:O75665 ! oral-facial-digital syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75665-2
name: oral-facial-digital syndrome 1 protein isoform h2 (human)
def: "An oral-facial-digital 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:O75665-2." [PRO:DNx, UniProtKB:O75665]
comment: Category=organism-sequence.
synonym: "hOFD1/iso:h2" EXACT PRO-short-label [PRO:DNx]
synonym: "oral-facial-digital syndrome 1 protein isoform ODF1b (human)" EXACT [UniProtKB:O75665]
xref: UniProtKB:O75665-2
is_a: PR:O75665 ! oral-facial-digital syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75665-3
name: oral-facial-digital syndrome 1 protein isoform h3 (human)
def: "An oral-facial-digital 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:O75665-3." [PRO:DNx, UniProtKB:O75665]
comment: Category=organism-sequence.
synonym: "hOFD1/iso:h3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75665-3
is_a: PR:O75665 ! oral-facial-digital syndrome 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens