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MGP Database

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MGP000862

UniProt Annotations

Entry Information

Gene Name	diphthamide biosynthesis 1
Protein Entry	DPH1_HUMAN
UniProt ID	Q9BZG8
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BZG8-1; Sequence=Displayed; Name=2; IsoId=Q9BZG8-2; Sequence=VSP_028852; Name=3; IsoId=Q9BZG8-3; Sequence=VSP_028851;
Caution	It is uncertain whether Met-1 or Met-6 is the initiator. {ECO:0000305}.
Function	Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity). {ECO:0000250}.
Pathway	Protein modification; peptidyl-diphthamide biosynthesis.
Similarity	Belongs to the DPH1/DPH2 family. DPH1 subfamily. {ECO:0000305}.
Subcellular Location	Nucleus {ECO:0000269\|PubMed:10519411}. Cytoplasm {ECO:0000269\|PubMed:10519411}. Note=Punctate, primarily perinuclear localization.
Subunit	Interacts with DPH2 (By similarity). Interacts with RBM8A. {ECO:0000250, ECO:0000269\|PubMed:11013075}.
Tissue Specificity	Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian tumors. {ECO:0000269\|PubMed:10519411, ECO:0000269\|PubMed:8616839}.