Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Gene Ontology annotation based on curation of immunofluorescence data

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Combined Automated Annotation using Multiple IEA Methods

Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells.

A proteome-scale map of the human interactome network.

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

DPH2 transfers a 3-amino-3-carboxypropyl group from AdoMet to residue 715 of nascent EEF2

The asymmetric function of Dph1-Dph2 heterodimer in diphthamide biosynthesis.

Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.

A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3.

Identification of two candidate tumor suppressor genes on chromosome 17p13.3.

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

UniProtKB Q9BZG8 (DPH1_HUMAN)

UniProtKB Q12800 (TFCP2_HUMAN)

Subcellular - DPH1 - The Human Protein Atlas