Gene: DPH1

Basic information

Tag Content
Uniprot ID A0A452DRF6
Entrez ID 106501727
Genbank protein ID
Genbank nucleotide ID XM_018064404.1
Ensembl protein ID ENSCHIP00000002285
Ensembl nucleotide ID ENSCHIG00000004852
Gene name 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
Gene symbol DPH1
Organism Capra hircus
NCBI taxa ID 9925
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Required for the first step of diphthamide biosynthesis, the transfer of 3-amino-3-carboxypropyl from S-adenosyl-L-methionine to a histidine residue. Diphthamide is a post-translational modification of histidine which occurs in elongation factor 2.
Sequence
MAALVAAEAA DSCSRNGPGR GRAPRGRLAN QIPAEILNNP QLQAAIQVLP SNYNFEIPKT 60
IWRIQQAQAK KVALQMPEGL LLFACTIVDI LERFTEAEVM VMGDVTYGAC CVDDFTARAL 120
GADFLVHYGH SCLVPMDTSA QDFRVLYVFV DIRIDTAHLL DSIRLTFPPA SALALVSTIQ 180
FVSTLQAAAQ ELKAEYRVSV PQCKPLSPGE ILGCTSPCLP KEVEAVVYLG DGRFHLESVM 240
IANPNISAYR YDPYSKVLSR EHYDHQRMQA NRQEAIATAR SAKSWGLILG TLGRQGSPKI 300
LEHLESRLQA LGLPFVRLLL SEIFPSKLSL LPEVDVWVQV ACPRLSIDWG TAFPKPLLTP 360
YEAAVALRDI SWQQPYPMDF YASSSLGPWT VNHGRDRLLQ VPGRPGLEKV QGGPARPSPA 420
AACEACSCRG EEVSAIAP 438

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologDPH1F1MGR8Bos taurusPredictionMore>>
1:1 orthologDPH1106501727A0A452DRF6Capra hircusPredictionMore>>
1:1 orthologDPH11801Q9BZG8Homo sapiensPredictionMore>>
1:1 orthologDph1116905Q5NCQ5CPOMus musculusPublicationMore>>
1:1 orthologDPH1454415H2QBU9Pan troglodytesPredictionMore>>
1:1 orthologDph1287523B2RYK2Rattus norvegicusPredictionMore>>
1:1 orthologdph1F1QK18Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0016740 transferase activity
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome
KW-0949 S-adenosyl-L-methionine
KW-0808 Transferase

Interpro

InterPro ID InterPro Term
IPR016435 DPH1/DPH2
IPR042263 DPH1/DPH2_1
IPR042264 DPH1/DPH2_2
IPR042265 DPH1/DPH2_3
IPR035435 DPH1/DPH2_euk_archaea

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF01866 Diphthamide_syn