| Tag | Content |
|---|---|
| Uniprot ID | B2RYK2; F1LSH8; |
| Entrez ID | 287523 |
| Genbank protein ID | EDM05202.1; AAI66808.1; |
| Genbank nucleotide ID | NM_001105809.2 |
| Ensembl protein ID | ENSRNOP00000004161; ENSRNOP00000072126; |
| Ensembl nucleotide ID | ENSRNOG00000003116 |
| Gene name | 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 |
| Gene symbol | Dph1 |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| 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 | MAALVVPETS EPGSRVGPGR GRISRGRLAN QIPPEILNSP QLQAAVHALP SNYNFEIPKT 60 IWRIQQAQAK KVALQMPEGL LLFACTIVDI LERFTKAEVM VMGDVTYGAC CVDDFTARAL 120 GVDFLVHYGH SCLVPMDTSV QDFRVLYVFV DIRIDTAHLL DSVRLTFTPG SSLALVSTIQ 180 FVSTLQAAAQ ELKADYHISV PQCKPLSPGE ILGCTSPRLP KEVEAVVYLG DGRFHLESVM 240 IANPNIPSYR YDPYSKVLSR EYYDHQRMQA TRQEAIAAAR SAKFWGLILG TLGRQGSPKV 300 LEHLESQLRN LGLPFLRLLL SEIFPSKLSL LPSVDVWVQV ACPRLSIDWG SAFPKPLLTP 360 YEAAVALKEI SWQQPYPMDF YAGSSLGPWT VNHGRDRAPR GLCQPASDKV QQGSRGHSPV 420 PACEGCSCAD QKATPPAP 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | DPH1 | F1MGR8 | Bos taurus | Prediction | More>> | |||
| 1:1 ortholog | DPH1 | 106501727 | A0A452DRF6 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | DPH1 | 1801 | Q9BZG8 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Dph1 | 116905 | Q5NCQ5 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | DPH1 | 454415 | H2QBU9 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Dph1 | 287523 | B2RYK2 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | dph1 | F1QK18 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0030054 | cell junction |
| GO:0005654 | nucleoplasm |
| GO:0016740 | transferase activity |
| GO:0008283 | cell population proliferation |
| GO:0017183 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine |
| Pfam ID | Pfam Term |
|---|---|
| PF01866 | Diphthamide_syn |