| Tag | Content |
|---|---|
| Uniprot ID | H2QBU9; A0A2J8JKT9; |
| Entrez ID | 454415 |
| Genbank protein ID | JAA25992.1 |
| Genbank nucleotide ID | XM_511255.6 |
| Ensembl protein ID | ENSPTRP00000014578 |
| Ensembl nucleotide ID | ENSPTRG00000008542 |
| Gene name | 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 |
| Gene symbol | DPH1 |
| Organism | Pan troglodytes |
| NCBI taxa ID | 9598 |
| 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 | MRRQVMAALV VSGAAEQGGR NGPGRGRAPR GRVANQIPPE ILKNPQLQAA MRVLPSNYNF 60 EIPKTIWRIQ QAQAKKVALQ MPEGLLLFAC TIVDILERFT EAEVMVMGDV TYGACCVDDF 120 TARALGADFL VHYGHSCLIP MDTSAQDFRV LYVFVDIRID TTHLLDSLRL TFPPATALAL 180 VSTIQFVSTL QAAAQELKAE YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH 240 LESVMIANPN VPAYRYDPYS KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ 300 GSPKILEHLE SQLRALGLSF VRLLLSEIFP SKLSLLPEVD VWVQVACPRL SIDWGTAFPK 360 PLLTPYEAAV ALRDISWQQP YPMDFYAGSS LGPWTVNHGQ DRRPHAPGRP ARGKVQEGSA 420 RPPSAVACED CSCRDEKVAP LAP 443 |
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 |