| Tag | Content |
|---|---|
| Uniprot ID | Q9BZG8; D3DTI3; Q16439; Q4VBA2; Q9BTW7; Q9UCY0; |
| Entrez ID | 1801 |
| Genbank protein ID | EAW90569.1; AAH03099.2; EAW90567.1; AAD10198.1; AAV38681.1; AAB36297.1; AAK13428.1; AAH96088.1; |
| Genbank nucleotide ID | NM_001383.4; NM_001346576.1; |
| Ensembl protein ID | ENSP00000263083; ENSP00000458726; |
| Ensembl nucleotide ID | ENSG00000108963 |
| Gene name | 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 |
| Gene symbol | DPH1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | 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). |
| Sequence | MRRQVMAALV VSGAAEQGGR DGPGRGRAPR GRVANQIPPE ILKNPQLQAA IRVLPSNYNF 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 SRLRALGLSF 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.