Gene: Dph1

Basic information

Tag Content
Uniprot ID Q5NCQ5; Q80UX6; Q8R445;
Entrez ID 116905
Genbank protein ID AAM14629.1; AAH44663.1;
Genbank nucleotide ID NM_144491.2
Ensembl protein ID ENSMUSP00000042162
Ensembl nucleotide ID ENSMUSG00000078789
Gene name 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
Gene symbol Dph1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 14744934; 24895408;
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). Acts also as a tumor suppressor in lung and breast cancers. Plays a role in embryonic growth, organogenesis and postnatal survival. When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells (By similarity).
Sequence
MAALVVSETA EPGSRVGPGR GRISRGRLAN QIPPEVLNNP QLQAAVQVLP SNYNFEIPKT 60
IWRIQQAQAK KVALQMPEGL LLFACTIVDI LERFTEAEVM VMGDVTYGAC CVDDFTARAL 120
GVDFLVHYGH SCLVPMDTSV QDFRVLYVFV DIRIDTAHLL DSVRLTFTPG SSLALVSTIQ 180
FVSTLQAAAQ ELKADYHISV PQCKPLSPGE ILGCTSPRLS KEVEAVVYLG DGRFHLESVM 240
IANPNIPAYR YDPYGKVLSR EYYDHQRMQA TRQEAIAAAR SAKSWGLILG TLGRQGSPKI 300
LEHLESQLRN LGLPFVRLLL SEIFPSKLSL LPEVDVWVQV ACPRLSIDWG SAFPKPLLTP 360
YEAAVALKDI SWQQPYPMDF YSGSSLGPWT VNYGRDRAPR GLCQPASDKV QQGSRGGSPA 420
PACESCNCAD QKATSPAP 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 structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0016740 transferase activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0008283 cell population proliferationIMP
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidineIEA
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidineIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmIEA
GO:0030054 cell junctionISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-163841 Gamma carboxylation, hypusine formation and arylsulfatase activationIEA
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-5358493 Synthesis of diphthamide-EEF2IEA
R-MMU-597592 Post-translational protein modificationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0963 Cytoplasm
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0949 S-adenosyl-L-methionine
KW-0808 Transferase
KW-0043 Tumor suppressor

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

Protein-miRNA interaction