ID I3L3X9_HUMAN Unreviewed; 148 AA.
AC I3L3X9;
DT 11-JUL-2012, integrated into UniProtKB/TrEMBL.
DT 11-JUL-2012, sequence version 1.
DT 27-MAR-2024, entry version 64.
DE SubName: Full=Diphthamide biosynthesis 1 {ECO:0000313|Ensembl:ENSP00000460813.1};
DE Flags: Fragment;
GN Name=DPH1 {ECO:0000313|Ensembl:ENSP00000460813.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000460813.1, ECO:0000313|Proteomes:UP000005640};
RN [1] {ECO:0000313|Ensembl:ENSP00000460813.1, ECO:0000313|Proteomes:UP000005640}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2] {ECO:0000313|Ensembl:ENSP00000460813.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; AC090617; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099684; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR MassIVE; I3L3X9; -.
DR MaxQB; I3L3X9; -.
DR PeptideAtlas; I3L3X9; -.
DR ProteomicsDB; 47350; -.
DR Antibodypedia; 22821; 239 antibodies from 25 providers.
DR Ensembl; ENST00000571710.6; ENSP00000460813.1; ENSG00000108963.19.
DR UCSC; uc059zkn.1; human.
DR HGNC; HGNC:3003; DPH1.
DR VEuPathDB; HostDB:ENSG00000108963; -.
DR GeneTree; ENSGT00940000153694; -.
DR HOGENOM; CLU_148389_0_0_1; -.
DR ChiTaRS; DPH1; human.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000108963; Expressed in pituitary gland and 97 other cell types or tissues.
DR ExpressionAtlas; I3L3X9; baseline and differential.
DR GO; GO:0090560; F:2-(3-amino-3-carboxypropyl)histidine synthase activity; IEA:InterPro.
DR GO; GO:0017183; P:protein histidyl modification to diphthamide; IEA:InterPro.
DR Gene3D; 3.40.50.11860; Diphthamide synthesis DPH1/DPH2 domain 3; 1.
DR InterPro; IPR016435; DPH1/DPH2.
DR InterPro; IPR042265; DPH1/DPH2_3.
DR NCBIfam; TIGR00322; diphth2_R; 1.
DR PANTHER; PTHR10762:SF1; 2-(3-AMINO-3-CARBOXYPROPYL)HISTIDINE SYNTHASE SUBUNIT 1; 1.
DR PANTHER; PTHR10762; DIPHTHAMIDE BIOSYNTHESIS PROTEIN; 1.
DR Pfam; PF01866; Diphthamide_syn; 1.
DR SFLD; SFLDS00032; Radical_SAM_3-amino-3-carboxyp; 1.
PE 1: Evidence at protein level;
KW Proteomics identification {ECO:0007829|EPD:I3L3X9,
KW ECO:0007829|MaxQB:I3L3X9};
KW Reference proteome {ECO:0000313|Proteomes:UP000005640}.
FT REGION 99..131
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT NON_TER 1
FT /evidence="ECO:0000313|Ensembl:ENSP00000460813.1"
SQ SEQUENCE 148 AA; 16277 MW; D7DFD46F1FDDDF37 CRC64;
XLGRQGSPKI LEHLESRLRA LGLSFVRLLL SEIFPSKLSL LPEVDVWVQV ACPRLSIDWG
TAFPKPLLTP YEAAVALRDI SWQQPYPMDF YAGSSLGPWT VNHGQDRRPH APGRPARGKV
QEGSARPPSA VACEDCSCRD EKVAPLAP
//