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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr48107

Uniprot ID

UMPS_HUMAN

Uniprot Acc

P11172;O00758;O00759;O00760;Q16862;Q9H3Q2;Q9UG49;

Protein name

Uridine 5'-monophosphate synthase

Comment

CATALYTIC ACTIVITY:Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate.||CATALYTIC ACTIVITY:Orotidine 5'-phosphate = UMP + CO(2).||PATHWAY:Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate:step 1/2.||PATHWAY:Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate:step 2/2.||SUBUNIT:Homodimer.||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11172-1; Sequence=Displayed; Name=2; IsoId=P11172-2; Sequence=VSP 009273; Note=No experimental confirmation available;||DISEASE:Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.||SIMILARITY:In the N-terminal sect

Gene name

uridine monophosphate synthetase

Protein sequence

MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDL RGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTAL PLATVICSTNQIPMLIRRKETKDYGTKRLVEGTINPGET CLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQ GGKDKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGR VKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPR IHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALG PSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDR KFADIGNTVKKQYEGGIFKIASWADLVNAHVVPGSGVVK GLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAE EHSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQ QYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKA AWEAYLSRLGV

Database cross reference

RefSeq Protein accession:NP_000364
RefSeq Protein gi:4507835

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;

Ontology annotation

GO-C

GO:0005829;C:cytosol;TAS:Reactome. GO:0005634;C:nucleus;IDA:UniProtKB.

GO-F

GO:0004588;F:orotate phosphoribosyltransferase activity;IDA:UniProtKB. GO:0004590;F:orotidine-5'-phosphate decarboxylase activity;IDA:UniProtKB.

GO-P

GO:0006207;P:'de novo' pyrimidine base biosynthetic process;IEA:InterPro. GO:0044205;P:'de novo' UMP biosynthetic process;IEA:InterPro. GO:0046134;P:pyrimidine nucleoside biosynthetic process;TAS:Reactome.

Post-translational modification

LiverAtlas Protein ID

MOD type1

Position1

Residue1

Source name1

source ID1

Source method

HLPP validation1 (Yes/no)

Quality score

HuLPr48107

PHOSPHORYLATION

214

S

Phospho-ELM

32689

HTP

N

HuLPr48107

PHOSPHORYLATION

37

Y

Phospho-ELM

21682

HTP

N

HuLPr48107

PHOSPHORYLATION

214

S

PhosphoSitePlus

3180453

HTP

N

HuLPr48107

ACETYLATION

162

K

PhosphoSitePlus

11316094

HTP

N

HuLPr48107

PHOSPHORYLATION

444

S

PhosphoSitePlus

18017365

HTP

N

HuLPr48107

PHOSPHORYLATION

432

Y

PhosphoSitePlus

3972390

LTP

N

HuLPr48107

PHOSPHORYLATION

37

Y

PhosphoSitePlus

458476

LTP

N