UROC1

Protein identityUniProt · HPA

UniProt accession

Q96N76

Gene

UROC1

Ensembl

ENSG00000159650

Chromosome

3

Canonical length

676 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]

Canonical amino-acid sequenceUniProt

676 residues, UniProt reviewed canonical sequence.

>Q96N76|UROC1
     1  MSSLQALCSG LPLRPLPENR GRQAGVPHAP VRTPSLSPVE KQLALRNALR YFPPDVQELL
    61  APEFAQELQL YGHIYMYRFC PDIEMRAYPI EQYPCQTKVA AAIMHMIMNN LDPAVAQFPQ
   121  ELVTYGGNGQ VFSNWAQFWL TMFYLSKMTE EQTLVMYSGH PLGLFPSSRS APRLVITNGM
   181  VIPNYSSRTE YEKLFALGVT MYGQMTAGSY CYIGPQGIVH GTVLTVLNAA RRYLGIEDLA
   241  GKVFVTSGLG GMSGAQAKAA VIVGCIGVIA EVDKAALEKR HRQGWLMEVT DSLDRCIQRL
   301  REARKKKEVL SLGYHGNVVA LWERLVHELD TTGECLVDLG SDQTSCHNPF NGGYYPVQLS
   361  FTEAQSLMAS NPAVFKDLVQ ESLRRQVSAI NRLAEEKFFF WDYGNAFLLE AQRAGADVEK
   421  KGAGRTEFRY PSYVQHIMGD IFSQGFGPFR WVCTSGDPQD LAVTDELATS VLEEAIADGV
   481  KVSVKLQYMD NIRWIREAAR HRLVVGSQAR ILYSDQKGRV AIAVAINQAI ACRRIKAPVV
   541  LSRDHHDVSG TDSPFRETSN IYDGSAFCAD MAVQNFVGDA CRGATWVALH NGGGVGWGEV
   601  INGGFGLVLD GTPEAEGRAR LMLSWDVSNG VARRCWSGNQ KAYEIICQTM QENSTLVVTL
   661  PHKVEDERVL QQALQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UROC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.2

Highest tissue expression

113 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UROC1.

Disease | AllUniProt

Conditions UROC1 is implicated in, by any mechanism.

• Urocanase deficiency (UROCD) MIM:276880

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 224 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Urocanate hydratase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.98

gnomAD pLI

0

gnomAD missense Z

-0.51

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-histidine catabolic process
• L-histidine catabolic process to glutamate and formamide
• L-histidine catabolic process to glutamate and formate

Molecular functions

• urocanate hydratase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Urocanase conserved site
• Urocanase-like
• Urocanase, Rossmann-like domain
• Urocanase, N-terminal domain
• Urocanase, C-terminal domain
• Urocanase superfamily
• Urocanase, central domain superfamily
• Urocanase Rossmann-like domain
• Urocanase N-terminal domain
• Urocanase C-terminal domain

KeywordsUniProt

• Histidine metabolism
• Lyase
• NAD