HAL

Protein identityUniProt · HPA

UniProt accession

P42357

Gene

HAL

Ensembl

ENSG00000084110

Chromosome

12

Canonical length

657 aa

Protein class

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

Subcellular location

Cytosol

OverviewNCBI Gene

Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Canonical amino-acid sequenceUniProt

657 residues, UniProt reviewed canonical sequence.

>P42357|HAL
     1  MPRYTVHVRG EWLAVPCQDA QLTVGWLGRE AVRRYIKNKP DNGGFTSVDD AHFLVRRCKG
    61  LGLLDNEDRL EVALENNEFV EVVIEGDAMS PDFIPSQPEG VYLYSKYREP EKYIELDGDR
   121  LTTEDLVNLG KGRYKIKLTP TAEKRVQKSR EVIDSIIKEK TVVYGITTGF GKFARTVIPI
   181  NKLQELQVNL VRSHSSGVGK PLSPERCRML LALRINVLAK GYSGISLETL KQVIEMFNAS
   241  CLPYVPEKGT VGASGDLAPL SHLALGLVGE GKMWSPKSGW ADAKYVLEAH GLKPVILKPK
   301  EGLALINGTQ MITSLGCEAV ERASAIARQA DIVAALTLEV LKGTTKAFDT DIHALRPHRG
   361  QIEVAFRFRS LLDSDHHPSE IAESHRFCDR VQDAYTLRCC PQVHGVVNDT IAFVKNIITT
   421  ELNSATDNPM VFANRGETVS GGNFHGEYPA KALDYLAIGI HELAAISERR IERLCNPSLS
   481  ELPAFLVAEG GLNSGFMIAH CTAAALVSEN KALCHPSSVD SLSTSAATED HVSMGGWAAR
   541  KALRVIEHVE QVLAIELLAA CQGIEFLRPL KTTTPLEKVY DLVRSVVRPW IKDRFMAPDI
   601  EAAHRLLLEQ KVWEVAAPYI EKYRMEHIPE SRPLSPTAFS LQFLHKKSTK IPESEDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HAL 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)

0.24

Highest tissue expression

184 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HAL.

Disease | AllUniProt

Conditions HAL is implicated in, by any mechanism.

• Histidinemia (HISTID) MIM:235800

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 213 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Histidinemia

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)

1.31

gnomAD pLI

0

gnomAD missense Z

-0.26

DepMap mean gene effect

-0.18

DepMap dependency class

selective

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

• histidine ammonia-lyase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• L-Aspartase-like
• Fumarase/histidase, N-terminal
• Aromatic amino acid lyase
• Histidine ammonia-lyase
• Phenylalanine/histidine ammonia-lyases, active site
• Aromatic amino acid lyase

KeywordsUniProt

• Histidine metabolism
• Lyase
• Phosphoprotein