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Protein

Histidine ammonia-lyase

Gene

HAL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-histidine degradation into L-glutamate

This protein is involved in step 1 of the subpathway that synthesizes N-formimidoyl-L-glutamate from L-histidine.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Histidine ammonia-lyase (hutH), Histidine ammonia-lyase (HAL)
  2. Urocanate hydratase (UROC1)
  3. Probable imidazolonepropionase (AMDHD1)
This subpathway is part of the pathway L-histidine degradation into L-glutamate, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes N-formimidoyl-L-glutamate from L-histidine, the pathway L-histidine degradation into L-glutamate and in Amino-acid degradation.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase
Biological processHistidine metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS01466-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-70921 Histidine catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00379;UER00549

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histidine ammonia-lyase (EC:4.3.1.3)
Short name:
Histidase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HAL
Synonyms:HIS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000084110.10

Human Gene Nomenclature Database

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HGNCi
HGNC:4806 HAL

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609457 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P42357

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Histidinemia (HISTID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.
See also OMIM:235800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_022915206R → T in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434327EnsemblClinVar.1
Natural variantiVAR_022916208R → L in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434328EnsemblClinVar.1
Natural variantiVAR_022917259P → L in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434329EnsemblClinVar.1
Natural variantiVAR_022918322R → P in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434330EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3034

MalaCards human disease database

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MalaCardsi
HAL
MIMi235800 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000084110

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2157 Histidinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29181

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4003

Drug and drug target database

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DrugBanki
DB00117 L-Histidine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HAL

Domain mapping of disease mutations (DMDM)

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DMDMi
1170423

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001610581 – 657Histidine ammonia-lyaseAdd BLAST657

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki253 ↔ 2555-imidazolinone (Ala-Gly)By similarity
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2542,3-didehydroalanine (Ser)PROSITE-ProRule annotation1
Modified residuei396PhosphothreonineBy similarity1
Modified residuei635PhosphoserineBy similarity1
Modified residuei637PhosphothreonineBy similarity1
Modified residuei648PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Contains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by cyclization and dehydration of residues Ala-Ser-Gly.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
P42357

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P42357

PeptideAtlas

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PeptideAtlasi
P42357

PRoteomics IDEntifications database

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PRIDEi
P42357

ProteomicsDB human proteome resource

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ProteomicsDBi
55514

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P42357

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P42357

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000084110 Expressed in 113 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

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CleanExi
HS_HAL

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P42357 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P42357 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038547
HPA038548

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109284, 44 interactors

Protein interaction database and analysis system

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IntActi
P42357, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261208

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P42357

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P42357

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PAL/histidase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0222 Eukaryota
COG2986 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009047

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000237619

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004509

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P42357

KEGG Orthology (KO)

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KOi
K01745

Identification of Orthologs from Complete Genome Data

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OMAi
CAPQVAG

Database of Orthologous Groups

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OrthoDBi
EOG091G036O

Database for complete collections of gene phylogenies

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PhylomeDBi
P42357

TreeFam database of animal gene trees

More...
TreeFami
TF313824

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00332 PAL-HAL, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.275.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001106 Aromatic_Lyase
IPR024083 Fumarase/histidase_N
IPR005921 HutH
IPR008948 L-Aspartase-like
IPR021922 Par3/HAL_N
IPR022313 Phe/His_NH3-lyase_AS

The PANTHER Classification System

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PANTHERi
PTHR10362 PTHR10362, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00221 Lyase_aromatic, 1 hit
PF12053 Par3_HAL_N_term, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48557 SSF48557, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01225 hutH, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00488 PAL_HISTIDASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P42357-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPRYTVHVRG EWLAVPCQDA QLTVGWLGRE AVRRYIKNKP DNGGFTSVDD
60 70 80 90 100
AHFLVRRCKG LGLLDNEDRL EVALENNEFV EVVIEGDAMS PDFIPSQPEG
110 120 130 140 150
VYLYSKYREP EKYIELDGDR LTTEDLVNLG KGRYKIKLTP TAEKRVQKSR
160 170 180 190 200
EVIDSIIKEK TVVYGITTGF GKFARTVIPI NKLQELQVNL VRSHSSGVGK
210 220 230 240 250
PLSPERCRML LALRINVLAK GYSGISLETL KQVIEMFNAS CLPYVPEKGT
260 270 280 290 300
VGASGDLAPL SHLALGLVGE GKMWSPKSGW ADAKYVLEAH GLKPVILKPK
310 320 330 340 350
EGLALINGTQ MITSLGCEAV ERASAIARQA DIVAALTLEV LKGTTKAFDT
360 370 380 390 400
DIHALRPHRG QIEVAFRFRS LLDSDHHPSE IAESHRFCDR VQDAYTLRCC
410 420 430 440 450
PQVHGVVNDT IAFVKNIITT ELNSATDNPM VFANRGETVS GGNFHGEYPA
460 470 480 490 500
KALDYLAIGI HELAAISERR IERLCNPSLS ELPAFLVAEG GLNSGFMIAH
510 520 530 540 550
CTAAALVSEN KALCHPSSVD SLSTSAATED HVSMGGWAAR KALRVIEHVE
560 570 580 590 600
QVLAIELLAA CQGIEFLRPL KTTTPLEKVY DLVRSVVRPW IKDRFMAPDI
610 620 630 640 650
EAAHRLLLEQ KVWEVAAPYI EKYRMEHIPE SRPLSPTAFS LQFLHKKSTK

IPESEDL
Length:657
Mass (Da):72,698
Last modified:November 1, 1995 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6B9FF97C066FB8F1
GO
Isoform 2 (identifier: P42357-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-657: PWIKDRFMAPDIEAAHRLLLEQKVWEVAAPYIEKYRMEHIPESRPLSPTAFSLQFLHKKSTKIPESEDL → FGK

Note: No experimental confirmation available.
Show »
Length:591
Mass (Da):64,888
Checksum:iDEBBCF642F5BC7DB
GO
Isoform 3 (identifier: P42357-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-208: Missing.

Note: No experimental confirmation available.
Show »
Length:449
Mass (Da):49,123
Checksum:iDD7DB9B250E4AFDA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VNX0F8VNX0_HUMAN
Histidine ammonia-lyase
HAL
336Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W0V1F8W0V1_HUMAN
Histidine ammonia-lyase
HAL
157Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YHB0H0YHB0_HUMAN
Histidine ammonia-lyase
HAL
154Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4VB95Q4VB95_HUMAN
HAL protein
HAL
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti549V → M in BAG64570 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022915206R → T in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434327EnsemblClinVar.1
Natural variantiVAR_022916208R → L in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434328EnsemblClinVar.1
Natural variantiVAR_022917259P → L in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434329EnsemblClinVar.1
Natural variantiVAR_022918322R → P in HISTID. 1 PublicationCorresponds to variant dbSNP:rs121434330EnsemblClinVar.1
Natural variantiVAR_006042439V → I4 PublicationsCorresponds to variant dbSNP:rs7297245EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0460031 – 208Missing in isoform 3. 1 PublicationAdd BLAST208
Alternative sequenceiVSP_044704589 – 657PWIKD…ESEDL → FGK in isoform 2. 1 PublicationAdd BLAST69

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D16626 mRNA Translation: BAA04047.1
AB042217 Genomic DNA Translation: BAB61863.1
AK298736 mRNA Translation: BAG60883.1
AK303544 mRNA Translation: BAG64570.1
AC007298 Genomic DNA No translation available.
AC126174 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97556.1
BC096097 mRNA Translation: AAH96097.1
BC096098 mRNA Translation: AAH96098.1
BC096099 mRNA Translation: AAH96099.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS58264.1 [P42357-3]
CCDS58265.1 [P42357-2]
CCDS9058.1 [P42357-1]

Protein sequence database of the Protein Information Resource

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PIRi
S43415

NCBI Reference Sequences

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RefSeqi
NP_001245262.1, NM_001258333.1 [P42357-3]
NP_001245263.1, NM_001258334.1 [P42357-2]
NP_002099.1, NM_002108.3 [P42357-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.190783
Hs.742210

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261208; ENSP00000261208; ENSG00000084110 [P42357-1]
ENST00000538703; ENSP00000440861; ENSG00000084110 [P42357-2]
ENST00000541929; ENSP00000446364; ENSG00000084110 [P42357-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3034

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3034

UCSC genome browser

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UCSCi
uc001tem.2 human [P42357-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D16626 mRNA Translation: BAA04047.1
AB042217 Genomic DNA Translation: BAB61863.1
AK298736 mRNA Translation: BAG60883.1
AK303544 mRNA Translation: BAG64570.1
AC007298 Genomic DNA No translation available.
AC126174 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97556.1
BC096097 mRNA Translation: AAH96097.1
BC096098 mRNA Translation: AAH96098.1
BC096099 mRNA Translation: AAH96099.1
CCDSiCCDS58264.1 [P42357-3]
CCDS58265.1 [P42357-2]
CCDS9058.1 [P42357-1]
PIRiS43415
RefSeqiNP_001245262.1, NM_001258333.1 [P42357-3]
NP_001245263.1, NM_001258334.1 [P42357-2]
NP_002099.1, NM_002108.3 [P42357-1]
UniGeneiHs.190783
Hs.742210

3D structure databases

ProteinModelPortaliP42357
SMRiP42357
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109284, 44 interactors
IntActiP42357, 3 interactors
STRINGi9606.ENSP00000261208

Chemistry databases

ChEMBLiCHEMBL4003
DrugBankiDB00117 L-Histidine

PTM databases

iPTMnetiP42357
PhosphoSitePlusiP42357

Polymorphism and mutation databases

BioMutaiHAL
DMDMi1170423

Proteomic databases

MaxQBiP42357
PaxDbiP42357
PeptideAtlasiP42357
PRIDEiP42357
ProteomicsDBi55514

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261208; ENSP00000261208; ENSG00000084110 [P42357-1]
ENST00000538703; ENSP00000440861; ENSG00000084110 [P42357-2]
ENST00000541929; ENSP00000446364; ENSG00000084110 [P42357-3]
GeneIDi3034
KEGGihsa:3034
UCSCiuc001tem.2 human [P42357-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3034
DisGeNETi3034
EuPathDBiHostDB:ENSG00000084110.10

GeneCards: human genes, protein and diseases

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GeneCardsi
HAL
HGNCiHGNC:4806 HAL
HPAiHPA038547
HPA038548
MalaCardsiHAL
MIMi235800 phenotype
609457 gene
neXtProtiNX_P42357
OpenTargetsiENSG00000084110
Orphaneti2157 Histidinemia
PharmGKBiPA29181

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0222 Eukaryota
COG2986 LUCA
GeneTreeiENSGT00390000009047
HOGENOMiHOG000237619
HOVERGENiHBG004509
InParanoidiP42357
KOiK01745
OMAiCAPQVAG
OrthoDBiEOG091G036O
PhylomeDBiP42357
TreeFamiTF313824

Enzyme and pathway databases

UniPathwayi
UPA00379;UER00549

BioCyciMetaCyc:HS01466-MONOMER
ReactomeiR-HSA-70921 Histidine catabolism

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Histidine_ammonia-lyase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3034

Protein Ontology

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PROi
PR:P42357

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000084110 Expressed in 113 organ(s), highest expression level in liver
CleanExiHS_HAL
ExpressionAtlasiP42357 baseline and differential
GenevisibleiP42357 HS

Family and domain databases

CDDicd00332 PAL-HAL, 1 hit
Gene3Di1.10.275.10, 1 hit
InterProiView protein in InterPro
IPR001106 Aromatic_Lyase
IPR024083 Fumarase/histidase_N
IPR005921 HutH
IPR008948 L-Aspartase-like
IPR021922 Par3/HAL_N
IPR022313 Phe/His_NH3-lyase_AS
PANTHERiPTHR10362 PTHR10362, 1 hit
PfamiView protein in Pfam
PF00221 Lyase_aromatic, 1 hit
PF12053 Par3_HAL_N_term, 1 hit
SUPFAMiSSF48557 SSF48557, 1 hit
TIGRFAMsiTIGR01225 hutH, 1 hit
PROSITEiView protein in PROSITE
PS00488 PAL_HISTIDASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHUTH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P42357
Secondary accession number(s): B4DQC1
, B4E0V8, F5GXF2, F5H1U5, Q4VB92, Q4VB93
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: December 5, 2018
This is version 169 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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