P42357 (HUTH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Histidine ammonia-lyase
Short name=Histidase
EC=4.3.1.3

Gene names

Name:	HAL
Synonyms:	HIS

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	657 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	L-histidine = urocanate + NH3.
Pathway	Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 1/3.
Post-translational modification	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.
Involvement in disease	Defects in HAL are the cause of histidinemia (HISTID) [MIM:235800]. It is an autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. Ref.5
Sequence similarities	Belongs to the PAL/histidase family.

Ontologies

Keywords
Biological process	Histidine metabolism
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Molecular function	Lyase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	biosynthetic process Inferred from electronic annotation. Source: InterPro histidine catabolic process Traceable author statement. Source: Reactome
Cellular component	cytosol Traceable author statement. Source: Reactome
Molecular function	histidine ammonia-lyase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 657	657	Histidine ammonia-lyase		PRO_0000161058
Amino acid modifications
	Modified residue	254	1	2,3-didehydroalanine (Ser) By similarity
	Modified residue	631	1	Phosphoserine By similarity
	Modified residue	635	1	Phosphoserine By similarity
	Modified residue	648	1	Phosphoserine By similarity
	Cross-link	253 ↔ 255		5-imidazolinone (Ala-Gly) By similarity
Natural variations
	Natural variant	206	1	R → T in HISTID. Ref.5		VAR_022915
	Natural variant	208	1	R → L in HISTID. Ref.5		VAR_022916
	Natural variant	259	1	P → L in HISTID. Ref.5		VAR_022917
	Natural variant	322	1	R → P in HISTID. Ref.5		VAR_022918
	Natural variant	439	1	V → I. Ref.2 Ref.3 Ref.4 Corresponds to variant rs7297245 [ dbSNP | Ensembl ].		VAR_006042

Sequences

	Sequence		Length	Mass (Da)
	P42357 [UniParc]. Last modified November 1, 1995. Version 1. Checksum: 6B9FF97C066FB8F1	FASTA	657	72,698
	10 20 30 40 50 60 MPRYTVHVRG EWLAVPCQDA QLTVGWLGRE AVRRYIKNKP DNGGFTSVDD AHFLVRRCKG 70 80 90 100 110 120 LGLLDNEDRL EVALENNEFV EVVIEGDAMS PDFIPSQPEG VYLYSKYREP EKYIELDGDR 130 140 150 160 170 180 LTTEDLVNLG KGRYKIKLTP TAEKRVQKSR EVIDSIIKEK TVVYGITTGF GKFARTVIPI 190 200 210 220 230 240 NKLQELQVNL VRSHSSGVGK PLSPERCRML LALRINVLAK GYSGISLETL KQVIEMFNAS 250 260 270 280 290 300 CLPYVPEKGT VGASGDLAPL SHLALGLVGE GKMWSPKSGW ADAKYVLEAH GLKPVILKPK 310 320 330 340 350 360 EGLALINGTQ MITSLGCEAV ERASAIARQA DIVAALTLEV LKGTTKAFDT DIHALRPHRG 370 380 390 400 410 420 QIEVAFRFRS LLDSDHHPSE IAESHRFCDR VQDAYTLRCC PQVHGVVNDT IAFVKNIITT 430 440 450 460 470 480 ELNSATDNPM VFANRGETVS GGNFHGEYPA KALDYLAIGI HELAAISERR IERLCNPSLS 490 500 510 520 530 540 ELPAFLVAEG GLNSGFMIAH CTAAALVSEN KALCHPSSVD SLSTSAATED HVSMGGWAAR 550 560 570 580 590 600 KALRVIEHVE QVLAIELLAA CQGIEFLRPL KTTTPLEKVY DLVRSVVRPW IKDRFMAPDI 610 620 630 640 650 EAAHRLLLEQ KVWEVAAPYI EKYRMEHIPE SRPLSPTAFS LQFLHKKSTK IPESEDL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of a cDNA encoding human histidase." Suchi M., Harada N., Wada Y., Takagi Y. Biochim. Biophys. Acta 1216:293-295(1993) [PubMed: 7916645] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[2]	"Molecular cloning and structural characterization of the human histidase gene (HAL)." Suchi M., Sano H., Mizuno H., Wada Y. Genomics 29:98-104(1995) [PubMed: 8530107] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-439.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-439.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-439.
[5]	"Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene." Kawai Y., Moriyama A., Asai K., Coleman-Campbell C.M., Sumi S., Morishita H., Suchi M. Hum. Genet. 116:340-346(2005) [PubMed: 15806399] [Abstract] Cited for: VARIANTS HISTID THR-206; LEU-208; LEU-259 AND PRO-322.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	D16626 mRNA. Translation: BAA04047.1. AB042217 Genomic DNA. Translation: BAB61863.1. CH471054 Genomic DNA. Translation: EAW97556.1. BC096097 mRNA. Translation: AAH96097.1. BC096098 mRNA. Translation: AAH96098.1. BC096099 mRNA. Translation: AAH96099.1.
IPI	IPI00031425.
PIR	S43415.
RefSeq	NP_002099.1. NM_002108.2.
UniGene	Hs.190783.
3D structure databases
ProteinModelPortal	P42357.
SMR	P42357. Positions 3-85, 112-619.
ModBase	Search...
Protein-protein interaction databases
STRING	P42357.
PTM databases
PhosphoSite	P42357.
Polymorphism databases
DMDM	1170423.
Proteomic databases
PRIDE	P42357.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261208; ENSP00000261208; ENSG00000084110.
GeneID	3034.
KEGG	hsa:3034.
NMPDR	fig|9606.3.peg.8073.
UCSC	uc001tem.1. human.
Organism-specific databases
CTD	3034.
GeneCards	GC12M096300.
H-InvDB	HIX0036854.
HGNC	HGNC:4806. HAL.
HPA	HPA038547. HPA038548.
MIM	235800. phenotype. 609457. gene.
neXtProt	NX_P42357.
Orphanet	2157. Histidinemia.
PharmGKB	PA29181.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19349.
HOGENOM	HBG510887.
HOVERGEN	HBG004509.
InParanoid	P42357.
OMA	QKGQIDS.
OrthoDB	EOG4MW85M.
PhylomeDB	P42357.
Enzyme and pathway databases
BioCyc	MetaCyc:MONOMER-11649.
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P42357.
Bgee	P42357.
CleanEx	HS_HAL.
Genevestigator	P42357.
GermOnline	ENSG00000084110. Homo sapiens.
Family and domain databases
InterPro	IPR005921. HutH. IPR008948. L-Aspartase-like. IPR024083. L-Aspartase-like_N. IPR001106. Phe/His_NH3-lyase. IPR022313. Phe/His_NH3-lyase_AS. [Graphical view]
Gene3D	G3DSA:1.10.275.10. G3DSA:1.10.275.10. 1 hit.
KO	K01745.
Pfam	PF00221. PAL. 1 hit. [Graphical view]
SUPFAM	SSF48557. L-Aspartase-like. 1 hit.
TIGRFAMs	TIGR01225. HutH. 1 hit.
PROSITE	PS00488. PAL_HISTIDASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00117. L-Histidine.
NextBio	12010.
SOURCE	Search...

Entry information

Entry name

HUTH_HUMAN

Accession

Primary (citable) accession number: P42357
Secondary accession number(s): Q4VB92, Q4VB93

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	November 1, 1995
Last modified:	January 25, 2012
This is version 107 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.