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Entry version 205 (12 Aug 2020)
Sequence version 2 (01 Aug 1991)
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Protein

5-aminolevulinate synthase, nonspecific, mitochondrial

Gene

ALAS1

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

Annotation score:5 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

Miscellaneous

There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one (housekeeping) which is expressed in all tissues.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

pyridoxal 5'-phosphate

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protoporphyrin-IX biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes 5-aminolevulinate from glycine.
Proteins known to be involved in this subpathway in this organism are:
  1. 5-aminolevulinate synthase (ALAS2), 5-aminolevulinate synthase, nonspecific, mitochondrial (ALAS1), 5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS2), 5-aminolevulinate synthase (ALAS1), 5-aminolevulinate synthase, 5-aminolevulinate synthase
This subpathway is part of the pathway protoporphyrin-IX biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes 5-aminolevulinate from glycine, the pathway protoporphyrin-IX biosynthesis and in Porphyrin-containing compound metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei217SubstrateBy similarity1
Binding sitei334SubstrateBy similarity1
Binding sitei353SubstrateBy similarity1
Binding sitei386Pyridoxal phosphateBy similarity1
Binding sitei414Pyridoxal phosphateBy similarity1
Binding sitei442Pyridoxal phosphateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei445By similarity1
Binding sitei474Pyridoxal phosphate; shared with dimeric partnerBy similarity1
Binding sitei475Pyridoxal phosphate; shared with dimeric partnerBy similarity1
Binding sitei562SubstrateBy similarity1

<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 functionAcyltransferase, Transferase
Biological processHeme biosynthesis
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00424-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.3.1.37, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P13196

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-189451, Heme biosynthesis
R-HSA-1989781, PPARA activates gene expression
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis

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

More...
UniPathwayi
UPA00251;UER00375

<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%5Fand%5Ftaxonomy%5Fsection">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:
5-aminolevulinate synthase, nonspecific, mitochondrial (EC:2.3.1.37)
Short name:
ALAS-H
Alternative name(s):
5-aminolevulinic acid synthase 1
Delta-ALA synthase 1
Delta-aminolevulinate synthase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ALAS1
Synonyms:ALAS3, ALASH
ORF Names:OK/SW-cl.121
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000023330.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:396, ALAS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
125290, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P13196

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
211

Open Targets

More...
OpenTargetsi
ENSG00000023330

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24688

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P13196, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00145, Glycine
DB00114, Pyridoxal phosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALAS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
122824

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 56MitochondrionAdd BLAST56
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000123057 – 6405-aminolevulinate synthase, nonspecific, mitochondrialAdd BLAST584

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei445N6-(pyridoxal phosphate)lysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P13196

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P13196

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P13196

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

More...
PaxDbi
P13196

PeptideAtlas

More...
PeptideAtlasi
P13196

PRoteomics IDEntifications database

More...
PRIDEi
P13196

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
52898 [P13196-1]
52899 [P13196-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P13196

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
P13196

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

More...
PhosphoSitePlusi
P13196

<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

More...
Bgeei
ENSG00000023330, Expressed in right adrenal gland and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P13196, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P13196, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000023330, Tissue enhanced (adrenal gland, liver)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
P13196
With#Exp.IntAct
itself4EBI-3905054,EBI-3905054
BCL7A [Q4VC05]3EBI-3905054,EBI-359917
C2orf42 [Q9NWW7]3EBI-3905054,EBI-2812028
CAP2 [P40123]3EBI-3905054,EBI-1051165
CCHCR1 - isoform 3 [Q8TD31-3]3EBI-3905054,EBI-10175300
CDC73 [Q6P1J9]9EBI-3905054,EBI-930143
CERK [Q8TCT0]3EBI-3905054,EBI-10274247
COBL [O75128]3EBI-3905054,EBI-3446582
DUSP19 [Q8WTR2]8EBI-3905054,EBI-8654968
EP400 [A0A0A0MR80]3EBI-3905054,EBI-12089140
EP400 [Q96L91]4EBI-3905054,EBI-399163
FBXL8 [Q96CD0]3EBI-3905054,EBI-2321097
GNL3L [Q9NVN8]3EBI-3905054,EBI-746682
GRXCR1 [A8MXD5]3EBI-3905054,EBI-5235612
HSBP1L1 [C9JCN9]3EBI-3905054,EBI-2685549
JRK - isoform 2 [O75564-2]3EBI-3905054,EBI-17181882
KIF9 [Q9HAQ2]3EBI-3905054,EBI-8472129
KLHL35 [Q6PF15]3EBI-3905054,EBI-9477654
LONRF1 [Q17RB8]6EBI-3905054,EBI-2341787
LRRC45 [Q96CN5]3EBI-3905054,EBI-2805176
MTFR2 [Q6P444]5EBI-3905054,EBI-10252703
MTSS2 [Q765P7]3EBI-3905054,EBI-2815102
PIBF1 [Q4G0R1]3EBI-3905054,EBI-14066006
POLDIP2 [Q9Y2S7]4EBI-3905054,EBI-713000
PPL [O60437]6EBI-3905054,EBI-368321
RNF168 [Q8IYW5]3EBI-3905054,EBI-914207
RTL8B [Q17RB0]6EBI-3905054,EBI-10238588
SH2D4A [Q9H788]3EBI-3905054,EBI-747035
SNRPB2 [P08579]3EBI-3905054,EBI-1053651
SNX20 [Q7Z614]3EBI-3905054,EBI-744896
TCEA2 [Q15560]3EBI-3905054,EBI-710310
TEKT4 [Q8WW24]6EBI-3905054,EBI-750487
TMSB10 [P63313]6EBI-3905054,EBI-2688673
TMSB4X [Q0P5Q0]3EBI-3905054,EBI-10226570
TTC23 [Q5W5X9]3EBI-3905054,EBI-6447954
USP20 [Q9Y2K6]3EBI-3905054,EBI-2511991
UTP14C [Q5TAP6]3EBI-3905054,EBI-11737646
WIPF1 [O43516]3EBI-3905054,EBI-346356
ZFYVE26 - isoform 5 [Q68DK2-5]3EBI-3905054,EBI-8656416
ZNF175 [Q9Y473]6EBI-3905054,EBI-3438881
ZNF564 [Q8TBZ8]6EBI-3905054,EBI-10273713

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
106713, 68 interactors

Protein interaction database and analysis system

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IntActi
P13196, 70 interactors

Molecular INTeraction database

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MINTi
P13196

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378416

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P13196, protein

<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

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

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SMRi
P13196

Database of comparative protein structure models

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ModBasei
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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1360, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156030

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_015846_6_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P13196

KEGG Orthology (KO)

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KOi
K00643

Identification of Orthologs from Complete Genome Data

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OMAi
RRKHQRN

Database of Orthologous Groups

More...
OrthoDBi
930001at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P13196

TreeFam database of animal gene trees

More...
TreeFami
TF300724

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.640.10, 1 hit
3.90.1150.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010961, 4pyrrol_synth_NH2levulA_synth
IPR015118, 5aminolev_synth_preseq
IPR001917, Aminotrans_II_pyridoxalP_BS
IPR004839, Aminotransferase_I/II
IPR015424, PyrdxlP-dep_Trfase
IPR015422, PyrdxlP-dep_Trfase_dom1
IPR015421, PyrdxlP-dep_Trfase_major

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00155, Aminotran_1_2, 1 hit
PF09029, Preseq_ALAS, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53383, SSF53383, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01821, 5aminolev_synth, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00599, AA_TRANSFER_CLASS_2, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P13196-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MESVVRRCPF LSRVPQAFLQ KAGKSLLFYA QNCPKMMEVG AKPAPRALST
60 70 80 90 100
AAVHYQQIKE TPPASEKDKT AKAKVQQTPD GSQQSPDGTQ LPSGHPLPAT
110 120 130 140 150
SQGTASKCPF LAAQMNQRGS SVFCKASLEL QEDVQEMNAV RKEVAETSAG
160 170 180 190 200
PSVVSVKTDG GDPSGLLKNF QDIMQKQRPE RVSHLLQDNL PKSVSTFQYD
210 220 230 240 250
RFFEKKIDEK KNDHTYRVFK TVNRRAHIFP MADDYSDSLI TKKQVSVWCS
260 270 280 290 300
NDYLGMSRHP RVCGAVMDTL KQHGAGAGGT RNISGTSKFH VDLERELADL
310 320 330 340 350
HGKDAALLFS SCFVANDSTL FTLAKMMPGC EIYSDSGNHA SMIQGIRNSR
360 370 380 390 400
VPKYIFRHND VSHLRELLQR SDPSVPKIVA FETVHSMDGA VCPLEELCDV
410 420 430 440 450
AHEFGAITFV DEVHAVGLYG ARGGGIGDRD GVMPKMDIIS GTLGKAFGCV
460 470 480 490 500
GGYIASTSSL IDTVRSYAAG FIFTTSLPPM LLAGALESVR ILKSAEGRVL
510 520 530 540 550
RRQHQRNVKL MRQMLMDAGL PVVHCPSHII PVRVADAAKN TEVCDELMSR
560 570 580 590 600
HNIYVQAINY PTVPRGEELL RIAPTPHHTP QMMNYFLENL LVTWKQVGLE
610 620 630 640
LKPHSSAECN FCRRPLHFEV MSEREKSYFS GLSKLVSAQA
Length:640
Mass (Da):70,581
Last modified:August 1, 1991 - v2
<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:i5E952DCCFFD6873F
GO
Isoform 2 (identifier: P13196-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-118: HPLPATSQGTASKCPFLAAQMNQR → FRLDTPCLPQARALQANALSWQHR
     119-640: Missing.

Show »
Length:118
Mass (Da):12,961
Checksum:iE4B74A55EDB54F70
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4H7H7C4H7_HUMAN
5-aminolevulinate synthase, nonspec...
ALAS1
237Annotation 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>
H7C5B0H7C5B0_HUMAN
5-aminolevulinate synthase, nonspec...
ALAS1
117Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA68506 differs from that shown. Reason: Frameshift.Curated

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 conflicti2E → D in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti6R → G in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti43P → Q in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti47A → G in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti56 – 57QQ → HK in CAA68506 (PubMed:3671094).Curated2
Sequence conflicti69K → Q in CAA68506 (PubMed:3671094).Curated1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02592595 – 118HPLPA…QMNQR → FRLDTPCLPQARALQANALS WQHR in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_025924119 – 640Missing in isoform 2. 1 PublicationAdd BLAST522

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X56351 mRNA Translation: CAA39794.1
Y00451 mRNA Translation: CAA68506.1 Frameshift.
AB063322 mRNA Translation: BAB93514.1
BC011798 mRNA Translation: AAH11798.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2847.1 [P13196-1]

Protein sequence database of the Protein Information Resource

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PIRi
S13682, SYHUAL

NCBI Reference Sequences

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RefSeqi
NP_000679.1, NM_000688.5 [P13196-1]
NP_001291372.1, NM_001304443.1 [P13196-1]
NP_001291373.1, NM_001304444.1
NP_954635.1, NM_199166.2 [P13196-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000310271; ENSP00000309259; ENSG00000023330 [P13196-1]
ENST00000394965; ENSP00000378416; ENSG00000023330 [P13196-1]
ENST00000469224; ENSP00000417719; ENSG00000023330 [P13196-1]
ENST00000484952; ENSP00000418779; ENSG00000023330 [P13196-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
211

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:211

Keywords - Coding sequence diversityi

Alternative splicing

<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
X56351 mRNA Translation: CAA39794.1
Y00451 mRNA Translation: CAA68506.1 Frameshift.
AB063322 mRNA Translation: BAB93514.1
BC011798 mRNA Translation: AAH11798.1
CCDSiCCDS2847.1 [P13196-1]
PIRiS13682, SYHUAL
RefSeqiNP_000679.1, NM_000688.5 [P13196-1]
NP_001291372.1, NM_001304443.1 [P13196-1]
NP_001291373.1, NM_001304444.1
NP_954635.1, NM_199166.2 [P13196-1]

3D structure databases

SMRiP13196
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi106713, 68 interactors
IntActiP13196, 70 interactors
MINTiP13196
STRINGi9606.ENSP00000378416

Chemistry databases

DrugBankiDB00145, Glycine
DB00114, Pyridoxal phosphate

PTM databases

iPTMnetiP13196
MetOSiteiP13196
PhosphoSitePlusiP13196

Polymorphism and mutation databases

BioMutaiALAS1
DMDMi122824

Proteomic databases

EPDiP13196
jPOSTiP13196
MassIVEiP13196
PaxDbiP13196
PeptideAtlasiP13196
PRIDEiP13196
ProteomicsDBi52898 [P13196-1]
52899 [P13196-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
4303, 275 antibodies

The DNASU plasmid repository

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DNASUi
211

Genome annotation databases

EnsembliENST00000310271; ENSP00000309259; ENSG00000023330 [P13196-1]
ENST00000394965; ENSP00000378416; ENSG00000023330 [P13196-1]
ENST00000469224; ENSP00000417719; ENSG00000023330 [P13196-1]
ENST00000484952; ENSP00000418779; ENSG00000023330 [P13196-1]
GeneIDi211
KEGGihsa:211

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
211
DisGeNETi211
EuPathDBiHostDB:ENSG00000023330.14

GeneCards: human genes, protein and diseases

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GeneCardsi
ALAS1
HGNCiHGNC:396, ALAS1
HPAiENSG00000023330, Tissue enhanced (adrenal gland, liver)
MIMi125290, gene
neXtProtiNX_P13196
OpenTargetsiENSG00000023330
PharmGKBiPA24688

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1360, Eukaryota
GeneTreeiENSGT00940000156030
HOGENOMiCLU_015846_6_1_1
InParanoidiP13196
KOiK00643
OMAiRRKHQRN
OrthoDBi930001at2759
PhylomeDBiP13196
TreeFamiTF300724

Enzyme and pathway databases

UniPathwayiUPA00251;UER00375
BioCyciMetaCyc:HS00424-MONOMER
BRENDAi2.3.1.37, 2681
PathwayCommonsiP13196
ReactomeiR-HSA-189451, Heme biosynthesis
R-HSA-1989781, PPARA activates gene expression
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
211, 38 hits in 874 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ALAS1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ALAS1

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

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GenomeRNAii
211
PharosiP13196, Tbio

Protein Ontology

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PROi
PR:P13196
RNActiP13196, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000023330, Expressed in right adrenal gland and 237 other tissues
ExpressionAtlasiP13196, baseline and differential
GenevisibleiP13196, HS

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
InterProiView protein in InterPro
IPR010961, 4pyrrol_synth_NH2levulA_synth
IPR015118, 5aminolev_synth_preseq
IPR001917, Aminotrans_II_pyridoxalP_BS
IPR004839, Aminotransferase_I/II
IPR015424, PyrdxlP-dep_Trfase
IPR015422, PyrdxlP-dep_Trfase_dom1
IPR015421, PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00155, Aminotran_1_2, 1 hit
PF09029, Preseq_ALAS, 1 hit
SUPFAMiSSF53383, SSF53383, 1 hit
TIGRFAMsiTIGR01821, 5aminolev_synth, 1 hit
PROSITEiView protein in PROSITE
PS00599, AA_TRANSFER_CLASS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 nameiHEM1_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: P13196
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: August 1, 1991
Last modified: August 12, 2020
This is version 205 of the entry and version 2 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

Reference proteome

Documents

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