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Protein

Fatty aldehyde dehydrogenase

Gene

ALDH3A2

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

Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).3 Publications

<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 ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=50 µM for hexanal1 Publication
  2. KM=32 µM for octanal1 Publication
  3. KM=23 µM for decanal1 Publication
  4. KM=19 µM for dodecanal1 Publication
  5. KM=23 µM for tetradecanal1 Publication
  6. KM=32 µM for hexadecanal1 Publication
  7. KM=21 µM for octadecanal1 Publication
  8. KM=280 µM for NAD1 Publication
  9. KM=8700 µM for NADp1 Publication
  1. Vmax=29 µmol/min/mg enzyme with hexanal1 Publication
  2. Vmax=63 µmol/min/mg enzyme with octanal1 Publication
  3. Vmax=73 µmol/min/mg enzyme with decanal1 Publication
  4. Vmax=45 µmol/min/mg enzyme with dodecanal1 Publication
  5. Vmax=40 µmol/min/mg enzyme with hexadecanal1 Publication
  6. Vmax=46 µmol/min/mg enzyme with octadecanal1 Publication
  7. Vmax=42 µmol/min/mg enzyme with tetradecanal1 Publication

pH dependencei

Optimum pH is 9.8.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei207PROSITE-ProRule annotation1 Publication1
Active sitei241PROSITE-ProRule annotation1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi185 – 190NADSequence analysis6

<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 functionOxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS01061-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-389599 Alpha-oxidation of phytanate

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P51648

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000198

<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:
Fatty aldehyde dehydrogenase (EC:1.2.1.33 Publications)
Alternative name(s):
Aldehyde dehydrogenase 101 Publication
Aldehyde dehydrogenase family 3 member A2
Microsomal aldehyde dehydrogenase
<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:ALDH3A2
Synonyms:ALDH101 Publication, FALDH1 Publication
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000072210.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:403 ALDH3A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609523 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51648

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 463CytoplasmicAdd BLAST463
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei464 – 484HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

<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

Sjoegren-Larsson syndrome (SLS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.
See also OMIM:270200
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_01751045I → F in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_01751164V → D in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547556EnsemblClinVar.1
Natural variantiVAR_002249106L → R in SLS; severe loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs72547558Ensembl.1
Natural variantiVAR_017512114P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547559Ensembl.1
Natural variantiVAR_017513121P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547560Ensembl.1
Natural variantiVAR_017514184T → M in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547562EnsemblClinVar.1
Natural variantiVAR_017515184T → R in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017516185G → A in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547563Ensembl.1
Natural variantiVAR_002250214C → Y in SLS; 4% of activity. 1 PublicationCorresponds to variant dbSNP:rs72547564EnsemblClinVar.1
Natural variantiVAR_002251226C → W in SLS. 1 PublicationCorresponds to variant dbSNP:rs72547565Ensembl.1
Natural variantiVAR_017517228R → C in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547566EnsemblClinVar.1
Natural variantiVAR_017518237C → Y in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547567Ensembl.1
Natural variantiVAR_002252245D → N in SLS; severe loss of activity; originally thought to be a neutral polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs72547568EnsemblClinVar.1
Natural variantiVAR_017519266K → N in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability. 1 PublicationCorresponds to variant dbSNP:rs72547569EnsemblClinVar.1
Natural variantiVAR_017520279Y → N in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547570EnsemblClinVar.1
Natural variantiVAR_002253314 – 315AP → GAKSTVGA in SLS; 8% of activity. 1 Publication2
Natural variantiVAR_002254315P → S in SLS; common mutation in Europeans; severe loss of enzymatic activity. 3 PublicationsCorresponds to variant dbSNP:rs72547571EnsemblClinVar.1
Natural variantiVAR_017521328M → I in SLS. 1 PublicationCorresponds to variant dbSNP:rs72547572EnsemblClinVar.1
Natural variantiVAR_002255365S → L in SLS; severe loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs72547573EnsemblClinVar.1
Natural variantiVAR_017522386N → S in SLS. 1 PublicationCorresponds to variant dbSNP:rs72547575EnsemblClinVar.1
Natural variantiVAR_017523406G → R in SLS. 1 Publication1
Natural variantiVAR_017524411H → Y in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_002256412G → R in SLS. 1 PublicationCorresponds to variant dbSNP:rs778115541Ensembl.1
Natural variantiVAR_017525415S → N in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017526419F → S in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547576Ensembl.1
Natural variantiVAR_017527423R → H in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs768290318Ensembl.1
Natural variantiVAR_017528447K → E in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs67939114Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi112N → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi207E → Q: Loss of enzyme activity. 1 Publication1
Mutagenesisi241C → S: Loss of enzyme activity. 1 Publication1
Mutagenesisi331E → Q: Loss of enzyme activity. 1 Publication1
Mutagenesisi410Y → F: Decreased enzyme activity with dodecanal and hexadecanal. No effect on enzyme activity with octanal. 1 Publication1
Mutagenesisi445 – 485Missing : Decreased enzyme activity with dodecanal. Strongly decreased enzyme activity with hexadecanal. No effect on enzyme activity with octanal. 1 PublicationAdd BLAST41

Keywords - Diseasei

Disease mutation, Ichthyosis, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
224

MalaCards human disease database

More...
MalaCardsi
ALDH3A2
MIMi270200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000072210

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

More...
Orphaneti
816 Sjoegren-Larsson syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24698

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALDH3A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1706379

<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_00000564731 – 485Fatty aldehyde dehydrogenaseAdd BLAST485

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 residuei293PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P51648

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51648

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

More...
PaxDbi
P51648

PeptideAtlas

More...
PeptideAtlasi
P51648

PRoteomics IDEntifications database

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PRIDEi
P51648

ProteomicsDB human proteome resource

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ProteomicsDBi
56356
56357 [P51648-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51648

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

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PhosphoSitePlusi
P51648

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P51648

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in liver (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000072210 Expressed in 232 organ(s), highest expression level in adrenal gland

CleanEx database of gene expression profiles

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CleanExi
HS_ALDH3A2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51648 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51648 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB020692
HPA014769

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106726, 74 interactors

Protein interaction database and analysis system

More...
IntActi
P51648, 58 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000345774

<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

Secondary structure

1485
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QGKX-ray2.10A/B1-460[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P51648

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

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SMRi
P51648

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 aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2456 Eukaryota
COG1012 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157944

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000271515

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050483

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51648

KEGG Orthology (KO)

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KOi
K00128

Identification of Orthologs from Complete Genome Data

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OMAi
PLGCVLI

Database of Orthologous Groups

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OrthoDBi
646662at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51648

TreeFam database of animal gene trees

More...
TreeFami
TF314264

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.309.10, 1 hit
3.40.605.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
IPR012394 Aldehyde_DH_NAD(P)

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00171 Aldedh, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF036492 ALDH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53720 SSF53720, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 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 (2+)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 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.<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 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51648-1) [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
MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC
60 70 80 90 100
KSEFNVYSQE VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ
110 120 130 140 150
PLGVVLIIGA WNYPFVLTIQ PLIGAIAAGN AVIIKPSELS ENTAKILAKL
160 170 180 190 200
LPQYLDQDLY IVINGGVEET TELLKQRFDH IFYTGNTAVG KIVMEAAAKH
210 220 230 240 250
LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT CIAPDYILCE
260 270 280 290 300
ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
310 320 330 340 350
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN
360 370 380 390 400
FINEREKPLA LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG
410 420 430 440 450
GVGSSGMGAY HGKHSFDTFS HQRPCLLKSL KREGANKLRY PPNSQSKVDW
460 470 480
GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV KAEYY
Length:485
Mass (Da):54,848
Last modified:October 1, 1996 - 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:i209601CB5803C7E3
GO
Isoform 2 (identifier: P51648-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     482-485: AEYY → KYQAVLRRKALLIFLVVHRLRWSSKQR

Show »
Length:508
Mass (Da):57,669
Checksum:iDC5AEB20D8B85388
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRD1J3QRD1_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
393Annotation 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>
I3L1M4I3L1M4_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
162Annotation 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>
J3QS00J3QS00_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
134Annotation 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>
I3L4G6I3L4G6_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
85Annotation 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>
J3QQV9J3QQV9_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
58Annotation 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>
C9JGJ2C9JGJ2_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
166Annotation 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>
I3L2W1I3L2W1_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
97Annotation 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>
J3KTD9J3KTD9_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
62Annotation 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>
I3L0X1I3L0X1_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
182Annotation 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>
J3KTG1J3KTG1_HUMAN
Fatty aldehyde dehydrogenase
ALDH3A2
146Annotation 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>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01751045I → F in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_01751164V → D in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547556EnsemblClinVar.1
Natural variantiVAR_002249106L → R in SLS; severe loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs72547558Ensembl.1
Natural variantiVAR_017512114P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547559Ensembl.1
Natural variantiVAR_017513121P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547560Ensembl.1
Natural variantiVAR_017514184T → M in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547562EnsemblClinVar.1
Natural variantiVAR_017515184T → R in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017516185G → A in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547563Ensembl.1
Natural variantiVAR_002250214C → Y in SLS; 4% of activity. 1 PublicationCorresponds to variant dbSNP:rs72547564EnsemblClinVar.1
Natural variantiVAR_002251226C → W in SLS. 1 PublicationCorresponds to variant dbSNP:rs72547565Ensembl.1
Natural variantiVAR_017517228R → C in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547566EnsemblClinVar.1
Natural variantiVAR_017518237C → Y in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547567Ensembl.1
Natural variantiVAR_002252245D → N in SLS; severe loss of activity; originally thought to be a neutral polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs72547568EnsemblClinVar.1
Natural variantiVAR_017519266K → N in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability. 1 PublicationCorresponds to variant dbSNP:rs72547569EnsemblClinVar.1
Natural variantiVAR_017520279Y → N in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547570EnsemblClinVar.1
Natural variantiVAR_002253314 – 315AP → GAKSTVGA in SLS; 8% of activity. 1 Publication2
Natural variantiVAR_002254315P → S in SLS; common mutation in Europeans; severe loss of enzymatic activity. 3 PublicationsCorresponds to variant dbSNP:rs72547571EnsemblClinVar.1
Natural variantiVAR_017521328M → I in SLS. 1 PublicationCorresponds to variant dbSNP:rs72547572EnsemblClinVar.1
Natural variantiVAR_002255365S → L in SLS; severe loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs72547573EnsemblClinVar.1
Natural variantiVAR_017522386N → S in SLS. 1 PublicationCorresponds to variant dbSNP:rs72547575EnsemblClinVar.1
Natural variantiVAR_017523406G → R in SLS. 1 Publication1
Natural variantiVAR_017524411H → Y in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_002256412G → R in SLS. 1 PublicationCorresponds to variant dbSNP:rs778115541Ensembl.1
Natural variantiVAR_017525415S → N in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017526419F → S in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547576Ensembl.1
Natural variantiVAR_017527423R → H in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs768290318Ensembl.1
Natural variantiVAR_017528447K → E in SLS; severe loss of activity. 1 PublicationCorresponds to variant dbSNP:rs67939114Ensembl.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_001283482 – 485AEYY → KYQAVLRRKALLIFLVVHRL RWSSKQR in isoform 2. 2 Publications4

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L47162 mRNA Translation: AAB01003.1
U75296
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA Translation: AAC50966.1
U75295
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA Translation: AAC50965.1
U46689 mRNA Translation: AAC51121.1
AK292381 mRNA Translation: BAF85070.1
AK315096 mRNA Translation: BAG37560.1
CR457422 mRNA Translation: CAG33703.1
CH471212 Genomic DNA Translation: EAW50898.1
BC002430 mRNA Translation: AAH02430.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11210.1 [P51648-1]
CCDS32589.1 [P51648-2]

NCBI Reference Sequences

More...
RefSeqi
NP_000373.1, NM_000382.2 [P51648-1]
NP_001026976.1, NM_001031806.1 [P51648-2]
XP_011522034.1, XM_011523732.1 [P51648-2]
XP_011522035.1, XM_011523733.1 [P51648-2]
XP_016879845.1, XM_017024356.1 [P51648-1]
XP_016879846.1, XM_017024357.1 [P51648-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.499886

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000176643; ENSP00000176643; ENSG00000072210 [P51648-1]
ENST00000339618; ENSP00000345774; ENSG00000072210 [P51648-2]
ENST00000395575; ENSP00000378942; ENSG00000072210 [P51648-1]
ENST00000579855; ENSP00000463637; ENSG00000072210 [P51648-1]
ENST00000581518; ENSP00000461916; ENSG00000072210 [P51648-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
224

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:224

UCSC genome browser

More...
UCSCi
uc002gwa.2 human [P51648-1]

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
L47162 mRNA Translation: AAB01003.1
U75296
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA Translation: AAC50966.1
U75295
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA Translation: AAC50965.1
U46689 mRNA Translation: AAC51121.1
AK292381 mRNA Translation: BAF85070.1
AK315096 mRNA Translation: BAG37560.1
CR457422 mRNA Translation: CAG33703.1
CH471212 Genomic DNA Translation: EAW50898.1
BC002430 mRNA Translation: AAH02430.1
CCDSiCCDS11210.1 [P51648-1]
CCDS32589.1 [P51648-2]
RefSeqiNP_000373.1, NM_000382.2 [P51648-1]
NP_001026976.1, NM_001031806.1 [P51648-2]
XP_011522034.1, XM_011523732.1 [P51648-2]
XP_011522035.1, XM_011523733.1 [P51648-2]
XP_016879845.1, XM_017024356.1 [P51648-1]
XP_016879846.1, XM_017024357.1 [P51648-1]
UniGeneiHs.499886

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QGKX-ray2.10A/B1-460[»]
ProteinModelPortaliP51648
SMRiP51648
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106726, 74 interactors
IntActiP51648, 58 interactors
STRINGi9606.ENSP00000345774

Chemistry databases

DrugBankiDB00157 NADH
SwissLipidsiSLP:000000198

PTM databases

iPTMnetiP51648
PhosphoSitePlusiP51648
SwissPalmiP51648

Polymorphism and mutation databases

BioMutaiALDH3A2
DMDMi1706379

Proteomic databases

EPDiP51648
jPOSTiP51648
PaxDbiP51648
PeptideAtlasiP51648
PRIDEiP51648
ProteomicsDBi56356
56357 [P51648-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
224
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000176643; ENSP00000176643; ENSG00000072210 [P51648-1]
ENST00000339618; ENSP00000345774; ENSG00000072210 [P51648-2]
ENST00000395575; ENSP00000378942; ENSG00000072210 [P51648-1]
ENST00000579855; ENSP00000463637; ENSG00000072210 [P51648-1]
ENST00000581518; ENSP00000461916; ENSG00000072210 [P51648-2]
GeneIDi224
KEGGihsa:224
UCSCiuc002gwa.2 human [P51648-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
224
DisGeNETi224
EuPathDBiHostDB:ENSG00000072210.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALDH3A2
HGNCiHGNC:403 ALDH3A2
HPAiCAB020692
HPA014769
MalaCardsiALDH3A2
MIMi270200 phenotype
609523 gene
neXtProtiNX_P51648
OpenTargetsiENSG00000072210
Orphaneti816 Sjoegren-Larsson syndrome
PharmGKBiPA24698

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2456 Eukaryota
COG1012 LUCA
GeneTreeiENSGT00940000157944
HOGENOMiHOG000271515
HOVERGENiHBG050483
InParanoidiP51648
KOiK00128
OMAiPLGCVLI
OrthoDBi646662at2759
PhylomeDBiP51648
TreeFamiTF314264

Enzyme and pathway databases

BioCyciMetaCyc:HS01061-MONOMER
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-389599 Alpha-oxidation of phytanate
SABIO-RKiP51648

Miscellaneous databases

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

More...
ChiTaRSi
ALDH3A2 human

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

More...
GenomeRNAii
224

Protein Ontology

More...
PROi
PR:P51648

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000072210 Expressed in 232 organ(s), highest expression level in adrenal gland
CleanExiHS_ALDH3A2
ExpressionAtlasiP51648 baseline and differential
GenevisibleiP51648 HS

Family and domain databases

Gene3Di3.40.309.10, 1 hit
3.40.605.10, 1 hit
InterProiView protein in InterPro
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
IPR012394 Aldehyde_DH_NAD(P)
PfamiView protein in Pfam
PF00171 Aldedh, 1 hit
PIRSFiPIRSF036492 ALDH, 1 hit
SUPFAMiSSF53720 SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiAL3A2_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: P51648
Secondary accession number(s): Q6I9T3, Q93011, Q96J37
<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: October 1, 1996
Last sequence update: October 1, 1996
Last modified: January 16, 2019
This is version 184 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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