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Entry version 174 (12 Aug 2020)
Sequence version 2 (16 Dec 2008)
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Protein

FAD-linked sulfhydryl oxidase ALR

Gene

GFER

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

FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen.6 Publications
May act as an autocrine hepatotrophic growth factor promoting liver regeneration.

<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

FADPROSITE-ProRule annotation2 Publications

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 sitei111FAD1 Publication1
Binding sitei140FAD1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi99 – 107FAD1 Publication9
Nucleotide bindingi171 – 183FAD1 PublicationAdd BLAST13
Nucleotide bindingi194 – 195FAD1 Publication2

<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 functionGrowth factor, Oxidoreductase
LigandFAD, Flavoprotein

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.8.3.2, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P55789

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1268020, Mitochondrial protein import

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P55789

<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:
FAD-linked sulfhydryl oxidase ALR (EC:1.8.3.2)
Alternative name(s):
Augmenter of liver regeneration
Short name:
hERV1
Hepatopoietin
<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:GFER
Synonyms:ALR, HERV1, HPO
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127554.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4236, GFER

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600924, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P55789

<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

Cytoplasm, Mitochondrion, Secreted

<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

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.
Related information in OMIM
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_063435194R → H in MPMCHD; less stable than the wild-type protein within the mitochondria, increased rate of dissociation of FAD by about 45-fold. 2 PublicationsCorresponds to variant dbSNP:rs121908192EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
2671

MalaCards human disease database

More...
MalaCardsi
GFER
MIMi613076, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000127554

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

More...
Orphaneti
330054, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28648

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P55789, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1741189

Drug and drug target database

More...
DrugBanki
DB03147, Flavin adenine dinucleotide

DrugCentral

More...
DrugCentrali
P55789

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GFER

Domain mapping of disease mutations (DMDM)

More...
DMDMi
218511915

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002085481 – 205FAD-linked sulfhydryl oxidase ALRAdd BLAST205

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 residuei59PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi95Interchain (with C-204)
Disulfide bondi142 ↔ 145Redox-active
Disulfide bondi171 ↔ 188
Disulfide bondi204Interchain (with C-95)

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P55789

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P55789

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P55789

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P55789

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

More...
PaxDbi
P55789

PeptideAtlas

More...
PeptideAtlasi
P55789

PRoteomics IDEntifications database

More...
PRIDEi
P55789

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56865 [P55789-1]
56866 [P55789-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P55789

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
P55789

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

More...
PhosphoSitePlusi
P55789

<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

Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000127554, Expressed in dorsal plus ventral thalamus and 189 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P55789, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P55789, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000127554, Low tissue specificity

<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; disulfide-linked. May form heterodimers of isoform 1 and isoform 2 (PubMed:12180965, PubMed:20593814, PubMed:21383138, PubMed:22224850).

Interacts with CHCHD4/MIA40 (PubMed:23676665, PubMed:21383138).

5 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
108939, 63 interactors

Protein interaction database and analysis system

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IntActi
P55789, 28 interactors

Molecular INTeraction database

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MINTi
P55789

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000248114

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P55789, 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

Secondary structure

1205
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P55789

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P55789

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini95 – 195ERV/ALR sulfhydryl oxidasePROSITE-ProRule annotationAdd BLAST101

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3355, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001979

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_070631_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P55789

KEGG Orthology (KO)

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KOi
K17783

Identification of Orthologs from Complete Genome Data

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OMAi
KPCRSCT

Database of Orthologous Groups

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OrthoDBi
1537996at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P55789

TreeFam database of animal gene trees

More...
TreeFami
TF105271

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.120.310, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039799, ALR/ERV
IPR036774, ERV/ALR_sulphydryl_oxid_sf
IPR017905, ERV/ALR_sulphydryl_oxidase

The PANTHER Classification System

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PANTHERi
PTHR12645, PTHR12645, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF04777, Evr1_Alr, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF69000, SSF69000, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51324, ERV_ALR, 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.

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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P55789-1) [UniParc]FASTAAdd to basket
Also known as: HPO-205, lfALR

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
MAAPGERGRF HGGNLFFLPG GARSEMMDDL ATDARGRGAG RRDAAASAST
60 70 80 90 100
PAQAPTSDSP VAEDASRRRP CRACVDFKTW MRTQQKRDTK FREDCPPDRE
110 120 130 140 150
ELGRHSWAVL HTLAAYYPDL PTPEQQQDMA QFIHLFSKFY PCEECAEDLR
160 170 180 190 200
KRLCRNHPDT RTRACFTQWL CHLHNEVNRK LGKPDFDCSK VDERWRDGWK

DGSCD
Length:205
Mass (Da):23,449
Last modified:December 16, 2008 - 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:i43CBF8CCB5BA91C8
GO
Isoform 2 (identifier: P55789-2) [UniParc]FASTAAdd to basket
Also known as: HPO-125, sfALR

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.

Show »
Length:125
Mass (Da):15,029
Checksum:i3F0B927DC64EF606
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRD2H3BRD2_HUMAN
Sulfhydryl oxidase
GFER
139Annotation score:

Annotation score:2 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>
H3BQQ4H3BQQ4_HUMAN
Sulfhydryl oxidase
GFER hCG_42694
130Annotation score:

Annotation score:2 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>
H3BRW3H3BRW3_HUMAN
FAD-linked sulfhydryl oxidase ALR
GFER
109Annotation 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 AAA96390 differs from that shown. Reason: Frameshift.Curated
The sequence AAD36986 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAD56538 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH02429 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH28348 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti30L → S in AAA96390 (PubMed:10712775).Curated1
Sequence conflicti127Q → R in AAG38105 (Ref. 3) Curated1
Sequence conflicti180K → E in AAG38105 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061994166F → L. Corresponds to variant dbSNP:rs36041021EnsemblClinVar.1
Natural variantiVAR_063435194R → H in MPMCHD; less stable than the wild-type protein within the mitochondria, increased rate of dissociation of FAD by about 45-fold. 2 PublicationsCorresponds to variant dbSNP:rs121908192EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0403931 – 80Missing in isoform 2. 2 PublicationsAdd BLAST80

Sequence databases

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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
AF183892 Genomic DNA Translation: AAD56538.1 Different initiation.
AF124604 mRNA Translation: AAD17328.1
AF306863 mRNA Translation: AAG38105.1
AY550027 mRNA Translation: AAS55642.1
AC005606 Genomic DNA No translation available.
BC002429 mRNA Translation: AAH02429.1 Different initiation.
BC028348 mRNA Translation: AAH28348.2 Different initiation.
AF146394 Genomic DNA Translation: AAD36986.1 Different initiation.
U31176 mRNA Translation: AAA96390.2 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32368.1 [P55789-1]

NCBI Reference Sequences

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RefSeqi
NP_005253.3, NM_005262.2 [P55789-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000248114; ENSP00000248114; ENSG00000127554 [P55789-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2671

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2671

UCSC genome browser

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UCSCi
uc002cob.4, human [P55789-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF183892 Genomic DNA Translation: AAD56538.1 Different initiation.
AF124604 mRNA Translation: AAD17328.1
AF306863 mRNA Translation: AAG38105.1
AY550027 mRNA Translation: AAS55642.1
AC005606 Genomic DNA No translation available.
BC002429 mRNA Translation: AAH02429.1 Different initiation.
BC028348 mRNA Translation: AAH28348.2 Different initiation.
AF146394 Genomic DNA Translation: AAD36986.1 Different initiation.
U31176 mRNA Translation: AAA96390.2 Frameshift.
CCDSiCCDS32368.1 [P55789-1]
RefSeqiNP_005253.3, NM_005262.2 [P55789-1]

3D structure databases

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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
3MBGX-ray1.85A/B/C81-205[»]
3O55X-ray1.90A81-205[»]
3TK0X-ray1.61A81-205[»]
3U2LX-ray1.95A91-205[»]
3U2MX-ray2.00A91-205[»]
3U5SX-ray1.50A82-203[»]
4LDKX-ray2.04A81-205[»]
SMRiP55789
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108939, 63 interactors
IntActiP55789, 28 interactors
MINTiP55789
STRINGi9606.ENSP00000248114

Chemistry databases

ChEMBLiCHEMBL1741189
DrugBankiDB03147, Flavin adenine dinucleotide
DrugCentraliP55789

PTM databases

iPTMnetiP55789
MetOSiteiP55789
PhosphoSitePlusiP55789

Polymorphism and mutation databases

BioMutaiGFER
DMDMi218511915

Proteomic databases

EPDiP55789
jPOSTiP55789
MassIVEiP55789
MaxQBiP55789
PaxDbiP55789
PeptideAtlasiP55789
PRIDEiP55789
ProteomicsDBi56865 [P55789-1]
56866 [P55789-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
42516, 256 antibodies

Genome annotation databases

EnsembliENST00000248114; ENSP00000248114; ENSG00000127554 [P55789-1]
GeneIDi2671
KEGGihsa:2671
UCSCiuc002cob.4, human [P55789-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2671
DisGeNETi2671
EuPathDBiHostDB:ENSG00000127554.12

GeneCards: human genes, protein and diseases

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GeneCardsi
GFER
HGNCiHGNC:4236, GFER
HPAiENSG00000127554, Low tissue specificity
MalaCardsiGFER
MIMi600924, gene
613076, phenotype
neXtProtiNX_P55789
OpenTargetsiENSG00000127554
Orphaneti330054, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
PharmGKBiPA28648

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3355, Eukaryota
GeneTreeiENSGT00390000001979
HOGENOMiCLU_070631_1_1_1
InParanoidiP55789
KOiK17783
OMAiKPCRSCT
OrthoDBi1537996at2759
PhylomeDBiP55789
TreeFamiTF105271

Enzyme and pathway databases

BRENDAi1.8.3.2, 2681
PathwayCommonsiP55789
ReactomeiR-HSA-1268020, Mitochondrial protein import
SIGNORiP55789

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
2671, 528 hits in 885 CRISPR screens
EvolutionaryTraceiP55789

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GFER

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

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GenomeRNAii
2671
PharosiP55789, Tchem

Protein Ontology

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PROi
PR:P55789
RNActiP55789, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000127554, Expressed in dorsal plus ventral thalamus and 189 other tissues
ExpressionAtlasiP55789, baseline and differential
GenevisibleiP55789, HS

Family and domain databases

Gene3Di1.20.120.310, 1 hit
InterProiView protein in InterPro
IPR039799, ALR/ERV
IPR036774, ERV/ALR_sulphydryl_oxid_sf
IPR017905, ERV/ALR_sulphydryl_oxidase
PANTHERiPTHR12645, PTHR12645, 1 hit
PfamiView protein in Pfam
PF04777, Evr1_Alr, 1 hit
SUPFAMiSSF69000, SSF69000, 1 hit
PROSITEiView protein in PROSITE
PS51324, ERV_ALR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALR_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: P55789
Secondary accession number(s): Q53YM6
, Q8TAH6, Q9H290, Q9UK40
<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: November 1, 1997
Last sequence update: December 16, 2008
Last modified: August 12, 2020
This is version 174 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  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
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