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Protein

Hephaestin

Gene

HEPH

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

May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.

<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

Cu cationBy similarityNote: Binds 6 Cu cations per monomer.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi126Copper 1; type 2By similarity1
Metal bindingi128Copper 2; type 3By similarity1
Metal bindingi186Copper 2; type 3By similarity1
Metal bindingi188Copper 3; type 3By similarity1
Metal bindingi304Copper 4; type 1By similarity1
Metal bindingi347Copper 4; type 1By similarity1
Metal bindingi352Copper 4; type 1By similarity1
Metal bindingi656Copper 5; type 1By similarity1
Metal bindingi699Copper 5; type 1By similarity1
Metal bindingi704Copper 5; type 1By similarity1
Metal bindingi709Copper 5; type 1By similarity1
Metal bindingi1000Copper 6; type 1By similarity1
Metal bindingi1003Copper 1; type 2By similarity1
Metal bindingi1005Copper 3; type 3By similarity1
Metal bindingi1045Copper 3; type 3By similarity1
Metal bindingi1046Copper 6; type 1By similarity1
Metal bindingi1047Copper 2; type 3By similarity1
Metal bindingi1051Copper 6; type 1By similarity1
Metal bindingi1056Copper 6; type 1By 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

  • copper ion binding Source: UniProtKB
  • ferrous iron binding Source: UniProtKB
  • ferroxidase activity Source: UniProtKB
  • oxidoreductase activity, oxidizing metal ions Source: GO_Central

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 processCopper transport, Ion transport, Iron transport, Transport
LigandCopper, Iron, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-425410 Metal ion SLC transporters
R-HSA-917937 Iron uptake and transport

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.105.1.1 the multi-copper-containing ferrooxidase (mcfo) family

<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:
Hephaestin (EC:1.-.-.-)
<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:HEPH
Synonyms:KIAA0698
ORF Names:UNQ2562/PRO6242
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000089472.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4866 HEPH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300167 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BQS7

<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 domaini24 – 1110ExtracellularSequence analysisAdd BLAST1087
<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>Transmembranei1111 – 1131HelicalSequence analysisAdd BLAST21
Topological domaini1132 – 1158CytoplasmicSequence analysisAdd BLAST27

Keywords - Cellular componenti

Membrane

<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
9843

Open Targets

More...
OpenTargetsi
ENSG00000089472

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29241

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HEPH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
52782976

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<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_000000291524 – 1158HephaestinAdd BLAST1135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi180 ↔ 206Sequence analysis
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi285 ↔ 366Sequence analysis
Disulfide bondi534 ↔ 560Sequence analysis
Glycosylationi588N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi637 ↔ 718Sequence analysis
Glycosylationi714N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi758N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi829N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi873N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi877 ↔ 903Sequence analysis
Glycosylationi931N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei1145PhosphoserineCombined sources1
Modified residuei1150PhosphoserineCombined sources1
Modified residuei1155PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BQS7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BQS7

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

More...
PaxDbi
Q9BQS7

PeptideAtlas

More...
PeptideAtlasi
Q9BQS7

PRoteomics IDEntifications database

More...
PRIDEi
Q9BQS7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78716
78717 [Q9BQS7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BQS7

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

More...
PhosphoSitePlusi
Q9BQS7

<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 breast, colon, bone trabecular cells and fibroblasts.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000089472 Expressed in 204 organ(s), highest expression level in colon

CleanEx database of gene expression profiles

More...
CleanExi
HS_HEPH

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BQS7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BQS7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA005824

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115179, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000430620

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9BQS7

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

More...
SMRi
Q9BQS7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini24 – 206Plastocyanin-like 1Add BLAST183
Domaini218 – 366Plastocyanin-like 2Add BLAST149
Domaini379 – 560Plastocyanin-like 3Add BLAST182
Domaini570 – 718Plastocyanin-like 4Add BLAST149
Domaini731 – 903Plastocyanin-like 5Add BLAST173
Domaini911 – 1087Plastocyanin-like 6Add BLAST177

<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 multicopper oxidase family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1263 Eukaryota
COG2132 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158517

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231499

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG003674

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BQS7

KEGG Orthology (KO)

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KOi
K14735

Identification of Orthologs from Complete Genome Data

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OMAi
KDSYGHI

Database of Orthologous Groups

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OrthoDBi
454773at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BQS7

TreeFam database of animal gene trees

More...
TreeFami
TF329807

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.420, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011706 Cu-oxidase_2
IPR011707 Cu-oxidase_3
IPR033138 Cu_oxidase_CS
IPR002355 Cu_oxidase_Cu_BS
IPR008972 Cupredoxin
IPR027154 HEPH

The PANTHER Classification System

More...
PANTHERi
PTHR44048:SF1 PTHR44048:SF1, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07731 Cu-oxidase_2, 1 hit
PF07732 Cu-oxidase_3, 3 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49503 SSF49503, 6 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00079 MULTICOPPER_OXIDASE1, 3 hits
PS00080 MULTICOPPER_OXIDASE2, 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 (4+)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.

<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 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 4 <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 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BQS7-1) [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
MESGHLLWAL LFMQSLWPQL TDGATRVYYL GIRDVQWNYA PKGRNVITNQ
60 70 80 90 100
PLDSDIVASS FLKSDKNRIG GTYKKTIYKE YKDDSYTDEV AQPAWLGFLG
110 120 130 140 150
PVLQAEVGDV ILIHLKNFAT RPYTIHPHGV FYEKDSEGSL YPDGSSGPLK
160 170 180 190 200
ADDSVPPGGS HIYNWTIPEG HAPTDADPAC LTWIYHSHVD APRDIATGLI
210 220 230 240 250
GPLITCKRGA LDGNSPPQRQ DVDHDFFLLF SVVDENLSWH LNENIATYCS
260 270 280 290 300
DPASVDKEDE TFQESNRMHA INGFVFGNLP ELNMCAQKRV AWHLFGMGNE
310 320 330 340 350
IDVHTAFFHG QMLTTRGHHT DVANIFPATF VTAEMVPWEP GTWLISCQVN
360 370 380 390 400
SHFRDGMQAL YKVKSCSMAP PVDLLTGKVR QYFIEAHEIQ WDYGPMGHDG
410 420 430 440 450
STGKNLREPG SISDKFFQKS SSRIGGTYWK VRYEAFQDET FQEKMHLEED
460 470 480 490 500
RHLGILGPVI RAEVGDTIQV VFYNRASQPF SMQPHGVFYE KDYEGTVYND
510 520 530 540 550
GSSYPGLVAK PFEKVTYRWT VPPHAGPTAQ DPACLTWMYF SAADPIRDTN
560 570 580 590 600
SGLVGPLLVC RAGALGADGK QKGVDKEFFL LFTVLDENKS WYSNANQAAA
610 620 630 640 650
MLDFRLLSED IEGFQDSNRM HAINGFLFSN LPRLDMCKGD TVAWHLLGLG
660 670 680 690 700
TETDVHGVMF QGNTVQLQGM RKGAAMLFPH TFVMAIMQPD NLGTFEIYCQ
710 720 730 740 750
AGSHREAGMR AIYNVSQCPG HQATPRQRYQ AARIYYIMAE EVEWDYCPDR
760 770 780 790 800
SWEREWHNQS EKDSYGYIFL SNKDGLLGSR YKKAVFREYT DGTFRIPRPR
810 820 830 840 850
TGPEEHLGIL GPLIKGEVGD ILTVVFKNNA SRPYSVHAHG VLESTTVWPL
860 870 880 890 900
AAEPGEVVTY QWNIPERSGP GPNDSACVSW IYYSAVDPIK DMYSGLVGPL
910 920 930 940 950
AICQKGILEP HGGRSDMDRE FALLFLIFDE NKSWYLEENV ATHGSQDPGS
960 970 980 990 1000
INLQDETFLE SNKMHAINGK LYANLRGLTM YQGERVAWYM LAMGQDVDLH
1010 1020 1030 1040 1050
TIHFHAESFL YRNGENYRAD VVDLFPGTFE VVEMVASNPG TWLMHCHVTD
1060 1070 1080 1090 1100
HVHAGMETLF TVFSRTEHLS PLTVITKETE KAVPPRDIEE GNVKMLGMQI
1110 1120 1130 1140 1150
PIKNVEMLAS VLVAISVTLL LVVLALGGVV WYQHRQRKLR RNRRSILDDS

FKLLSFKQ
Length:1,158
Mass (Da):130,449
Last modified:September 27, 2004 - v3
<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:iCD032199E2E2868D
GO
Isoform 2 (identifier: Q9BQS7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1082-1082: Missing.

Show »
Length:1,157
Mass (Da):130,378
Checksum:i3DCFE053093BFA7D
GO
Isoform 3 (identifier: Q9BQS7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTQTLPYHLSLLNVLFPGPCSRHFKFRRGKCAQPAWRKVSAPSQDLLITKVMWAM

Note: No experimental confirmation available.
Show »
Length:1,212
Mass (Da):136,658
Checksum:i9C03D79DAE69BA8C
GO
Isoform 4 (identifier: Q9BQS7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-267: Missing.

Note: No experimental confirmation available.
Show »
Length:891
Mass (Da):100,624
Checksum:iAB70D0436109C5B2
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DG76A0A0C4DG76_HUMAN
Hephaestin, isoform CRA_c
HEPH hCG_18329
1,160Annotation 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>
E7ES21E7ES21_HUMAN
Hephaestin
HEPH
969Annotation 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>
Q5JZ07Q5JZ07_HUMAN
Hephaestin
HEPH
208Annotation 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>
Q5JZ08Q5JZ08_HUMAN
Hephaestin
HEPH
811Annotation 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>
F8WBZ8F8WBZ8_HUMAN
Hephaestin
HEPH
63Annotation 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 AAQ89349 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAX05385 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAX05388 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti55 – 56DI → QR in BAA31673 (PubMed:9734811).Curated2
Sequence conflicti222V → T in CAC35365 (PubMed:11932491).Curated1

Natural variant

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_024379595A → T. Corresponds to variant dbSNP:rs17216603Ensembl.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_0473321 – 267Missing in isoform 4. CuratedAdd BLAST267
Alternative sequenceiVSP_0473311M → MTQTLPYHLSLLNVLFPGPC SRHFKFRRGKCAQPAWRKVS APSQDLLITKVMWAM in isoform 3. Curated1
Alternative sequenceiVSP_0116271082Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ296162 mRNA Translation: CAC35365.2
AF148860 mRNA Translation: AAK08131.1
AY358990 mRNA Translation: AAQ89349.1 Different initiation.
AL030998 Genomic DNA No translation available.
AL157698 Genomic DNA No translation available.
CH471132 Genomic DNA Translation: EAX05384.1
CH471132 Genomic DNA Translation: EAX05385.1 Different initiation.
CH471132 Genomic DNA Translation: EAX05386.1
CH471132 Genomic DNA Translation: EAX05388.1 Different initiation.
BC011561 mRNA Translation: AAH11561.1
AB014598 mRNA Translation: BAA31673.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14384.3 [Q9BQS7-3]
CCDS14385.1 [Q9BQS7-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001124332.1, NM_001130860.3
NP_001269070.1, NM_001282141.1
NP_055614.1, NM_014799.3 [Q9BQS7-4]
NP_620074.3, NM_138737.4 [Q9BQS7-3]
XP_006724785.1, XM_006724722.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.31720

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000336279; ENSP00000337418; ENSG00000089472 [Q9BQS7-4]
ENST00000343002; ENSP00000343939; ENSG00000089472 [Q9BQS7-1]
ENST00000519389; ENSP00000430620; ENSG00000089472 [Q9BQS7-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9843

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9843

UCSC genome browser

More...
UCSCi
uc004dwn.5 human [Q9BQS7-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Hephaestin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ296162 mRNA Translation: CAC35365.2
AF148860 mRNA Translation: AAK08131.1
AY358990 mRNA Translation: AAQ89349.1 Different initiation.
AL030998 Genomic DNA No translation available.
AL157698 Genomic DNA No translation available.
CH471132 Genomic DNA Translation: EAX05384.1
CH471132 Genomic DNA Translation: EAX05385.1 Different initiation.
CH471132 Genomic DNA Translation: EAX05386.1
CH471132 Genomic DNA Translation: EAX05388.1 Different initiation.
BC011561 mRNA Translation: AAH11561.1
AB014598 mRNA Translation: BAA31673.2
CCDSiCCDS14384.3 [Q9BQS7-3]
CCDS14385.1 [Q9BQS7-4]
RefSeqiNP_001124332.1, NM_001130860.3
NP_001269070.1, NM_001282141.1
NP_055614.1, NM_014799.3 [Q9BQS7-4]
NP_620074.3, NM_138737.4 [Q9BQS7-3]
XP_006724785.1, XM_006724722.1
UniGeneiHs.31720

3D structure databases

ProteinModelPortaliQ9BQS7
SMRiQ9BQS7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115179, 1 interactor
STRINGi9606.ENSP00000430620

Protein family/group databases

TCDBi8.A.105.1.1 the multi-copper-containing ferrooxidase (mcfo) family

PTM databases

iPTMnetiQ9BQS7
PhosphoSitePlusiQ9BQS7

Polymorphism and mutation databases

BioMutaiHEPH
DMDMi52782976

Proteomic databases

jPOSTiQ9BQS7
MaxQBiQ9BQS7
PaxDbiQ9BQS7
PeptideAtlasiQ9BQS7
PRIDEiQ9BQS7
ProteomicsDBi78716
78717 [Q9BQS7-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9843
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336279; ENSP00000337418; ENSG00000089472 [Q9BQS7-4]
ENST00000343002; ENSP00000343939; ENSG00000089472 [Q9BQS7-1]
ENST00000519389; ENSP00000430620; ENSG00000089472 [Q9BQS7-3]
GeneIDi9843
KEGGihsa:9843
UCSCiuc004dwn.5 human [Q9BQS7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9843
DisGeNETi9843
EuPathDBiHostDB:ENSG00000089472.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HEPH

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0016844
HGNCiHGNC:4866 HEPH
HPAiHPA005824
MIMi300167 gene
neXtProtiNX_Q9BQS7
OpenTargetsiENSG00000089472
PharmGKBiPA29241

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1263 Eukaryota
COG2132 LUCA
GeneTreeiENSGT00940000158517
HOGENOMiHOG000231499
HOVERGENiHBG003674
InParanoidiQ9BQS7
KOiK14735
OMAiKDSYGHI
OrthoDBi454773at2759
PhylomeDBiQ9BQS7
TreeFamiTF329807

Enzyme and pathway databases

ReactomeiR-HSA-425410 Metal ion SLC transporters
R-HSA-917937 Iron uptake and transport

Miscellaneous databases

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

More...
GenomeRNAii
9843

Protein Ontology

More...
PROi
PR:Q9BQS7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000089472 Expressed in 204 organ(s), highest expression level in colon
CleanExiHS_HEPH
ExpressionAtlasiQ9BQS7 baseline and differential
GenevisibleiQ9BQS7 HS

Family and domain databases

Gene3Di2.60.40.420, 5 hits
InterProiView protein in InterPro
IPR011706 Cu-oxidase_2
IPR011707 Cu-oxidase_3
IPR033138 Cu_oxidase_CS
IPR002355 Cu_oxidase_Cu_BS
IPR008972 Cupredoxin
IPR027154 HEPH
PANTHERiPTHR44048:SF1 PTHR44048:SF1, 1 hit
PfamiView protein in Pfam
PF07731 Cu-oxidase_2, 1 hit
PF07732 Cu-oxidase_3, 3 hits
SUPFAMiSSF49503 SSF49503, 6 hits
PROSITEiView protein in PROSITE
PS00079 MULTICOPPER_OXIDASE1, 3 hits
PS00080 MULTICOPPER_OXIDASE2, 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 nameiHEPH_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: Q9BQS7
Secondary accession number(s): B1AJX8
, D3DVT7, E9PHN8, O75180, Q6UW45, Q9C058
<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: September 27, 2004
Last sequence update: September 27, 2004
Last modified: January 16, 2019
This is version 153 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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