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Entry version 125 (12 Aug 2020)
Sequence version 2 (02 Sep 2008)
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Protein

Ferroxidase HEPHL1

Gene

HEPHL1

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

Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe2+ to Fe3+ without releasing radical oxygen species (PubMed:31125343). May be involved in the regulation of intracellular iron content (PubMed:31125343).1 Publication

<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

Cu cation1 PublicationNote: Binds 6 Cu cations per monomer.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi127Copper 1; type 2By similarity1
Metal bindingi129Copper 2; type 3By similarity1
Metal bindingi187Copper 2; type 3By similarity1
Metal bindingi189Copper 3; type 3By similarity1
Metal bindingi304Copper 4; type 1By similarity1
Metal bindingi347Copper 4; type 1By similarity1
Metal bindingi352Copper 4; type 1By similarity1
Metal bindingi657Copper 5; type 1By similarity1
Metal bindingi700Copper 5; type 1By similarity1
Metal bindingi705Copper 5; type 1By similarity1
Metal bindingi710Copper 5; type 1By similarity1
Metal bindingi1003Copper 6; type 1By similarity1
Metal bindingi1006Copper 1; type 2By similarity1
Metal bindingi1008Copper 3; type 3By similarity1
Metal bindingi1048Copper 3; type 3By similarity1
Metal bindingi1049Copper 6; type 1By similarity1
Metal bindingi1050Copper 2; type 3By similarity1
Metal bindingi1054Copper 6; type 1By similarity1
Metal bindingi1059Copper 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

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, Transport
LigandCopper, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6MZM0

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.105.1.3, 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%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:
Ferroxidase HEPHL1Curated (EC:1.16.3.11 Publication)
Alternative name(s):
Hephaestin-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HEPHL1
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000181333.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30477, HEPHL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
618455, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6MZM0

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini25 – 1114ExtracellularSequence analysisAdd BLAST1090
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei1115 – 1135HelicalSequence analysisAdd BLAST21
Topological domaini1136 – 1159CytoplasmicSequence analysisAdd BLAST24

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

<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

Abnormal hair, joint laxity, and developmental delay (HJDD)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa.
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_082699271 – 355Missing in HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del but also normally spliced transcripts corresponding to protein variant T-355; loss of ferroxidase activity. 1 PublicationAdd BLAST85
Natural variantiVAR_082700355A → T in HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain normally spliced transcripts corresponding to protein variant T-355 but also transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del. 1 Publication1
Natural variantiVAR_0827011059M → T in HJDD; loss of ferroxidase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
341208

MalaCards human disease database

More...
MalaCardsi
HEPHL1
MIMi261990, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000181333

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134873144

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6MZM0, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09130, Copper

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HEPHL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
205785679

<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 – 24Sequence analysisAdd BLAST24
<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_000034677125 – 1159Ferroxidase HEPHL1Add BLAST1135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi161N-linked (GlcNAc...) asparagine1 Publication1
<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 bondi181 ↔ 207Sequence analysis
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi285 ↔ 366Sequence analysis
Glycosylationi407N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi535 ↔ 561Sequence analysis
Glycosylationi589N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi638 ↔ 719Sequence analysis
Glycosylationi772N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi881 ↔ 907Sequence analysis
Glycosylationi935N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6MZM0

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

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PaxDbi
Q6MZM0

PeptideAtlas

More...
PeptideAtlasi
Q6MZM0

PRoteomics IDEntifications database

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PRIDEi
Q6MZM0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
66573

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q6MZM0, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6MZM0

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

More...
PhosphoSitePlusi
Q6MZM0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000181333, Expressed in tonsil and 36 other tissues

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000181333, Tissue enriched (tongue)

<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
131121, 31 interactors

Protein interaction database and analysis system

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IntActi
Q6MZM0, 26 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000313699

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6MZM0, protein

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

3D structure databases

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

More...
SMRi
Q6MZM0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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>Domaini25 – 207Plastocyanin-like 1Add BLAST183
Domaini218 – 366Plastocyanin-like 2Add BLAST149
Domaini379 – 561Plastocyanin-like 3Add BLAST183
Domaini571 – 719Plastocyanin-like 4Add BLAST149
Domaini731 – 907Plastocyanin-like 5Add BLAST177
Domaini915 – 1092Plastocyanin-like 6Add BLAST178

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1124 – 1127Poly-Leu4

<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

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157994

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_005569_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6MZM0

Identification of Orthologs from Complete Genome Data

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OMAi
AVNGYMY

Database of Orthologous Groups

More...
OrthoDBi
454773at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6MZM0

TreeFam database of animal gene trees

More...
TreeFami
TF329807

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07731, Cu-oxidase_2, 2 hits
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%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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

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

Q6MZM0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPRKQPAGCI FLLTFLGLSG LVGTVTRTYY IGIVEEYWNY VPQGKNVITG
60 70 80 90 100
KSFTEDKLAT LFLERGPNRI GSIYKKAVYR RFTDGTYSIE IPKPPWLGFL
110 120 130 140 150
GPILRAEVGD VIVIHLKNFA SRPYSLHPHG VFYNKDSEGA LYPDGTSGRN
160 170 180 190 200
KNDDMVPPGK NYTYVWPVRE EYAPTPADAN CLTWVYHSHI DAPKDICSGL
210 220 230 240 250
IGPLLVCKEG ILNRYSGTRN DVDREFVIMF TLVDENQSWY LNENIKHFCT
260 270 280 290 300
NPDSVDKKDA VFQRSNKMHA LNGYLFGNFP EPDMCVGESV SWHLFGMGNE
310 320 330 340 350
IDIHSIYFYG NTFISRGHRT DVVNLFPATF LTTEMIAENP GKWMITCQVS
360 370 380 390 400
DHLQAGMLGQ YNVDNCKSDI FYPKMKGQQR RYFIAAEKIL WDYAPQGYNK
410 420 430 440 450
FSGLPLNASG SDSDLYFTQG DNRIGGKYWK VRYTEFVDAT FTKRKRLSAE
460 470 480 490 500
EAHLGILGPV IKAEVGDTLL VTFANKADKV YSILPHGVIY DKASDAAPNL
510 520 530 540 550
DGFVKPGAHV KPGETFTYKW TVPESVSPTA GDPPCLTYLY FSAVDPIKDT
560 570 580 590 600
SSGLVGPLLV CKKGVLNADG TQKGIDKEFY LLFTVFDENL SRYFDENIQK
610 620 630 640 650
FIWHPFSIDK EDKEFVKSNR MHAVNGYMYG NQPGLNMCKR DRVSWHLIGL
660 670 680 690 700
GTDTDMHGIV FQGNTIHLRG THRDSLALFP HMATTAFMQP DHAGIFRVFC
710 720 730 740 750
ATMPHLSRGM GQIYEVSSCD NRDPSEQRYG MIRTFYIAAE EVEWDYAPNK
760 770 780 790 800
NWEFEKQHVD ARGERHGDIF MNRTENWIGS QYKKVVYREY TDGEFVEIKA
810 820 830 840 850
RPPREEHLEL LGPMIHAEVG NTVLIIFKNK ASRPYSISAQ GVEEMDSGKQ
860 870 880 890 900
FQVPMTKPGE VKTYRWNIPK RSGPGPSDPN CIPWVYYSTV NFVKDTYSGL
910 920 930 940 950
MGPLITCRKG VLNEKGRRSD VDYEFALLFL VFNENESWYL DDNIKKYLNK
960 970 980 990 1000
DPRDFKRTDD FEESNRMHAI NGKIFGNLHG LIMNEDTMTN WYLLGIGSEV
1010 1020 1030 1040 1050
DIHTIHYHAE SFLFKIDKSY REDVYDLFPG TFQTIELFAD HPGTWLLHCH
1060 1070 1080 1090 1100
VSDHIHAGME TTYTVLRNID NRIPYSTTSP GVASHPATVP SNERPGKEQL
1110 1120 1130 1140 1150
YFFGKNLGPT GAKAALVILF IIGLLLLITT VILSLRLCSA MKQTDYQQVQ

SCALPTDAL
Length:1,159
Mass (Da):131,603
Last modified:September 2, 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:iEC89C2ED620FAB3E
GO

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 conflicti553G → A in BAE46880 (Ref. 2) Curated1
Sequence conflicti697R → G in CAE46009 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045903251N → D. Corresponds to variant dbSNP:rs1945783Ensembl.1
Natural variantiVAR_082699271 – 355Missing in HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del but also normally spliced transcripts corresponding to protein variant T-355; loss of ferroxidase activity. 1 PublicationAdd BLAST85
Natural variantiVAR_082700355A → T in HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain normally spliced transcripts corresponding to protein variant T-355 but also transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del. 1 Publication1
Natural variantiVAR_045904381R → C. Corresponds to variant dbSNP:rs12291622Ensembl.1
Natural variantiVAR_0827011059M → T in HJDD; loss of ferroxidase activity. 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
AP002795 Genomic DNA No translation available.
AB231719 mRNA Translation: BAE46880.1
BX641008 mRNA Translation: CAE46009.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS44710.1

NCBI Reference Sequences

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RefSeqi
NP_001092142.1, NM_001098672.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000315765; ENSP00000313699; ENSG00000181333

Database of genes from NCBI RefSeq genomes

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GeneIDi
341208

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:341208

UCSC genome browser

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UCSCi
uc001pep.3, human

Keywords - Coding sequence diversityi

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
AP002795 Genomic DNA No translation available.
AB231719 mRNA Translation: BAE46880.1
BX641008 mRNA Translation: CAE46009.1
CCDSiCCDS44710.1
RefSeqiNP_001092142.1, NM_001098672.1

3D structure databases

SMRiQ6MZM0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi131121, 31 interactors
IntActiQ6MZM0, 26 interactors
STRINGi9606.ENSP00000313699

Chemistry databases

DrugBankiDB09130, Copper

Protein family/group databases

TCDBi8.A.105.1.3, the multi-copper-containing ferrooxidase (mcfo) family

PTM databases

GlyGeniQ6MZM0, 6 sites
iPTMnetiQ6MZM0
PhosphoSitePlusiQ6MZM0

Polymorphism and mutation databases

BioMutaiHEPHL1
DMDMi205785679

Proteomic databases

MassIVEiQ6MZM0
PaxDbiQ6MZM0
PeptideAtlasiQ6MZM0
PRIDEiQ6MZM0
ProteomicsDBi66573

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31604, 65 antibodies

Genome annotation databases

EnsembliENST00000315765; ENSP00000313699; ENSG00000181333
GeneIDi341208
KEGGihsa:341208
UCSCiuc001pep.3, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
341208
DisGeNETi341208
EuPathDBiHostDB:ENSG00000181333.11

GeneCards: human genes, protein and diseases

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GeneCardsi
HEPHL1
HGNCiHGNC:30477, HEPHL1
HPAiENSG00000181333, Tissue enriched (tongue)
MalaCardsiHEPHL1
MIMi261990, phenotype
618455, gene
neXtProtiNX_Q6MZM0
OpenTargetsiENSG00000181333
PharmGKBiPA134873144

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1263, Eukaryota
GeneTreeiENSGT00940000157994
HOGENOMiCLU_005569_0_0_1
InParanoidiQ6MZM0
OMAiAVNGYMY
OrthoDBi454773at2759
PhylomeDBiQ6MZM0
TreeFamiTF329807

Enzyme and pathway databases

PathwayCommonsiQ6MZM0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
341208, 3 hits in 866 CRISPR screens

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

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ChiTaRSi
HEPHL1, human

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

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GenomeRNAii
341208
PharosiQ6MZM0, Tbio

Protein Ontology

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PROi
PR:Q6MZM0
RNActiQ6MZM0, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000181333, Expressed in tonsil and 36 other tissues

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
PfamiView protein in Pfam
PF07731, Cu-oxidase_2, 2 hits
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

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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 nameiHPHL1_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: Q6MZM0
Secondary accession number(s): Q3C1W7
<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: September 2, 2008
Last sequence update: September 2, 2008
Last modified: August 12, 2020
This is version 125 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. SIMILARITY comments
    Index of protein domains and families
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