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Protein

Hephaestin-like protein 1

Gene

HEPHL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May function as a ferroxidase and may be involved in copper transport and homeostasis.By similarity

Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

GO - Molecular functioni

  • copper ion binding Source: InterPro
  • ferroxidase activity Source: MGI
  • oxidoreductase activity, oxidizing metal ions Source: GO_Central

GO - Biological processi

  • copper ion transport Source: UniProtKB-KW
  • oxidation-reduction process Source: MGI

Keywordsi

Molecular functionOxidoreductase
Biological processCopper transport, Ion transport, Transport
LigandCopper, Metal-binding

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Hephaestin-like protein 1 (EC:1.-.-.-)
Gene namesi
Name:HEPHL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000181333.11
HGNCiHGNC:30477 HEPHL1
neXtProtiNX_Q6MZM0

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
Topological domaini25 – 1114ExtracellularSequence analysisAdd BLAST1090
Transmembranei1115 – 1135HelicalSequence analysisAdd BLAST21
Topological domaini1136 – 1159CytoplasmicSequence analysisAdd BLAST24

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi341208
OpenTargetsiENSG00000181333
PharmGKBiPA134873144

Polymorphism and mutation databases

BioMutaiHEPHL1
DMDMi205785679

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000034677125 – 1159Hephaestin-like protein 1Add BLAST1135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi181 ↔ 207Sequence analysis
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi285 ↔ 366Sequence analysis
Glycosylationi407N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi535 ↔ 561Sequence analysis
Glycosylationi589N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi638 ↔ 719Sequence analysis
Glycosylationi772N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi881 ↔ 907Sequence analysis
Glycosylationi935N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6MZM0
PeptideAtlasiQ6MZM0
PRIDEiQ6MZM0
ProteomicsDBi66573

PTM databases

iPTMnetiQ6MZM0
PhosphoSitePlusiQ6MZM0

Expressioni

Gene expression databases

BgeeiENSG00000181333 Expressed in 29 organ(s), highest expression level in vagina
CleanExiHS_HEPHL1

Organism-specific databases

HPAiHPA031517

Interactioni

Protein-protein interaction databases

BioGridi131121, 31 interactors
STRINGi9606.ENSP00000313699

Structurei

3D structure databases

ProteinModelPortaliQ6MZM0
SMRiQ6MZM0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi1124 – 1127Poly-Leu4

Sequence similaritiesi

Belongs to the multicopper oxidase family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1263 Eukaryota
COG2132 LUCA
GeneTreeiENSGT00910000143988
HOGENOMiHOG000231499
HOVERGENiHBG003674
InParanoidiQ6MZM0
OMAiMVPPGKN
OrthoDBiEOG091G00QL
PhylomeDBiQ6MZM0
TreeFamiTF329807

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

Sequencei

Sequence statusi: Complete.

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
Checksum:iEC89C2ED620FAB3E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_045904381R → C. Corresponds to variant dbSNP:rs12291622Ensembl.1

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
UniGeneiHs.669645

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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
UniGeneiHs.669645

3D structure databases

ProteinModelPortaliQ6MZM0
SMRiQ6MZM0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131121, 31 interactors
STRINGi9606.ENSP00000313699

Protein family/group databases

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

PTM databases

iPTMnetiQ6MZM0
PhosphoSitePlusiQ6MZM0

Polymorphism and mutation databases

BioMutaiHEPHL1
DMDMi205785679

Proteomic databases

PaxDbiQ6MZM0
PeptideAtlasiQ6MZM0
PRIDEiQ6MZM0
ProteomicsDBi66573

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi341208
DisGeNETi341208
EuPathDBiHostDB:ENSG00000181333.11
GeneCardsiHEPHL1
H-InvDBiHIX0128665
HIX0153752
HGNCiHGNC:30477 HEPHL1
HPAiHPA031517
neXtProtiNX_Q6MZM0
OpenTargetsiENSG00000181333
PharmGKBiPA134873144
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1263 Eukaryota
COG2132 LUCA
GeneTreeiENSGT00910000143988
HOGENOMiHOG000231499
HOVERGENiHBG003674
InParanoidiQ6MZM0
OMAiMVPPGKN
OrthoDBiEOG091G00QL
PhylomeDBiQ6MZM0
TreeFamiTF329807

Miscellaneous databases

ChiTaRSiHEPHL1 human
GenomeRNAii341208
PROiPR:Q6MZM0

Gene expression databases

BgeeiENSG00000181333 Expressed in 29 organ(s), highest expression level in vagina
CleanExiHS_HEPHL1

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
ProtoNetiSearch...

Entry informationi

Entry nameiHPHL1_HUMAN
AccessioniPrimary (citable) accession number: Q6MZM0
Secondary accession number(s): Q3C1W7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: November 7, 2018
This is version 113 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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