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Protein

Hephaestin-like protein 1

Gene

HEPHL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi127 – 1271Copper 1; type 2By similarity
Metal bindingi129 – 1291Copper 2; type 3By similarity
Metal bindingi187 – 1871Copper 2; type 3By similarity
Metal bindingi189 – 1891Copper 3; type 3By similarity
Metal bindingi304 – 3041Copper 4; type 1By similarity
Metal bindingi347 – 3471Copper 4; type 1By similarity
Metal bindingi352 – 3521Copper 4; type 1By similarity
Metal bindingi657 – 6571Copper 5; type 1By similarity
Metal bindingi700 – 7001Copper 5; type 1By similarity
Metal bindingi705 – 7051Copper 5; type 1By similarity
Metal bindingi710 – 7101Copper 5; type 1By similarity
Metal bindingi1003 – 10031Copper 6; type 1By similarity
Metal bindingi1006 – 10061Copper 1; type 2By similarity
Metal bindingi1008 – 10081Copper 3; type 3By similarity
Metal bindingi1048 – 10481Copper 3; type 3By similarity
Metal bindingi1049 – 10491Copper 6; type 1By similarity
Metal bindingi1050 – 10501Copper 2; type 3By similarity
Metal bindingi1054 – 10541Copper 6; type 1By similarity
Metal bindingi1059 – 10591Copper 6; type 1By similarity

GO - Molecular functioni

  • copper ion binding Source: InterPro
  • ferroxidase activity Source: MGI

GO - Biological processi

  • copper ion transport Source: UniProtKB-KW
  • oxidation-reduction process Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Copper transport, Ion transport, Transport

Keywords - Ligandi

Copper, Metal-binding

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

HGNCiHGNC:30477. HEPHL1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 11141090ExtracellularSequence analysisAdd
BLAST
Transmembranei1115 – 113521HelicalSequence analysisAdd
BLAST
Topological domaini1136 – 115924CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134873144.

Polymorphism and mutation databases

BioMutaiHEPHL1.
DMDMi205785679.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence analysisAdd
BLAST
Chaini25 – 11591135Hephaestin-like protein 1PRO_0000346771Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence analysis
Disulfide bondi181 ↔ 207Sequence analysis
Glycosylationi236 – 2361N-linked (GlcNAc...)Sequence analysis
Disulfide bondi285 ↔ 366Sequence analysis
Glycosylationi407 – 4071N-linked (GlcNAc...)Sequence analysis
Disulfide bondi535 ↔ 561Sequence analysis
Glycosylationi589 – 5891N-linked (GlcNAc...)Sequence analysis
Disulfide bondi638 ↔ 719Sequence analysis
Glycosylationi772 – 7721N-linked (GlcNAc...)Sequence analysis
Disulfide bondi881 ↔ 907Sequence analysis
Glycosylationi935 – 9351N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6MZM0.
PRIDEiQ6MZM0.

PTM databases

iPTMnetiQ6MZM0.
PhosphoSiteiQ6MZM0.

Expressioni

Gene expression databases

BgeeiQ6MZM0.
CleanExiHS_HEPHL1.

Organism-specific databases

HPAiHPA031517.

Interactioni

Protein-protein interaction databases

BioGridi131121. 25 interactions.
STRINGi9606.ENSP00000313699.

Structurei

3D structure databases

ProteinModelPortaliQ6MZM0.
SMRiQ6MZM0. Positions 26-1065.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini25 – 207183Plastocyanin-like 1Add
BLAST
Domaini218 – 366149Plastocyanin-like 2Add
BLAST
Domaini379 – 561183Plastocyanin-like 3Add
BLAST
Domaini571 – 719149Plastocyanin-like 4Add
BLAST
Domaini731 – 907177Plastocyanin-like 5Add
BLAST
Domaini915 – 1092178Plastocyanin-like 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1124 – 11274Poly-Leu

Sequence similaritiesi

Belongs to the multicopper oxidase family.Curated
Contains 6 plastocyanin-like domains.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1263. Eukaryota.
COG2132. LUCA.
GeneTreeiENSGT00550000074552.
HOGENOMiHOG000231499.
HOVERGENiHBG003674.
InParanoidiQ6MZM0.
OMAiLVCKKGV.
OrthoDBiEOG7V49XN.
PhylomeDBiQ6MZM0.
TreeFamiTF329807.

Family and domain databases

Gene3Di2.60.40.420. 6 hits.
InterProiIPR011706. Cu-oxidase_2.
IPR011707. Cu-oxidase_3.
IPR033138. Cu_oxidase_CS.
IPR002355. Cu_oxidase_Cu_BS.
IPR008972. Cupredoxin.
[Graphical view]
PfamiPF07731. Cu-oxidase_2. 2 hits.
PF07732. Cu-oxidase_3. 3 hits.
[Graphical view]
SUPFAMiSSF49503. SSF49503. 6 hits.
PROSITEiPS00079. MULTICOPPER_OXIDASE1. 3 hits.
PS00080. MULTICOPPER_OXIDASE2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti553 – 5531G → A in BAE46880 (Ref. 2) Curated
Sequence conflicti697 – 6971R → G in CAE46009 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti251 – 2511N → D.
Corresponds to variant rs1945783 [ dbSNP | Ensembl ].
VAR_045903
Natural varianti381 – 3811R → C.
Corresponds to variant rs12291622 [ dbSNP | Ensembl ].
VAR_045904

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

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. Positions 26-1065.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131121. 25 interactions.
STRINGi9606.ENSP00000313699.

PTM databases

iPTMnetiQ6MZM0.
PhosphoSiteiQ6MZM0.

Polymorphism and mutation databases

BioMutaiHEPHL1.
DMDMi205785679.

Proteomic databases

PaxDbiQ6MZM0.
PRIDEiQ6MZM0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi341208.
GeneCardsiHEPHL1.
H-InvDBHIX0128665.
HIX0153752.
HGNCiHGNC:30477. HEPHL1.
HPAiHPA031517.
neXtProtiNX_Q6MZM0.
PharmGKBiPA134873144.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1263. Eukaryota.
COG2132. LUCA.
GeneTreeiENSGT00550000074552.
HOGENOMiHOG000231499.
HOVERGENiHBG003674.
InParanoidiQ6MZM0.
OMAiLVCKKGV.
OrthoDBiEOG7V49XN.
PhylomeDBiQ6MZM0.
TreeFamiTF329807.

Miscellaneous databases

GenomeRNAii341208.
NextBioi98087.
PROiQ6MZM0.

Gene expression databases

BgeeiQ6MZM0.
CleanExiHS_HEPHL1.

Family and domain databases

Gene3Di2.60.40.420. 6 hits.
InterProiIPR011706. Cu-oxidase_2.
IPR011707. Cu-oxidase_3.
IPR033138. Cu_oxidase_CS.
IPR002355. Cu_oxidase_Cu_BS.
IPR008972. Cupredoxin.
[Graphical view]
PfamiPF07731. Cu-oxidase_2. 2 hits.
PF07732. Cu-oxidase_3. 3 hits.
[Graphical view]
SUPFAMiSSF49503. SSF49503. 6 hits.
PROSITEiPS00079. MULTICOPPER_OXIDASE1. 3 hits.
PS00080. MULTICOPPER_OXIDASE2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Totoki Y., Yada T., Sakaki Y., Takeda T.
    Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 469-559.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 697-1159.
    Tissue: Esophageal carcinoma.

Entry informationi

Entry nameiHPHL1_HUMAN
AccessioniPrimary (citable) accession number: Q6MZM0
Secondary accession number(s): Q3C1W7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: March 16, 2016
This is version 98 of the entry and version 2 of the sequence. [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. 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.