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Protein

Hephaestin

Gene

Heph

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 bindingi655Copper 5; type 1By similarity1
Metal bindingi698Copper 5; type 1By similarity1
Metal bindingi703Copper 5; type 1By similarity1
Metal bindingi708Copper 5; type 1By similarity1
Metal bindingi999Copper 6; type 1By similarity1
Metal bindingi1002Copper 1; type 2By similarity1
Metal bindingi1004Copper 3; type 3By similarity1
Metal bindingi1044Copper 3; type 3By similarity1
Metal bindingi1045Copper 6; type 1By similarity1
Metal bindingi1046Copper 2; type 3By similarity1
Metal bindingi1050Copper 6; type 1By similarity1
Metal bindingi1055Copper 6; type 1By similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Copper transport, Ion transport, Iron transport, Transport

Keywords - Ligandi

Copper, Iron, Metal-binding

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Hephaestin (EC:1.-.-.-)
Gene namesi
Name:Heph
Synonyms:Kiaa0698
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome X

Organism-specific databases

MGIiMGI:1332240. Heph.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 1109ExtracellularSequence analysisAdd BLAST1091
Transmembranei1110 – 1130HelicalSequence analysisAdd BLAST21
Topological domaini1131 – 1157CytoplasmicSequence analysisAdd BLAST27

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Heph are a cause of the sex-linked anemia (sla) that is characterized by moderate to severe microcytic hypochronic anemia.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000291619 – 1157HephaestinAdd BLAST1139

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi49N-linked (GlcNAc...)Sequence analysis1
Glycosylationi54N-linked (GlcNAc...)Sequence analysis1
Glycosylationi164N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi180 ↔ 206Sequence analysis
Glycosylationi236N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi285 ↔ 366Sequence analysis
Disulfide bondi533 ↔ 559Sequence analysis
Glycosylationi587N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi636 ↔ 717Sequence analysis
Glycosylationi713N-linked (GlcNAc...)Sequence analysis1
Glycosylationi757N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi876 ↔ 902Sequence analysis
Glycosylationi930N-linked (GlcNAc...)Sequence analysis1
Modified residuei1144PhosphoserineCombined sources1
Modified residuei1149PhosphoserineCombined sources1
Modified residuei1154PhosphoserineCombined sources1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9Z0Z4.
PeptideAtlasiQ9Z0Z4.
PRIDEiQ9Z0Z4.

PTM databases

iPTMnetiQ9Z0Z4.
PhosphoSitePlusiQ9Z0Z4.

Expressioni

Gene expression databases

BgeeiENSMUSG00000031209.
CleanExiMM_HEPH.
ExpressionAtlasiQ9Z0Z4. baseline and differential.
GenevisibleiQ9Z0Z4. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000033553.

Structurei

3D structure databases

ProteinModelPortaliQ9Z0Z4.
SMRiQ9Z0Z4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 206Plastocyanin-like 1Add BLAST183
Domaini218 – 366Plastocyanin-like 2Add BLAST149
Domaini379 – 559Plastocyanin-like 3Add BLAST181
Domaini569 – 717Plastocyanin-like 4Add BLAST149
Domaini730 – 902Plastocyanin-like 5Add BLAST173
Domaini910 – 1086Plastocyanin-like 6Add BLAST177

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.
InParanoidiQ9Z0Z4.
KOiK14735.
OMAiLIHLKNF.
OrthoDBiEOG091G00QL.
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.
IPR027154. HEPH.
[Graphical view]
PANTHERiPTHR10127:SF622. PTHR10127:SF622. 1 hit.
PfamiPF07731. Cu-oxidase_2. 1 hit.
PF07732. Cu-oxidase_3. 3 hits.
[Graphical view]
SUPFAMiSSF49503. SSF49503. 6 hits.
PROSITEiPS00079. MULTICOPPER_OXIDASE1. 3 hits.
PS00080. MULTICOPPER_OXIDASE2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Z0Z4-1) [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
MKAGHLLWAL LLMHSLWSIP TDGAIRNYYL GIQDMQWNYA PKGRNVITNQ
60 70 80 90 100
TLNNDTVASS FLKSGKNRIG SSYKKTVYKE YSDGTYTEEI AKPAWLGFLG
110 120 130 140 150
PLLQAEVGDV ILIHLKNFAS RPYTIHPHGV FYEKDSEGSL YPDGSSGYLK
160 170 180 190 200
ADDSVPPGGS HVYNWSIPES HAPTEADPAC LTWIYHSHVD APRDIATGLI
210 220 230 240 250
GPLITCKRGT LDGNSPPQRK DVDHNFFLLF SVIDENLSWH LDDNIATYCS
260 270 280 290 300
DPASVDKEDG AFQDSNRMHA INGFVFGNLP ELSMCAQKHV AWHLFGMGNE
310 320 330 340 350
IDVHTAFFHG QMLSIRGHHT DVANIFPATF VTAEMVPQKS GTWLISCEVN
360 370 380 390 400
SHLRSGMQAF YKVDSCSMDP PVDQLTGKVR QYFIQAHEIQ WDYGPIGYDG
410 420 430 440 450
RTGKSLREPG SGPDKYFQKS SSRIGGTYWK VRYEAFQDET FQERVHQEEE
460 470 480 490 500
THLGILGPVI RAEVGDTIQV VFYNRASQPF SIQPHGVFYE KNSEGTVYND
510 520 530 540 550
GTSHPKVAKS FEKVTYYWTV PPHAGPTAQD PACLTWMYFS AADPTRDTNS
560 570 580 590 600
GLVGPLLVCK AGALGADGKQ KGVDKEFFLL FTVFDENESW YNNANQAAGM
610 620 630 640 650
LDSRLLSEDV EGFQDSNRMH AINGFLFSNL PRLDMCKGDT VAWHLLGLGT
660 670 680 690 700
ETDVHGVMFE GNTVQLQGMR KGAVMLFPHT FVTAIMQPDN PGIFEIYCQA
710 720 730 740 750
GSHREEGMQA IYNVSQCSSH QDSPRQHYQA SRVYYIMAEE IEWDYCPDRS
760 770 780 790 800
WELEWHNTSE KDSYGHVFLS NKDGLLGSKY KKAVFREYTD GTFRIPRPRS
810 820 830 840 850
GPEEHLGILG PLIRGEVGDI LTVVFKNKAS RPYSIHAHGV LESNTGGPQA
860 870 880 890 900
AEPGEVLTYQ WNIPERSGPG PSDSACVSWI YYSAVDPIKD MYSGLVGPLV
910 920 930 940 950
ICRNGILEPN GGRNDMDREF ALLFLIFDEN QSWYLKENIA TYGPQESSHV
960 970 980 990 1000
NLKDATFLES NKMHAINGKL YANLRGLTVY QGERVAWYML AMGQDTDIHT
1010 1020 1030 1040 1050
VHFHAESFLY QNGQSYRADV VDLFPGTFEV VEMVASNPGT WLMHCHVTDH
1060 1070 1080 1090 1100
VHAGMETIFT VLSHEEHFST MTTITKEIGK AVILRDIGGD NVKMLGMNIP
1110 1120 1130 1140 1150
IKDVEILSSA LIAICVLLLL IALALGGVVW YQHRQRKLRR NRRSILDDSF

KLLSLKQ
Length:1,157
Mass (Da):129,666
Last modified:July 27, 2011 - v3
Checksum:i41055EC4DA11DC12
GO
Isoform 2 (identifier: Q9Z0Z4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1081-1081: Missing.

Show »
Length:1,156
Mass (Da):129,595
Checksum:iE9EC0333FEC443A5
GO

Sequence cautioni

The sequence BAC98004 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti501 – 542Missing in BAC38197 (PubMed:16141072).CuratedAdd BLAST42
Sequence conflicti593N → S in BAC98004 (PubMed:14621295).Curated1
Sequence conflicti593N → S in AAH48237 (PubMed:15489334).Curated1
Sequence conflicti593N → S in AAH54442 (PubMed:15489334).Curated1
Sequence conflicti856 – 889VLTYQ…VDPIK → LEHLMKRQRLYNPFTLVFWF IPFNILHSWAGQVT in BAC38197 (PubMed:16141072).CuratedAdd BLAST34
Sequence conflicti1068F → Y in AAD16035 (PubMed:9988272).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0116281081Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF082567 mRNA. Translation: AAD16035.1.
AK129194 mRNA. Translation: BAC98004.1. Different initiation.
AL732365 Genomic DNA. Translation: CAM22078.1.
CH466564 Genomic DNA. Translation: EDL14216.1.
BC048237 mRNA. Translation: AAH48237.1.
BC054442 mRNA. Translation: AAH54442.1.
AK081330 mRNA. Translation: BAC38197.1.
CCDSiCCDS30289.1. [Q9Z0Z4-1]
RefSeqiNP_001153099.1. NM_001159627.1. [Q9Z0Z4-1]
NP_001153100.1. NM_001159628.1. [Q9Z0Z4-2]
NP_034547.2. NM_010417.2. [Q9Z0Z4-1]
NP_851790.1. NM_181273.4.
UniGeneiMm.277092.

Genome annotation databases

EnsembliENSMUST00000033553; ENSMUSP00000033553; ENSMUSG00000031209. [Q9Z0Z4-1]
ENSMUST00000113838; ENSMUSP00000109469; ENSMUSG00000031209. [Q9Z0Z4-1]
GeneIDi15203.
KEGGimmu:15203.
UCSCiuc009tuk.2. mouse. [Q9Z0Z4-1]
uc009tul.2. mouse. [Q9Z0Z4-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF082567 mRNA. Translation: AAD16035.1.
AK129194 mRNA. Translation: BAC98004.1. Different initiation.
AL732365 Genomic DNA. Translation: CAM22078.1.
CH466564 Genomic DNA. Translation: EDL14216.1.
BC048237 mRNA. Translation: AAH48237.1.
BC054442 mRNA. Translation: AAH54442.1.
AK081330 mRNA. Translation: BAC38197.1.
CCDSiCCDS30289.1. [Q9Z0Z4-1]
RefSeqiNP_001153099.1. NM_001159627.1. [Q9Z0Z4-1]
NP_001153100.1. NM_001159628.1. [Q9Z0Z4-2]
NP_034547.2. NM_010417.2. [Q9Z0Z4-1]
NP_851790.1. NM_181273.4.
UniGeneiMm.277092.

3D structure databases

ProteinModelPortaliQ9Z0Z4.
SMRiQ9Z0Z4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000033553.

PTM databases

iPTMnetiQ9Z0Z4.
PhosphoSitePlusiQ9Z0Z4.

Proteomic databases

PaxDbiQ9Z0Z4.
PeptideAtlasiQ9Z0Z4.
PRIDEiQ9Z0Z4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000033553; ENSMUSP00000033553; ENSMUSG00000031209. [Q9Z0Z4-1]
ENSMUST00000113838; ENSMUSP00000109469; ENSMUSG00000031209. [Q9Z0Z4-1]
GeneIDi15203.
KEGGimmu:15203.
UCSCiuc009tuk.2. mouse. [Q9Z0Z4-1]
uc009tul.2. mouse. [Q9Z0Z4-2]

Organism-specific databases

CTDi9843.
MGIiMGI:1332240. Heph.
RougeiSearch...

Phylogenomic databases

eggNOGiKOG1263. Eukaryota.
COG2132. LUCA.
GeneTreeiENSGT00550000074552.
HOGENOMiHOG000231499.
HOVERGENiHBG003674.
InParanoidiQ9Z0Z4.
KOiK14735.
OMAiLIHLKNF.
OrthoDBiEOG091G00QL.
TreeFamiTF329807.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiHeph. mouse.
PROiQ9Z0Z4.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000031209.
CleanExiMM_HEPH.
ExpressionAtlasiQ9Z0Z4. baseline and differential.
GenevisibleiQ9Z0Z4. MM.

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.
IPR027154. HEPH.
[Graphical view]
PANTHERiPTHR10127:SF622. PTHR10127:SF622. 1 hit.
PfamiPF07731. Cu-oxidase_2. 1 hit.
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...

Entry informationi

Entry nameiHEPH_MOUSE
AccessioniPrimary (citable) accession number: Q9Z0Z4
Secondary accession number(s): A2AI63
, Q6ZQ65, Q80Y80, Q8C4S2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: July 27, 2011
Last modified: November 2, 2016
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.