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Protein

Hephaestin

Gene

Heph

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionOxidoreductase
Biological processCopper transport, Ion transport, Iron transport, Transport
LigandCopper, 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome X

Organism-specific databases

MGIiMGI:1332240 Heph

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 domaini19 – 1109ExtracellularSequence analysisAdd BLAST1091
Transmembranei1110 – 1130HelicalSequence analysisAdd BLAST21
Topological domaini1131 – 1157CytoplasmicSequence analysisAdd BLAST27

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...) asparagineSequence analysis1
Glycosylationi54N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi180 ↔ 206Sequence analysis
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi285 ↔ 366Sequence analysis
Disulfide bondi533 ↔ 559Sequence analysis
Glycosylationi587N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi636 ↔ 717Sequence analysis
Glycosylationi713N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi757N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi876 ↔ 902Sequence analysis
Glycosylationi930N-linked (GlcNAc...) asparagineSequence 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 Expressed in 250 organ(s), highest expression level in female gonad
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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1263 Eukaryota
COG2132 LUCA
GeneTreeiENSGT00910000143988
HOGENOMiHOG000231499
HOVERGENiHBG003674
InParanoidiQ9Z0Z4
KOiK14735
OMAiKDSYGHI
OrthoDBiEOG091G00QL
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
IPR024715 Factor_5/8_like
IPR027154 HEPH
PANTHERiPTHR44048:SF1 PTHR44048:SF1, 1 hit
PfamiView protein in Pfam
PF07731 Cu-oxidase_2, 1 hit
PF07732 Cu-oxidase_3, 3 hits
PIRSFiPIRSF000354 Factors_V_VIII, 1 hit
SUPFAMiSSF49503 SSF49503, 6 hits
PROSITEiView protein in PROSITE
PS00079 MULTICOPPER_OXIDASE1, 3 hits
PS00080 MULTICOPPER_OXIDASE2, 1 hit

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2AI62A2AI62_MOUSE
Hephaestin
Heph
847Annotation score:

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

Similar proteinsi

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
GeneTreeiENSGT00910000143988
HOGENOMiHOG000231499
HOVERGENiHBG003674
InParanoidiQ9Z0Z4
KOiK14735
OMAiKDSYGHI
OrthoDBiEOG091G00QL
TreeFamiTF329807

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiHeph mouse
PROiPR:Q9Z0Z4
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000031209 Expressed in 250 organ(s), highest expression level in female gonad
CleanExiMM_HEPH
ExpressionAtlasiQ9Z0Z4 baseline and differential
GenevisibleiQ9Z0Z4 MM

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
IPR024715 Factor_5/8_like
IPR027154 HEPH
PANTHERiPTHR44048:SF1 PTHR44048:SF1, 1 hit
PfamiView protein in Pfam
PF07731 Cu-oxidase_2, 1 hit
PF07732 Cu-oxidase_3, 3 hits
PIRSFiPIRSF000354 Factors_V_VIII, 1 hit
SUPFAMiSSF49503 SSF49503, 6 hits
PROSITEiView protein in PROSITE
PS00079 MULTICOPPER_OXIDASE1, 3 hits
PS00080 MULTICOPPER_OXIDASE2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHEPH_MOUSE
AccessioniPrimary (citable) accession number: Q9Z0Z4
Secondary accession number(s): A2AI63
, Q6ZQ65, Q80Y80, Q8C4S2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: July 27, 2011
Last modified: November 7, 2018
This is version 133 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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