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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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi126 – 1261Copper 1; type 2By similarity
Metal bindingi128 – 1281Copper 2; type 3By similarity
Metal bindingi186 – 1861Copper 2; type 3By similarity
Metal bindingi188 – 1881Copper 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 bindingi655 – 6551Copper 5; type 1By similarity
Metal bindingi698 – 6981Copper 5; type 1By similarity
Metal bindingi703 – 7031Copper 5; type 1By similarity
Metal bindingi708 – 7081Copper 5; type 1By similarity
Metal bindingi999 – 9991Copper 6; type 1By similarity
Metal bindingi1002 – 10021Copper 1; type 2By similarity
Metal bindingi1004 – 10041Copper 3; type 3By similarity
Metal bindingi1044 – 10441Copper 3; type 3By similarity
Metal bindingi1045 – 10451Copper 6; type 1By similarity
Metal bindingi1046 – 10461Copper 2; type 3By similarity
Metal bindingi1050 – 10501Copper 6; type 1By similarity
Metal bindingi1055 – 10551Copper 6; type 1By similarity

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 11091091ExtracellularSequence analysisAdd
BLAST
Transmembranei1110 – 113021HelicalSequence analysisAdd
BLAST
Topological domaini1131 – 115727CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 11571139HephaestinPRO_0000002916Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi49 – 491N-linked (GlcNAc...)Sequence analysis
Glycosylationi54 – 541N-linked (GlcNAc...)Sequence analysis
Glycosylationi164 – 1641N-linked (GlcNAc...)Sequence analysis
Disulfide bondi180 ↔ 206Sequence analysis
Glycosylationi236 – 2361N-linked (GlcNAc...)Sequence analysis
Disulfide bondi285 ↔ 366Sequence analysis
Disulfide bondi533 ↔ 559Sequence analysis
Glycosylationi587 – 5871N-linked (GlcNAc...)Sequence analysis
Disulfide bondi636 ↔ 717Sequence analysis
Glycosylationi713 – 7131N-linked (GlcNAc...)Sequence analysis
Glycosylationi757 – 7571N-linked (GlcNAc...)Sequence analysis
Disulfide bondi876 ↔ 902Sequence analysis
Glycosylationi930 – 9301N-linked (GlcNAc...)Sequence analysis
Modified residuei1144 – 11441PhosphoserineCombined sources
Modified residuei1149 – 11491PhosphoserineCombined sources
Modified residuei1154 – 11541PhosphoserineCombined sources

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9Z0Z4.
PaxDbiQ9Z0Z4.
PeptideAtlasiQ9Z0Z4.
PRIDEiQ9Z0Z4.

PTM databases

iPTMnetiQ9Z0Z4.
PhosphoSiteiQ9Z0Z4.

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. Positions 23-1065.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 206183Plastocyanin-like 1Add
BLAST
Domaini218 – 366149Plastocyanin-like 2Add
BLAST
Domaini379 – 559181Plastocyanin-like 3Add
BLAST
Domaini569 – 717149Plastocyanin-like 4Add
BLAST
Domaini730 – 902173Plastocyanin-like 5Add
BLAST
Domaini910 – 1086177Plastocyanin-like 6Add
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti501 – 54242Missing in BAC38197 (PubMed:16141072).CuratedAdd
BLAST
Sequence conflicti593 – 5931N → S in BAC98004 (PubMed:14621295).Curated
Sequence conflicti593 – 5931N → S in AAH48237 (PubMed:15489334).Curated
Sequence conflicti593 – 5931N → S in AAH54442 (PubMed:15489334).Curated
Sequence conflicti856 – 88934VLTYQ…VDPIK → LEHLMKRQRLYNPFTLVFWF IPFNILHSWAGQVT in BAC38197 (PubMed:16141072).CuratedAdd
BLAST
Sequence conflicti1068 – 10681F → Y in AAD16035 (PubMed:9988272).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1081 – 10811Missing in isoform 2. 1 PublicationVSP_011628

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.
XP_006527900.1. XM_006527837.1. [Q9Z0Z4-1]
XP_006527901.1. XM_006527838.1. [Q9Z0Z4-2]
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.
XP_006527900.1. XM_006527837.1. [Q9Z0Z4-1]
XP_006527901.1. XM_006527838.1. [Q9Z0Z4-2]
UniGeneiMm.277092.

3D structure databases

ProteinModelPortaliQ9Z0Z4.
SMRiQ9Z0Z4. Positions 23-1065.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000033553.

PTM databases

iPTMnetiQ9Z0Z4.
PhosphoSiteiQ9Z0Z4.

Proteomic databases

MaxQBiQ9Z0Z4.
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: September 7, 2016
This is version 121 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.