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Basic Information Integrated Annotations
Tag Content
UUCD2 ID IUUC-Hsa-046921
Ensembl Protein ID ENSP00000366482.3
UniProt Accession Q16595; A8MXJ6; C9JJ89; O15545; O95656; Q15294; Q5VZ01; FRDA_HUMAN
Genbank Protein ID AAA98510.1; AAA98508.1; AAA98508.1; AAA98508.1; AAA98508.1; AAA98508.1; AAA98509.1; AAA98509.1; AAA98509.1; AAA98509.1; AAA98509.1; CAH71829.1; AAH23633.1; AAH48097.1; CAA74077.1; AAB84047.1; AAD00734.1
Protein Name Frataxin, mitochondrial; Friedreich ataxia protein; Frataxin intermediate form; Frataxin(56-210); m56-FXN; Frataxin(78-210); d-FXN; m78-FXN; Frataxin mature form; Frataxin(81-210); m81-FXN
Genbank Nucleotide ID U43747; U43752; U43748; U43749; U43750; U43751; U43753; U43748; U43749; U43750; U43751; AL162730; BC023633; BC048097; Y13751; AF028240; U93173
Gene Name FXN; FRDA; X25
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000165060.11 ENST00000377270.7 ENSP00000366482.3
ENSG00000165060.11 ENST00000396366.6 ENSP00000379652.2
ENSG00000165060.11 ENST00000484259.1 ENSP00000419243.1
ENSG00000165060.11 ENST00000396364.7 ENSP00000379650.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
BioGRIDmUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/Other/Other UBD/Other/Other 23506486
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.
 Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.
Protein Sequence
(Fasta)
MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR 60
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046921|UBD,UBD/Other/Other|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
TTTACAGGGC TTAACTCATT TTATCCTTAC CACAATCCTA TGAAGTAGGA ACTTTTATAA 60
AACGCATTTT ATAAACAAGG CACAGAGAGG TTAATTAACT TGCCCTCTGG TCACACAGCT 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046921|UBD,UBD/Other/Other|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0903--Direct protein sequencing
KW-0225--Disease mutation
KW-0350--Heme biosynthesis
KW-0406--Ion transport
KW-0408--Iron
KW-0409--Iron storage
KW-0410--Iron transport
KW-0479--Metal-binding
KW-0496--Mitochondrion
KW-0560--Oxidoreductase
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0809--Transit peptide
KW-0813--Transport
KW-0818--Triplet repeat expansion
Interpro

IPR017789--Frataxin
IPR002908--Frataxin/CyaY
IPR020895--Frataxin_CS
PROSITE

PS01344--FRATAXIN_1
PS50810--FRATAXIN_2
Pfam

PF01491--Frataxin_Cyay
PRINTS

PR00904--FRATAXIN
SMART

SM01219--Frataxin_Cyay
Gene Ontology

GO:0005829--C:cytosol
GO:0005759--C:mitochondrial matrix
GO:0005739--C:mitochondrion
GO:0051537--F:2 iron, 2 sulfur cluster binding
GO:0008199--F:ferric iron binding
GO:0008198--F:ferrous iron binding
GO:0004322--F:ferroxidase activity
GO:0034986--F:iron chaperone activity
GO:0051536--F:iron-sulfur cluster binding
GO:0007628--P:adult walking behavior
GO:0009060--P:aerobic respiration
GO:0006879--P:cellular iron ion homeostasis
GO:0070301--P:cellular response to hydrogen peroxide
GO:0009792--P:embryo development ending in birth or egg hatching
GO:0006783--P:heme biosynthetic process
GO:0006811--P:ion transport
GO:0018283--P:iron incorporation into metallo-sulfur cluster
GO:0007005--P:mitochondrion organization
GO:0043066--P:negative regulation of apoptotic process
GO:0040015--P:negative regulation of multicellular organism growth
GO:0046621--P:negative regulation of organ growth
GO:0090201--P:negative regulation of release of cytochrome c from mitochondria
GO:0006119--P:oxidative phosphorylation
GO:1904234--P:positive regulation of aconitate hydratase activity
GO:0043085--P:positive regulation of catalytic activity
GO:0030307--P:positive regulation of cell growth
GO:0008284--P:positive regulation of cell proliferation
GO:0051349--P:positive regulation of lyase activity
GO:1904231--P:positive regulation of succinate dehydrogenase activity
GO:0019230--P:proprioception
GO:0016540--P:protein autoprocessing
GO:0010722--P:regulation of ferrochelatase activity
GO:0010039--P:response to iron ion
GO:0044281--P:small molecule metabolic process
KEGG hsa:2395
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002122 Ailuropoda melanoleuca 76.47 3.00e-81 294.00
IUUC-Apl-003853 Anas platyrhynchos 84.30 2.00e-57 214.00
IUUC-Aca-005026 Anolis carolinensis 72.48 8.00e-61 225.00
IUUC-Aly-006200 Arabidopsis lyrata 44.79 3.00e-19 87.80
IUUC-Ath-007033 Arabidopsis thaliana 44.79 3.00e-19 88.20
IUUC-Ago-007707 Ashbya gossypii 46.30 1.00e-18 85.10
IUUC-Acl-008146 Aspergillus clavatus 39.39 3.00e-18 85.10
IUUC-Afl-008501 Aspergillus flavus 45.78 2.00e-14 72.40
IUUC-Afu-008851 Aspergillus fumigatus 32.16 2.00e-18 85.50
IUUC-Ani-009129 Aspergillus nidulans 40.00 1.00e-11 63.20
IUUC-Ang-009557 Aspergillus niger 37.90 5.00e-17 81.30
IUUC-Ate-010486 Aspergillus terreus 33.50 1.00e-19 89.40
IUUC-Bgr-012108 Blumeria graminis 41.88 1.00e-15 76.60
IUUC-Bta-013437 Bos taurus 74.76 3.00e-76 278.00
IUUC-Bci-013810 Botrytis cinerea 53.25 2.00e-15 75.50
IUUC-Bdi-014226 Brachypodium distachyon 44.92 3.00e-24 105.00
IUUC-Bol-015092 Brassica oleracea 48.86 1.00e-19 89.40
IUUC-Bra-017945 Brassica rapa 48.86 4.00e-19 87.00
IUUC-Cel-018466 Caenorhabditis elegans 51.38 1.00e-25 108.00
IUUC-Cja-019306 Callithrix jacchus 85.92 2.00e-93 335.00
IUUC-Cfa-020063 Canis familiaris 75.12 1.00e-81 295.00
IUUC-Cpo-021325 Cavia porcellus 74.88 5.00e-82 296.00
IUUC-Cre-022889 Chlamydomonas reinhardtii 53.19 3.00e-21 95.10
IUUC-Csa-023739 Chlorocebus sabaeus 94.29 2.00e-114 404.00
IUUC-Cho-024324 Choloepus hoffmanni 79.34 5.00e-79 286.00
IUUC-Cgl-026402 Colletotrichum gloeosporioides 44.74 9.00e-19 86.70
IUUC-Cne-027094 Cryptococcus neoformans 39.51 3.00e-13 68.20
IUUC-Cme-027112 Cyanidioschyzon merolae 43.56 3.00e-13 67.80
IUUC-Dre-028813 Danio rerio 66.12 5.00e-45 173.00
IUUC-Dno-029949 Dasypus novemcinctus 90.37 3.00e-58 216.00
IUUC-Dse-031482 Dothistroma septosporum 40.17 2.00e-18 85.50
IUUC-Dme-031608 Drosophila melanogaster 53.28 2.00e-33 135.00
IUUC-Ete-032937 Echinops telfairi 96.88 3.00e-13 67.80
IUUC-Eca-033899 Equus caballus 90.85 9.00e-65 238.00
IUUC-Fca-036579 Felis catus 79.66 3.00e-67 247.00
IUUC-Fox-037940 Fusarium oxysporum 48.25 1.00e-22 99.80
IUUC-Fso-038465 Fusarium solani 50.88 3.00e-23 101.00
IUUC-Ggr-040089 Gaeumannomyces graminis 45.61 9.00e-21 93.20
IUUC-Gga-040910 Gallus gallus 78.87 1.00e-63 235.00
IUUC-Gma-044349 Glycine max 44.63 2.00e-24 105.00
IUUC-Ggo-044854 Gorilla gorilla 98.57 9.00e-107 379.00
IUUC-Hvu-047142 Hordeum vulgare 45.76 4.00e-24 104.00
IUUC-Kpa-049187 Komagataella pastoris 41.23 1.00e-15 76.30
IUUC-Lch-050614 Latimeria chalumnae 67.83 6.00e-56 210.00
IUUC-Lpe-051184 Leersia perrieri 42.98 3.00e-23 101.00
IUUC-Loc-052083 Lepisosteus oculatus 69.42 3.00e-48 183.00
IUUC-Lma-053209 Leptosphaeria maculans 41.96 2.00e-15 75.10
IUUC-Laf-054090 Loxodonta africana 76.78 2.00e-86 311.00
IUUC-Meu-056814 Macropus eugenii 80.27 1.00e-67 248.00
IUUC-Mor-057169 Magnaporthe oryzae 48.72 2.00e-22 98.60
IUUC-Mpo-057483 Magnaporthe poae 47.37 5.00e-22 97.40
IUUC-Mtr-058166 Medicago truncatula 49.52 2.00e-19 88.20
IUUC-Mla-059015 Melampsora laricipopulina 41.46 6.00e-19 86.70
IUUC-Mvi-060356 Microbotryum violaceum 51.06 2.00e-20 92.00
IUUC-Mdo-062658 Monodelphis domestica 64.98 5.00e-72 263.00
IUUC-Mmu-063470 Mus musculus 73.08 2.00e-79 288.00
IUUC-Mac-065327 Musa acuminata 47.11 4.00e-25 107.00
IUUC-Mpu-065761 Mustela putorius furo 86.58 3.00e-67 246.00
IUUC-Mlu-067175 Myotis lucifugus 75.23 4.00e-84 303.00
IUUC-Nfi-068535 Neosartorya fischeri 32.16 5.00e-18 84.30
IUUC-Ncr-068966 Neurospora crassa 44.00 5.00e-22 97.40
IUUC-Opr-070533 Ochotona princeps 54.30 3.00e-31 127.00
IUUC-Oan-073024 Ornithorhynchus anatinus 81.21 1.00e-58 218.00
IUUC-Ocu-074451 Oryctolagus cuniculus 78.69 4.00e-72 265.00
IUUC-Oba-075540 Oryza barthii 44.92 7.00e-24 103.00
IUUC-Obr-076285 Oryza brachyantha 42.15 1.00e-23 103.00
IUUC-Ogl-077827 Oryza glaberrima 44.92 7.00e-24 103.00
IUUC-Ogu-078491 Oryza glumaepatula 44.92 6.00e-24 103.00
IUUC-Oin-080149 Oryza indica 45.61 2.00e-23 102.00
IUUC-Olo-080318 Oryza longistaminata 43.33 2.00e-21 94.70
IUUC-Oni-083037 Oryza nivara 44.92 8.00e-24 103.00
IUUC-Opu-083448 Oryza punctata 43.90 2.00e-24 105.00
IUUC-Oru-084793 Oryza rufipogon 44.92 1.00e-23 103.00
IUUC-Osa-086032 Oryza sativa 44.92 8.00e-24 103.00
IUUC-Ola-086956 Oryzias latipes 64.06 1.00e-43 169.00
IUUC-Olu-087806 Ostreococcus lucimarinus 40.00 1.00e-16 79.30
IUUC-Oga-089029 Otolemur garnettii 84.83 2.00e-88 317.00
IUUC-Oar-089471 Ovis aries 73.33 4.00e-75 274.00
IUUC-Pan-092091 Papio anubis 94.29 5.00e-114 403.00
IUUC-Psi-093193 Pelodiscus sinensis 77.55 3.00e-66 243.00
IUUC-Pma-094540 Petromyzon marinus 62.18 9.00e-42 161.00
IUUC-Pno-094873 Phaeosphaeria nodorum 40.80 2.00e-17 82.40
IUUC-Ppa-095343 Physcomitrella patens 46.59 6.00e-18 84.30
IUUC-Pfo-097093 Poecilia formosa 61.72 7.00e-44 170.00
IUUC-Pab-098781 Pongo abelii 100.00 1.00e-30 125.00
IUUC-Pop-098983 Populus trichocarpa 40.74 3.00e-22 98.20
IUUC-Pca-100872 Procavia capensis 71.56 6.00e-63 233.00
IUUC-Ppe-101711 Prunus persica 51.14 8.00e-20 90.10
IUUC-Pva-102256 Pteropus vampyrus 74.76 2.00e-82 298.00
IUUC-Pgr-103607 Puccinia graminis 42.28 5.00e-21 94.00
IUUC-Pte-104220 Pyrenophora teres 36.80 2.00e-15 74.70
IUUC-Pyt-104562 Pyrenophora triticirepentis 36.80 5.00e-16 77.40
IUUC-Rno-105021 Rattus norvegicus 69.23 1.00e-76 279.00
IUUC-Sce-106182 Saccharomyces cerevisiae 49.30 2.00e-15 75.10
IUUC-Sha-107279 Sarcophilus harrisii 73.48 4.00e-71 260.00
IUUC-Sja-107819 Schizosaccharomyces japonicus 42.02 7.00e-20 89.70
IUUC-Spo-108197 Schizosaccharomyces pombe 42.28 9.00e-22 95.90
IUUC-Smo-108810 Selaginella moellendorffii 54.76 2.00e-21 93.60
IUUC-Sit-110256 Setaria italica 43.86 6.00e-23 100.00
IUUC-Sly-111448 Solanum lycopersicum 45.61 2.00e-22 99.00
IUUC-Stu-112702 Solanum tuberosum 45.61 1.00e-22 99.40
IUUC-Sbi-113956 Sorghum bicolor 46.61 3.00e-25 108.00
IUUC-Sre-115024 Sporisorium reilianum 37.98 2.00e-16 79.30
IUUC-Ssc-116034 Sus scrofa 76.56 2.00e-82 298.00
IUUC-Tgu-117503 Taeniopygia guttata 75.52 2.00e-57 214.00
IUUC-Tsy-119166 Tarsius syrichta 67.32 1.00e-43 168.00
IUUC-Tni-120703 Tetraodon nigroviridis 40.14 4.00e-24 104.00
IUUC-Tca-121473 Theobroma cacao 51.14 2.00e-19 89.00
IUUC-Tre-122241 Trichoderma reesei 46.49 7.00e-20 89.40
IUUC-Tvi-122347 Trichoderma virens 41.94 2.00e-18 85.10
IUUC-Tae-124560 Triticum aestivum 44.95 7.00e-23 100.00
IUUC-Tur-126452 Triticum urartu 46.43 5.00e-24 103.00
IUUC-Tme-127205 Tuber melanosporum 47.66 6.00e-19 85.50
IUUC-Ttr-128186 Tursiops truncatus 78.02 4.00e-75 273.00
IUUC-Uma-129523 Ustilago maydis 34.33 6.00e-15 74.30
IUUC-Vda-129793 Verticillium dahliae 45.61 3.00e-20 91.70
IUUC-Vpa-130040 Vicugna pacos 90.67 3.00e-75 273.00
IUUC-Vvi-131588 Vitis vinifera 45.83 7.00e-20 90.10
IUUC-Yli-134631 Yarrowia lipolytica 49.41 1.00e-17 82.40
IUUC-Zma-135478 Zea mays 47.01 1.00e-25 109.00
Created Date 25-Jun-2017

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