UniProtKB - C9JAX1 (C9JAX1_HUMAN)
Protein
Frataxin intermediate form
Gene
FXN
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- EC:1.16.3.1ARBA annotation
GO - Molecular functioni
- ferric iron binding Source: InterPro
- ferroxidase activity Source: UniProtKB-EC
GO - Biological processi
- cellular iron ion homeostasis Source: UniProtKB-KW
- heme biosynthetic process Source: UniProtKB-KW
- ion transport Source: UniProtKB-KW
- iron-sulfur cluster assembly Source: InterPro
Keywordsi
Molecular function | OxidoreductaseARBA annotation |
Biological process | Heme biosynthesisARBA annotation, Ion transport, Iron storageARBA annotation, Iron transportARBA annotation, Transport |
Ligand | Iron |
Names & Taxonomyi
Protein namesi | Recommended name: Frataxin intermediate formARBA annotation (EC:1.16.3.1ARBA annotation)Alternative name(s): Frataxin mature formARBA annotation Frataxin, mitochondrialARBA annotation |
Gene namesi | Name:FXNImported |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3951, FXN |
VEuPathDBi | HostDB:ENSG00000165060.11 |
Subcellular locationi
Mitochondrion
- mitochondrion Source: UniProtKB-KW
Keywords - Cellular componenti
MitochondrionARBA annotationExpressioni
Gene expression databases
Bgeei | ENSG00000165060, Expressed in right lobe of liver and 221 other tissues |
ExpressionAtlasi | C9JAX1, baseline and differential |
Family & Domainsi
Sequence similaritiesi
Belongs to the frataxin family.ARBA annotation
Keywords - Domaini
Transit peptideARBA annotationPhylogenomic databases
GeneTreei | ENSGT00390000005811 |
HOGENOMi | CLU_080880_4_0_1 |
Family and domain databases
Gene3Di | 3.30.920.10, 1 hit |
InterProi | View protein in InterPro IPR017789, Frataxin IPR002908, Frataxin/CyaY IPR036524, Frataxin/CyaY_sf IPR020895, Frataxin_CS |
PANTHERi | PTHR16821, PTHR16821, 1 hit |
Pfami | View protein in Pfam PF01491, Frataxin_Cyay, 1 hit |
PRINTSi | PR00904, FRATAXIN |
SMARTi | View protein in SMART SM01219, Frataxin_Cyay, 1 hit |
SUPFAMi | SSF55387, SSF55387, 1 hit |
TIGRFAMsi | TIGR03421, FeS_CyaY, 1 hit TIGR03422, mito_frataxin, 1 hit |
PROSITEi | View protein in PROSITE PS01344, FRATAXIN_1, 1 hit PS50810, FRATAXIN_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
C9JAX1-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNLRKSGTLG HPGSLDETTY ERLAEETLDS LAEFFEDLAD KPYTFEDYDV
60 70 80 90 100
SFGSGVLTVK LGGDLGTYVI NKQTPNKQIW LSSPSSGPKR YDWTGKNWVY
110 120 130
SHDGVSLHEL LAAELTKALK TKLDLSSLAY SGKDA
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ16595 | FRDA_HUMAN | Frataxin, mitochondrial | FXN FRDA, X25 | 210 | Annotation score: | ||
A0A2R8YDH4 | A0A2R8YDH4_HUMAN | Uncharacterized protein | 1,319 | Annotation score: | |||
A0A2R8Y5A1 | A0A2R8Y5A1_HUMAN | Uncharacterized protein | 171 | Annotation score: | |||
A0A2R8Y4G3 | A0A2R8Y4G3_HUMAN | Uncharacterized protein | 196 | Annotation score: | |||
A0A2R8Y577 | A0A2R8Y577_HUMAN | Uncharacterized protein | 225 | Annotation score: | |||
A0A0S2Z3Q8 | A0A0S2Z3Q8_HUMAN | Frataxin isoform 3 | FXN | 91 | Annotation score: | ||
A0A2R8YEK2 | A0A2R8YEK2_HUMAN | Uncharacterized protein | 58 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL162730 Genomic DNA No translation available. |
Genome annotation databases
Ensembli | ENST00000377270; ENSP00000366482; ENSG00000165060 ENST00000498653; ENSP00000418015; ENSG00000165060 |
UCSCi | uc064toy.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL162730 Genomic DNA No translation available. |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Proteomic databases
MaxQBi | C9JAX1 |
PRIDEi | C9JAX1 |
ProteomicsDBi | 9384 |
Protocols and materials databases
Antibodypediai | 26793, 602 antibodies |
Genome annotation databases
Ensembli | ENST00000377270; ENSP00000366482; ENSG00000165060 ENST00000498653; ENSP00000418015; ENSG00000165060 |
UCSCi | uc064toy.1, human |
Organism-specific databases
HGNCi | HGNC:3951, FXN |
OpenTargetsi | ENSG00000165060 |
VEuPathDBi | HostDB:ENSG00000165060.11 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00390000005811 |
HOGENOMi | CLU_080880_4_0_1 |
Miscellaneous databases
ChiTaRSi | FXN, human |
Gene expression databases
Bgeei | ENSG00000165060, Expressed in right lobe of liver and 221 other tissues |
ExpressionAtlasi | C9JAX1, baseline and differential |
Family and domain databases
Gene3Di | 3.30.920.10, 1 hit |
InterProi | View protein in InterPro IPR017789, Frataxin IPR002908, Frataxin/CyaY IPR036524, Frataxin/CyaY_sf IPR020895, Frataxin_CS |
PANTHERi | PTHR16821, PTHR16821, 1 hit |
Pfami | View protein in Pfam PF01491, Frataxin_Cyay, 1 hit |
PRINTSi | PR00904, FRATAXIN |
SMARTi | View protein in SMART SM01219, Frataxin_Cyay, 1 hit |
SUPFAMi | SSF55387, SSF55387, 1 hit |
TIGRFAMsi | TIGR03421, FeS_CyaY, 1 hit TIGR03422, mito_frataxin, 1 hit |
PROSITEi | View protein in PROSITE PS01344, FRATAXIN_1, 1 hit PS50810, FRATAXIN_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | C9JAX1_HUMAN | |
Accessioni | C9JAX1Primary (citable) accession number: C9JAX1 | |
Entry historyi | Integrated into UniProtKB/TrEMBL: | November 3, 2009 |
Last sequence update: | November 3, 2009 | |
Last modified: | February 10, 2021 | |
This is version 77 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Unreviewed (UniProtKB/TrEMBL) | |
Disclaimer | Any 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. |