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|---|---|
| Accession Number: | Q16595 |
| Protein Name: | Frataxin, mitochondrial precursor aka Friedreich's ataxia protein aka Fxn |
| Length: | 210 |
| Molecular Weight: | 23135.00 |
| Species: | Homo sapiens (Human) [9606] |
| Location1 / Topology2 / Orientation3: | Mitochondrion1 |
| Substrate | |
Cross database links:
| RefSeq: | NP_000135.2 NP_001155178.1 NP_852090.1 |
|---|---|
| Entrez Gene ID: | 2395 |
| Pfam: | PF01491 |
| OMIM: |
229300 phenotype 606829 gene |
| KEGG: | hsa:2395 |
Gene Ontology
GO:0005829
C:cytosol
GO:0005759
C:mitochondrial matrix
GO:0051537
F:2 iron, 2 sulfur cluster binding
GO:0008199
F:ferric iron binding
GO:0008198
F:ferrous iron binding
GO:0034986
F:iron chaperone activity
GO:0005515
F:protein binding
GO:0006879
P:cellular iron ion homeostasis
GO:0006783
P:heme biosynthetic process
GO:0018283
P:iron incorporation into metallo-sulfur cluster
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:0048554
P:positive regulation of metalloenzyme activity
GO:0051353
P:positive regulation of oxidoreductase activity
GO:0051347
P:positive regulation of transferase activity
GO:0016540
P:protein autoprocessing
GO:0010722
P:regulation of ferrochelatase activity
GO:0010039
P:response to iron ion
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References (18)[1] “Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.” Campuzano V.et.al. 8596916 [2] “DNA sequence and analysis of human chromosome 9.” Humphray S.J.et.al. 15164053 [3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [4] “In vivo maturation of human frataxin.” Condo I.et.al. 17468497 [5] “Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.” Campuzano V.et.al. 9302253 [6] “Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.” Koutnikova H.et.al. 9241270 [7] “Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.” Gordon D.M.et.al. 10545606 [8] “Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.” Branda S.S.et.al. 10428860 [9] “Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.” Cavadini P.et.al. 11020385 [10] “A pool of extramitochondrial frataxin that promotes cell survival.” Condo I.et.al. 16608849 [11] “Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.” Shan Y.et.al. 17331979 [12] “Crystal structure of human frataxin.” Dhe-Paganon S.et.al. 10900192 [13] “Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.” Musco G.et.al. 10903947 [14] “Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.” Bidichandani S.I.et.al. 9150176 | |
| Structure: | |
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR 61: GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF 121: EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV 181: SLHELLAAEL TKALKTKLDL SSLAYSGKDA