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Aliases for IBA57 Gene

Aliases for IBA57 Gene

  • IBA57, Iron-Sulfur Cluster Assembly Homolog (S. Cerevisiae) 2 3
  • C1orf69 3 4 6
  • Iron-Sulfur Cluster Assembly Factor Homolog 3 4
  • MMDS3 3 6
  • Iron-Sulfur Cluster Assembly Factor For Biotin Synthase- And Aconitase-Like Mitochondrial Proteins, With A Mass Of 57kDa 3
  • Iron-Sulfur Cluster Assembly Factor For Biotin Synthase- And Aconitase-Like Mitochondrial Proteins 2
  • Putative Transferase C1orf69, Mitochondrial 3
  • Putative Transferase CAF17, Mitochondrial 3
  • Chromosome 1 Open Reading Frame 69 2
  • With A Mass Of 57kDa 2
  • EC 2.1.-.- 4

External Ids for IBA57 Gene

Previous Symbols for IBA57 Gene

  • C1orf69

Summaries for IBA57 Gene

GeneCards Summary for IBA57 Gene

IBA57 (IBA57, Iron-Sulfur Cluster Assembly Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with IBA57 include multiple mitochondrial dysfunctions syndrome 3 and hypotonia-cerebral atrophy-hyperglycinemia syndrome. GO annotations related to this gene include aminomethyltransferase activity.

UniProtKB/Swiss-Prot for IBA57 Gene

  • Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IBA57 Gene

Genomics for IBA57 Gene

Genomic Location for IBA57 Gene

Start:
228,165,728 bp from pter
End:
228,197,905 bp from pter
Size:
32,178 bases
Orientation:
Plus strand

Genomic View for IBA57 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IBA57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IBA57 Gene

No data available for Regulatory Elements for IBA57 Gene

Proteins for IBA57 Gene

  • Protein details for IBA57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T440-CAF17_HUMAN
    Recommended name:
    Putative transferase CAF17, mitochondrial
    Protein Accession:
    Q5T440
    Secondary Accessions:

    Protein attributes for IBA57 Gene

    Size:
    356 amino acids
    Molecular mass:
    38155 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IBA57 Gene

Proteomics data for IBA57 Gene at MOPED

Post-translational modifications for IBA57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IBA57 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IBA57 Gene

Domains for IBA57 Gene

Protein Domains for IBA57 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CAF17_HUMAN
Family:
  • Belongs to the GcvT family. CAF17 subfamily.:
    • Q5T440
genes like me logo Genes that share domains with IBA57: view

No data available for Gene Families for IBA57 Gene

Function for IBA57 Gene

Molecular function for IBA57 Gene

UniProtKB/Swiss-Prot Function: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway.

Enzyme Numbers (IUBMB) for IBA57 Gene

Gene Ontology (GO) - Molecular Function for IBA57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004047 aminomethyltransferase activity --
GO:0016740 transferase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with IBA57: view

Phenotypes for IBA57 Gene

GenomeRNAi human phenotypes for IBA57:
genes like me logo Genes that share phenotypes with IBA57: view

miRNA for IBA57 Gene

miRTarBase miRNAs that target IBA57

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for IBA57 Gene

Localization for IBA57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IBA57 Gene

Mitochondrion.

Gene Ontology (GO) - Cellular Components for IBA57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with IBA57: view

Pathways for IBA57 Gene

SuperPathways for IBA57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IBA57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006546 glycine catabolic process --
GO:0006783 heme biosynthetic process IEA --
GO:0016226 iron-sulfur cluster assembly IBA --
GO:0032259 methylation --
genes like me logo Genes that share ontologies with IBA57: view

No data available for Pathways by source for IBA57 Gene

Transcripts for IBA57 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for IBA57 Gene

No ASD Table

Relevant External Links for IBA57 Gene

GeneLoc Exon Structure for
IBA57
ECgene alternative splicing isoforms for
IBA57

Expression for IBA57 Gene

mRNA expression in normal human tissues for IBA57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IBA57 Gene

SOURCE GeneReport for Unigene cluster for IBA57 Gene Hs.237017

mRNA Expression by UniProt/SwissProt for IBA57 Gene

Q5T440-CAF17_HUMAN
Tissue specificity: Expressed in skin fibroblasts and skeletal muscle (at protein level).
genes like me logo Genes that share expressions with IBA57: view

Orthologs for IBA57 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IBA57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IBA57 36
  • 98.41 (n)
  • 98.6 (a)
IBA57 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IBA57 36
  • 78.74 (n)
  • 75.65 (a)
IBA57 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IBA57 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iba57 36
  • 76.97 (n)
  • 71.07 (a)
Iba57 16
Iba57 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IBA57 37
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iba57 36
  • 75.94 (n)
  • 69.94 (a)
chicken
(Gallus gallus)
Aves IBA57 36
  • 62.66 (n)
  • 57.79 (a)
IBA57 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IBA57 37
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iba57 36
  • 57.45 (n)
  • 54.95 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12169 36
zebrafish
(Danio rerio)
Actinopterygii Dr.14323 36
iba57 36
  • 54.71 (n)
  • 48.57 (a)
iba57 37
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8043 36
  • 48.98 (n)
  • 37.63 (a)
CG8043 37
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F39H2.3 36
  • 40.86 (n)
  • 34.63 (a)
F39H2.3 37
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IBA57 37
  • 20 (a)
OneToOne
IBA57 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12130 36
  • 45.37 (n)
  • 38.13 (a)
rice
(Oryza sativa)
Liliopsida Os06g0134800 36
  • 47.19 (n)
  • 39.06 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06424 36
  • 50.96 (n)
  • 41.01 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC21E11.07 36
  • 43.45 (n)
  • 38.58 (a)
Species with no ortholog for IBA57:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IBA57 Gene

ENSEMBL:
Gene Tree for IBA57 (if available)
TreeFam:
Gene Tree for IBA57 (if available)

Paralogs for IBA57 Gene

No data available for Paralogs for IBA57 Gene

Variants for IBA57 Gene

Sequence variations from dbSNP and Humsavar for IBA57 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs947083 -- 228,179,112(-) TTTTG(A/G)TATCT utr-variant-3-prime, intron-variant
rs1059777 -- 228,184,189(+) ccccc(A/C/T)ggggt intron-variant
rs1059778 -- 228,184,361(+) CAGca(C/T)tgaag intron-variant
rs1143272 -- 228,178,306(+) GGGCG(G/T)GTGTA utr-variant-3-prime, intron-variant
rs1557026 -- 228,195,666(+) ctCAT(A/G)TATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IBA57 Gene

Variant ID Type Subtype PubMed ID
esv32853 CNV Gain 17666407
nsv826908 CNV Gain 20364138
nsv523935 CNV Loss 19592680
nsv873252 CNV Loss 21882294
dgv537n71 CNV Loss 21882294
nsv873255 CNV Loss 21882294
nsv827019 CNV Loss 20364138
nsv873256 CNV Loss 21882294
nsv873257 CNV Loss 21882294
dgv538n71 CNV Loss 21882294
dgv539n71 CNV Loss 21882294
esv2724262 CNV Deletion 23290073
esv4840 CNV Deletion 18987735
esv2724273 CNV Deletion 23290073
esv1008511 CNV Deletion 20482838
esv1771567 CNV Deletion 17803354

Relevant External Links for IBA57 Gene

HapMap Linkage Disequilibrium report
IBA57
Human Gene Mutation Database (HGMD)
IBA57

Disorders for IBA57 Gene

(1) OMIM Diseases for IBA57 Gene (615316)

UniProtKB/Swiss-Prot

CAF17_HUMAN
  • Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269 PubMed:23462291}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with IBA57: view

Publications for IBA57 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  2. The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PMID: 22323289) Sheftel A.D. … Lill R. (Mol. Biol. Cell 2012) 3 4
  3. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. (PMID: 23462291) Ajit Bolar N. … Van Coster R. (Hum. Mol. Genet. 2013) 3 4
  4. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. (PMID: 25609768) Lossos A. … Lill R. (Neurology 2015) 3
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4

Products for IBA57 Gene

Sources for IBA57 Gene

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