Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IBA57 Gene

Aliases for IBA57 Gene

  • IBA57 Homolog, Iron-Sulfur Cluster Assembly 2 3 5
  • C1orf69 3 4
  • 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
  • IBA57, Iron-Sulfur Cluster Assembly Homolog (S. Cerevisiae) 2
  • IBA57, Iron-Sulfur Cluster Assembly Homolog 3
  • Putative Transferase C1orf69, Mitochondrial 3
  • Iron-Sulfur Cluster Assembly Factor Homolog 4
  • Chromosome 1 Open Reading Frame 69 2
  • With A Mass Of 57kDa 2
  • EC 2.1.-.- 4
  • MMDS3 3
  • SPG74 3

External Ids for IBA57 Gene

Previous HGNC Symbols for IBA57 Gene

  • C1orf69

Previous GeneCards Identifiers for IBA57 Gene

  • GC01P228354

Summaries for IBA57 Gene

Entrez Gene Summary for IBA57 Gene

  • The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

GeneCards Summary for IBA57 Gene

IBA57 (IBA57 Homolog, Iron-Sulfur Cluster Assembly) is a Protein Coding gene. Diseases associated with IBA57 include multiple mitochondrial dysfunctions syndrome 3 and spastic paraplegia 74, autosomal recessive. GO annotations related to this gene include poly(A) RNA binding and 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IBA57 Gene

Genomics for IBA57 Gene

Regulatory Elements for IBA57 Gene

Enhancers for IBA57 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IBA57 on UCSC Golden Path with GeneCards custom track

Promoters for IBA57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IBA57 on UCSC Golden Path with GeneCards custom track

Genomic Location for IBA57 Gene

Chromosome:
1
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

Genes around IBA57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IBA57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IBA57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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 & Families for IBA57 Gene

Protein Domains for IBA57 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IBA57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T440

UniProtKB/Swiss-Prot:

CAF17_HUMAN :
  • Belongs to the GcvT family. CAF17 subfamily.
Family:
  • Belongs to the GcvT family. CAF17 subfamily.
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

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

Human Phenotype Ontology for IBA57 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for IBA57 Gene

miRTarBase miRNAs that target IBA57

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for IBA57 Gene

Localization for IBA57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IBA57 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IBA57 Gene COMPARTMENTS Subcellular localization image for IBA57 gene
Compartment Confidence
mitochondrion 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for IBA57 Gene

Pathways & Interactions for IBA57 Gene

SuperPathways for IBA57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IBA57 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for IBA57 Gene

Drugs & Compounds for IBA57 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for IBA57 Gene

This gene is overexpressed in Lymph node (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IBA57: view

Protein tissue co-expression partners for IBA57 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for IBA57 Gene

Orthologs for IBA57 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IBA57 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IBA57 35
  • 78.74 (n)
  • 75.65 (a)
IBA57 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iba57 35
  • 76.97 (n)
  • 71.07 (a)
Iba57 16
Iba57 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IBA57 35
  • 98.41 (n)
  • 98.6 (a)
IBA57 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iba57 35
  • 75.94 (n)
  • 69.94 (a)
dog
(Canis familiaris)
Mammalia IBA57 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IBA57 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves IBA57 35
  • 62.66 (n)
  • 57.79 (a)
IBA57 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IBA57 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iba57 35
  • 57.45 (n)
  • 54.95 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.14323 35
iba57 35
  • 54.71 (n)
  • 48.57 (a)
iba57 36
  • 43 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12169 35
fruit fly
(Drosophila melanogaster)
Insecta CG8043 35
  • 48.98 (n)
  • 37.63 (a)
CG8043 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F39H2.3 35
  • 40.86 (n)
  • 34.63 (a)
F39H2.3 36
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IBA57 36
  • 20 (a)
OneToOne
IBA57 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12130 35
  • 45.37 (n)
  • 38.13 (a)
rice
(Oryza sativa)
Liliopsida Os06g0134800 35
  • 47.19 (n)
  • 39.06 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06424 35
  • 50.96 (n)
  • 41.01 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC21E11.07 35
  • 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
rs2298014 - 228,174,981(-) CCGGC(C/T)CCCGG reference, missense
VAR_069821 Multiple mitochondrial dysfunctions syndrome 3 (MMDS3)
rs1143272 -- 228,178,306(+) GGGCG(G/T)GTGTA intron-variant, utr-variant-3-prime
rs947083 -- 228,179,112(-) TTTTG(A/G)TATCT intron-variant, utr-variant-3-prime
rs1059777 -- 228,184,189(+) ccccc(A/C/T)ggggt 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

Variation tolerance for IBA57 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IBA57 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IBA57 Gene

Disorders for IBA57 Gene

MalaCards: The human disease database

(5) MalaCards diseases for IBA57 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 3
  • mmds3
spastic paraplegia 74, autosomal recessive
  • spg74
hypotonia-cerebral atrophy-hyperglycinemia syndrome
  • fatal multiple mitochondrial dysfunction syndrome type 3
multiple mitochondrial dysfunctions syndrome
  • multiple mitochondrial dysfunctions syndrome 1
glycine encephalopathy
  • non-ketotic hyperglycinemia
- elite association - COSMIC cancer census association via MalaCards
Search IBA57 in MalaCards View complete list of genes associated with diseases

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.
  • Spastic paraplegia 74, autosomal recessive (SPG74) [MIM:616451]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood. {ECO:0000269 PubMed:25609768}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IBA57

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IBA57
genes like me logo Genes that share disorders with IBA57: view

No data available for Genatlas for IBA57 Gene

Publications for IBA57 Gene

  1. 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) 2 3 4 67
  2. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. (PMID: 25609768) Lossos A. … Lill R. (Neurology 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. (PMID: 25971455) Debray F.G. … van Coster R. (J. Inherit. Metab. Dis. 2015) 3

Products for IBA57 Gene

Sources for IBA57 Gene

Content