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Aliases for IBA57 Gene

Aliases for IBA57 Gene

  • IBA57 Homolog, Iron-Sulfur Cluster Assembly 2 3 5
  • Iron-Sulfur Cluster Assembly Factor For Biotin Synthase- And Aconitase-Like Mitochondrial Proteins, With A Mass Of 57kDa 2 3
  • C1orf69 3 4
  • 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
  • Putative Transferase CAF17, Mitochondrial 3
  • Chromosome 1 Open Reading Frame 69 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G227942 1.4 ENCODE dbSUPER 7.7 -220.0 -220012 6.0 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 FOS OBSCN-AS1 WNT3A OBSCN IBA57 ENSG00000269934 MRPL55 MIR5008 WNT9A
GH01G228147 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.5 -15.4 -15377 5.0 HDAC1 PKNOX1 RB1 CREB3L1 AGO1 ARID4B KLF17 RAD21 GLIS2 PCBP1 GJC2 OBSCN-AS1 OBSCN IBA57 ENSG00000269934 GC01P228162
GH01G227765 1.6 FANTOM5 Ensembl ENCODE 2.5 -399.7 -399659 1.9 HDGF PKNOX1 ZNF133 GLI4 FEZF1 ZNF48 ZNF2 GLIS2 FOS ZNF263 C1orf35 JMJD4 ENSG00000231563 SNAP47 IBA57 SNAP47-AS1 LOC105373289
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000021272 172 1401 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

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

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

Gene Ontology (GO) - Molecular Function for IBA57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with IBA57: view
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

CRISPR Products

miRNA for IBA57 Gene

miRTarBase miRNAs that target IBA57

Inhibitory RNA Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IBA57 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for IBA57 Gene

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

Pathways & Interactions 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:0006783 heme biosynthetic process IEA --
GO:0016226 iron-sulfur cluster assembly IBA --
genes like me logo Genes that share ontologies with IBA57: view

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IBA57 Gene



Protein tissue co-expression partners for IBA57 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IBA57 Gene:

IBA57

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).

Evidence on tissue expression from TISSUES for IBA57 Gene

  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IBA57 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • breast
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with IBA57: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia IBA57 34 35
  • 98.41 (n)
cow
(Bos Taurus)
Mammalia IBA57 34 35
  • 78.74 (n)
dog
(Canis familiaris)
Mammalia IBA57 35
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iba57 34 16 35
  • 76.97 (n)
rat
(Rattus norvegicus)
Mammalia Iba57 34
  • 75.94 (n)
oppossum
(Monodelphis domestica)
Mammalia IBA57 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves IBA57 34 35
  • 62.66 (n)
lizard
(Anolis carolinensis)
Reptilia IBA57 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iba57 34
  • 57.45 (n)
zebrafish
(Danio rerio)
Actinopterygii iba57 34 35
  • 54.71 (n)
Dr.14323 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12169 34
fruit fly
(Drosophila melanogaster)
Insecta CG8043 34 35
  • 48.98 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F39H2.3 34
  • 40.86 (n)
F39H2.3 35
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IBA57 35 37
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12130 34
  • 45.37 (n)
rice
(Oryza sativa)
Liliopsida Os06g0134800 34
  • 47.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06424 34
  • 50.96 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC21E11.07 34
  • 43.45 (n)
Species where no ortholog for IBA57 was found in the sources mined by GeneCards:
  • 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
rs587777016 Pathogenic, Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330] 228,175,383(+) TGGCC(A/C)GGGCA reference, missense
rs876657407 Pathogenic 228,175,028(+) CTGCA(A/G)GGTAT reference, synonymous-codon
rs1000059407 -- 228,173,817(+) TACTC(C/T)GGATG intron-variant, upstream-variant-2KB
rs1000132634 -- 228,175,684(+) TGCTC(A/G)GGGGC utr-variant-3-prime
rs1000298503 -- 228,170,573(+) CGGGC(A/C)TGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv839n54 CNV loss 21841781
esv1008511 CNV deletion 20482838
esv1771567 CNV deletion 17803354
esv2724262 CNV deletion 23290073
esv2724273 CNV deletion 23290073
esv32853 CNV gain 17666407
esv3589046 CNV loss 21293372
esv4840 CNV loss 18987735
nsv1068566 CNV deletion 25765185
nsv1068939 CNV deletion 25765185
nsv1160102 CNV deletion 26073780
nsv523935 CNV loss 19592680
nsv826908 CNV gain 20364138
nsv827019 CNV loss 20364138
nsv952137 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
IBA57
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IBA57

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

Disorders for IBA57 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 3
  • mmds3
spastic paraplegia 74, autosomal recessive
  • hereditary spastic paraplegia 74
multiple mitochondrial dysfunctions syndrome
  • fatal multiple mitochondrial dysfunction syndrome
- 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 64
  2. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. (PMID: 25609768) Lossos A. … Lill R. (Neurology 2015) 3 4 64
  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 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. (PMID: 27785568) Torraco A. … Carrozzo R. (J. Neurol. 2017) 3 64

Products for IBA57 Gene

Sources for IBA57 Gene

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