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Aliases for IBA57 Gene

Aliases for IBA57 Gene

  • IBA57, 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
  • IBA57 Homolog, Iron-Sulfur Cluster Assembly 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, 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. Gene Ontology (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.

Additional gene information for IBA57 Gene

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

GeneHancer (GH) Regulatory Elements for IBA57 Gene

Promoters and enhancers for IBA57 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J228161 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 660.8 -1.1 -1146 6.2 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC GLIS1 IBA57 GC01P228168 IBA57-DT PIR46737 OBSCN CICP26 PRSS38 ENSG00000269890 C1orf35 LOC100421842
GH01J227562 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 10.1 -601.9 -601857 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZNF678 CICP26 C1orf35 HIST3H3 ENSG00000269890 IBA57 CDC42BPA SNAP47 MRPL57P2
GH01J227942 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 7.7 -220.0 -220011 6 ARNT SIN3A ZNF2 ZBTB7B ZNF48 YY1 ZNF121 GLIS2 ELK1 ARID2 WNT9A OBSCN-AS1 WNT3A OBSCN IBA57 ENSG00000269934 MRPL55 MIR5008
GH01J228147 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 -15.4 -15377 5 PKNOX1 ARID4B KLF17 KLF14 ZNF614 GLIS2 EGR2 SP5 ZBTB25 REST GJC2 OBSCN-AS1 OBSCN IBA57 ENSG00000269934 GUK1 GC01P228162
GH01J227765 Enhancer 1.1 FANTOM5 Ensembl ENCODE 2.5 -399.7 -399659 1.9 PKNOX1 CLOCK MAX FEZF1 ZIC2 CTBP1 GATA3 POLR2A FOS HES1 SNAP47 IBA57 SNAP47-AS1 LOC105373289
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IBA57 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IBA57 Gene

Genomic Locations for IBA57 Gene
chr1:228,165,728-228,197,905
(GRCh38/hg38)
Size:
32,178 bases
Orientation:
Plus strand
chr1:228,353,429-228,369,958
(GRCh37/hg19)
Size:
16,530 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

Gene Families for IBA57 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for IBA57 Gene

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

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 HDA 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

miRNA for IBA57 Gene

miRTarBase miRNAs that target IBA57

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IBA57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
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

mRNA/cDNA for IBA57 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(43) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IBA57 Gene

IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae):
Representative Sequences:

Clone 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, 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
Regions:
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

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 33
  • 98.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IBA57 34 33
  • 78.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IBA57 34
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iba57 16 34 33
  • 76.97 (n)
rat
(Rattus norvegicus)
Mammalia Iba57 33
  • 75.94 (n)
oppossum
(Monodelphis domestica)
Mammalia IBA57 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves IBA57 34 33
  • 62.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IBA57 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iba57 33
  • 57.45 (n)
zebrafish
(Danio rerio)
Actinopterygii iba57 34 33
  • 54.71 (n)
OneToOne
Dr.14323 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12169 33
fruit fly
(Drosophila melanogaster)
Insecta CG8043 34 33
  • 48.98 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F39H2.3 33
  • 40.86 (n)
F39H2.3 34
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IBA57 36 34
  • 20 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12130 33
  • 45.37 (n)
rice
(Oryza sativa)
Liliopsida Os06g0134800 33
  • 47.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06424 33
  • 50.96 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC21E11.07 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IBA57: view image

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 Variation AA Info Type
rs1035428169 likely-pathogenic, Multiple mitochondrial dysfunctions syndrome 3 228,165,983(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs13375853 benign, likely-benign, not specified, Multiple mitochondrial dysfunctions syndrome 3, Spastic paraplegia 74, autosomal recessive 228,166,080(+) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs138699407 likely-benign, Multiple mitochondrial dysfunctions syndrome 3, Spastic paraplegia 74, autosomal recessive 228,175,243(+) C/T coding_sequence_variant, synonymous_variant
rs143575106 likely-pathogenic, Multiple mitochondrial dysfunctions syndrome 3 228,175,268(+) C/T coding_sequence_variant, missense_variant
rs200319163 likely-benign, Multiple mitochondrial dysfunctions syndrome 3, Spastic paraplegia 74, autosomal recessive 228,175,389(+) A/C coding_sequence_variant, missense_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)

Additional Variant Information for IBA57 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IBA57 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for 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 AD … Lill R (Molecular biology of the cell 2012) 2 3 4 58
  2. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. (PMID: 25609768) Lossos A … Lill R (Neurology 2015) 3 4 58
  3. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. (PMID: 23462291) Ajit Bolar N … Van Coster R (Human molecular genetics 2013) 3 4 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for IBA57 Gene

Sources for IBA57 Gene

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