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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IBA57 Gene

protein-coding   GIFtS: 42
GCID: GC01P228354

IBA57, Iron-Sulfur Cluster Assembly Homolog (S. Cerevisiae)

(Previous name: chromosome 1 open reading frame 69)
(Previous symbol: C1orf69)
  Search for IBA57
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
IBA57, Iron-Sulfur Cluster Assembly Homolog (S. Cerevisiae)1 2     MMDS32
C1orf691 2 3     Iron-Sulfur Cluster Assembly Factor For Biotin Synthase- And
Aconitase-Like Mitochondrial Proteins, With A Mass Of 57kDa2
Iron-Sulfur Cluster Assembly Factor Homolog2 3     Putative Transferase C1orf69, Mitochondrial2
Chromosome 1 Open Reading Frame 691     Putative Transferase CAF17, Mitochondrial2
Iron-Sulfur Cluster Assembly Factor For Biotin Synthase- And
Aconitase-Like Mitochondrial Proteins1
     EC 2.1.-.-3
With A Mass Of 57kDa1     

External Ids:    HGNC: 273021   Entrez Gene: 2002052   Ensembl: ENSG000001818737   OMIM: 6153165   UniProtKB: Q5T4403   

Export aliases for IBA57 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for IBA57 Gene: 
IBA57 (IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include aminomethyltransferase activity.

UniProtKB/Swiss-Prot: CAF17_HUMAN, Q5T440
Function: Required for normal heme biosynthesis (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IBA57
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for IBA57

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IBA57


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q42.13

IBA57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IBA57 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P228354:  view genomic region     (about GC identifiers)

Start:
228,353,429 bp from pter      End:
228,369,958 bp from pter
Size:
16,530 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAF17_HUMAN, Q5T440 (See protein sequence)
Recommended Name: Putative transferase CAF17, mitochondrial precursor  
Size: 356 amino acids; 38155 Da
Subcellular location: Mitochondrion (Potential)

Explore the universe of human proteins at neXtProt for IBA57: NX_Q5T440

Explore proteomics data for IBA57 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5T440

  • IBA57 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IBA57 Protein Expression
    REFSEQ proteins: NP_001010867.1  
    ENSEMBL proteins: 
     ENSP00000355672   ENSP00000437347  

    Human Recombinant Protein Products for IBA57: 
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    Novus Biologicals IBA57 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IBA57 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--

    IBA57 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for IBA57


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006222 GCV_T_N
     IPR017703 YgfZ/GcvT_CS
     IPR013977 GCV_T_C

    Graphical View of Domain Structure for InterPro Entry Q5T440

    ProtoNet protein and cluster: Q5T440

    UniProtKB/Swiss-Prot: CAF17_HUMAN, Q5T440
    Similarity: Belongs to the GcvT family. CAF17 subfamily


    IBA57 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAF17_HUMAN, Q5T440
    Function: Required for normal heme biosynthesis (By similarity)

         Enzyme Number (IUBMB): EC 2.1.-.-1

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
         
    IBA57 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for IBA57:
     Decreased Wnt reporter activit  Decreased cell number 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IBA57 
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    hsa-miR-1233 hsa-miR-4252 hsa-miR-1827
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IBA57


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IBA57

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for IBA57 (Q5T4403 ENSP000003556724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MINOS1Q5TGZ03, ENSP000003255624I2D: score=1 STRING: ENSP00000325562
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006546glycine catabolic process IEA--
    GO:0006783heme biosynthetic process IEA--

    IBA57 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IBA57 (CAF17)

    Search CenterWatch for drugs/clinical trials and news about IBA57 / CAF17

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IBA57 gene: 
    NM_001010867.2  

    Unigene Clusters for IBA57:

    IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
    Hs.237017  [show with all ESTs], Hs.636881
    Unigene Representative Sequences: NM_001010867, AK023911
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366711(uc001hsl.4 uc010pvw.2) ENST00000484749 ENST00000546123

    miRNA
    Products:
         
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate IBA57:
    hsa-miR-1233 hsa-miR-4252 hsa-miR-1827
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional mRNA sequence: AK023911.1 

    6 DOTS entries:

    DT.100733224  DT.75100419  DT.91922644  DT.91731859  DT.40130573  DT.100826912 

    24/43 AceView cDNA sequences (see all 43):

    CR615475 AI953035 AL583557 BQ023080 BC028052 BF592160 BG697277 AI038116 
    AW104050 BQ647940 BI820993 CB240803 BQ023708 BG421070 AK022796 BM549285 
    BM048834 AA831498 AW044301 BX378102 BM549690 AA738352 BG248098 AI341184 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IBA57 expression in normal human tissues (normalized intensities)      IBA57 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IBA57 Expression
    About this image


    IBA57 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow

    See IBA57 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IBA57

    SOURCE GeneReport for Unigene clusters: Hs.237017 Hs.636881
        SABiosciences Custom PCR Arrays for IBA57
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for IBA57
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IBA57
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IBA57

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IBA57 gene from 9/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Iba571 , 5 RIKEN cDNA A230051G13 gene5
    IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)1
    76.97(n)1
    71.07(a)1
      11 (36.97 cM)5
    2167921  NM_173785.61  NP_776146.11 
     591553695 
    chicken
    (Gallus gallus)
    Aves IBA571 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 61.86(n)
    57.37(a)
      420396  NM_001030958.2  NP_001026129.2 
    lizard
    (Anolis carolinensis)
    Reptilia IBA576
    Uncharacterized protein
    47(a)
    1 ↔ 1
    6(3159478-3163549)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.143232 Transcribed sequence with weak similarity to protein more 76.62(n)    BI670948.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80431 CG8043 48.86(n)
    37.99(a)
      41030  NM_141557.1  NP_649814.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F39H2.31 Protein F39H2.3 39.71(n)
    33.59(a)
      172668  NM_059945.4  NP_492346.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IBA57(YJR122W)4 Mitochondrial matrix protein involved in the incorporation more   --   10(649776-651269) 853586  NP_012656.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G121301 glycine cleavage T-protein family protein 45.12(n)
    38.72(a)
      826821  NM_117283.2  NP_192950.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g01348001 hypothetical protein 48.52(n)
    41.14(a)
      4340033  NM_001063253.1  NP_001056718.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/380 SNPs in IBA57 are shown (see all 380)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1911989971,2
    --228354590(+) TCTCTG/TCAGCT 1 -- int10--------
    rs1461145551,2
    --228354591(+) CTCTTA/CAGCTT 1 -- int10--------
    rs574502431,2
    C,F--228354636(+) TTTTAG/ATGACT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1425706401,2
    --228354754(+) ATGTTA/CACATC 1 -- int10--------
    rs1807085371,2
    --228354827(+) GAACTC/GTGTTT 1 -- int10--------
    rs1509498461,2
    --228354905(+) TTTCCA/GTATCA 1 -- int10--------
    rs1161250891,2
    C,F--228354966(+) AATACG/AGCCCT 1 -- int11Minor allele frequency- A:0.03NA 120
    rs727578041,2
    --228354969(+) ACGGCC/TCTGAG 1 -- int10--------
    rs1147071591,2
    C,F--228354996(+) TGCCGG/ATGTTT 1 -- int11Minor allele frequency- A:0.09WA 118
    rs1165930791,2
    C,F--228355027(+) CCCCAC/TCCGTT 1 -- int11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for IBA57 (228353429 - 228369958 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for IBA57 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1008511CNV Deletion20482838
    esv4840CNV Deletion18987735
    esv2724262CNV Deletion23290073
    esv2724273CNV Deletion23290073
    esv1771567CNV Deletion17803354
    dgv538n71CNV Loss21882294
    nsv827019CNV Loss20364138
    nsv873256CNV Loss21882294
    nsv523935CNV Loss19592680
    nsv873257CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    IBA57 for disorders           About MalaCards
    OMIM gene information: 615316    OMIM disorders: --


    IBA57 for disorders           About GeneDecksing


    Export disorders for IBA57 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IBA57 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IBA57)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. The human mitochondrial ISCA1, ISCA2, and IBA57 protei ns are required for [4Fe-4S] protein maturation. (PubMed id 22323289)1 Sheftel A.D....Lill R. (2012)
    3. MINOS1 is a conserved component of mitofilin complexe s and required for mitochondrial function and cristae organization. (PubMed id 22114354)1 Alkhaja A.K....Deckers M. (2012)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Discovery of genes essential for heme biosynthesis th rough large-scale gene expression analysis. (PubMed id 19656490)1 Nilsson R....Mootha V.K. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 200205 HGNC: 27302 AceView: LOC200205 Ensembl:ENSG00000181873 euGenes: HUgn200205
    ECgene: IBA57 H-InvDB: IBA57

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IBA57 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IBA57 gene:
    Search GeneIP for patents involving IBA57

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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