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IBA57 iron-sulfur cluster assembly factor IBA57 [ Homo sapiens (human) ]

Gene ID: 200205, updated on 7-Apr-2024

Summary

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Official Symbol
IBA57provided by HGNC
Official Full Name
iron-sulfur cluster assembly factor IBA57provided by HGNC
Primary source
HGNC:HGNC:27302
See related
Ensembl:ENSG00000181873 MIM:615316; AllianceGenome:HGNC:27302
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MMDS3; SPG74; C1orf69
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 1.9), bone marrow (RPKM 1.8) and 25 other tissues See more
Orthologs
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Genomic context

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See IBA57 in Genome Data Viewer
Location:
1q42.13
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228165804..228182257)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227354800..227371041)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228353505..228369958)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228353090-228353992 Neighboring gene gap junction protein gamma 2 Neighboring gene IBA57 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12629 Neighboring gene uncharacterized LOC124904536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228380886-228381386 Neighboring gene OBSCN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1916 Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene uncharacterized LOC124904535

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. Hamanaka K, et al. J Hum Genet, 2018 Dec. PMID 30258207
  2. Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. Liu M, et al. Clin Genet, 2018 Feb. PMID 28671726
  3. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. Torraco A, et al. J Neurol, 2017 Jan. PMID 27785568
  4. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. Debray FG, et al. J Inherit Metab Dis, 2015 Nov. PMID 25971455
  5. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Lossos A, et al. Neurology, 2015 Feb 17. PMID 25609768

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery.
    Title: Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery.
  2. Combined with previously reported patient studies, our findings suggest that defects in IBA57 can produce diverse phenotypes. IBA57 should be considered a candidate gene for cavitating leukoencephalopathy
    Title: Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
  3. a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations.
    Title: Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
  4. Description of four unrelated patients carrying novel mutations in IBA57; study expands the array of the genotypic variation of IBA57 and delineates the leukodystrophic pattern of IBA57 deficient patients
    Title: Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
  5. Findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in hereditary spastic paraplegia
    Title: Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
  6. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
    Title: Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
  7. ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis.
    Title: The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Required for functional heme biosynthesis in erythroid cells.
    Title: Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spastic paraplegia 74
MedGen: C5568837 OMIM: 616451 GeneReviews: Not available
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Multiple mitochondrial dysfunctions syndrome 3
MedGen: C3809165 OMIM: 615330 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12734, FLJ13849

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in heme biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
putative transferase CAF17, mitochondrial
Names
IBA57 homolog, iron-sulfur cluster assembly
IBA57, iron-sulfur cluster assembly homolog
iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
putative transferase C1orf69, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042231.1 RefSeqGene

    Range
    4997..21450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010867.4 → NP_001010867.1  putative transferase CAF17, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001010867.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL359510, BI820993, HY081013
    Consensus CDS
    CCDS31046.1
    UniProtKB/Swiss-Prot
    Q5T440
    Related
    ENSP00000355672.3, ENST00000366711.4
    Conserved Domains (4) summary
    COG0354
    Location:41 → 353
    YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]
    TIGR03317
    Location:217 → 284
    ygfZ_signature; folate-binding protein YgfZ
    pfam08669
    Location:258 → 350
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
    cl01893
    Location:59 → 163
    GCV_T; Aminomethyltransferase folate-binding domain

  2. NM_001310327.2 → NP_001297256.1  putative transferase CAF17, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001297256.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon and initiates translation from a downstream in-frame start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK303837, AL359510
    UniProtKB/TrEMBL
    B4E1G9
    Conserved Domains (2) summary
    COG0354
    Location:16 → 160
    YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]
    TIGR03317
    Location:24 → 91
    ygfZ_signature; folate-binding protein YgfZ

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    228165804..228182257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    227354800..227371041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T440.1 GenPept UniProtKB/Swiss-Prot:Q5T440

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