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

Summary

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: mouse all
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Genomic context

Location:: 1q42.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (228165804..228182257)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (227354800..227371041)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (228353505..228369958)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.
Title: Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.
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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Required for functional heme biosynthesis in erythroid cells.
Title: Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.

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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	Compare labs
Multiple mitochondrial dysfunctions syndrome 3 MedGen: C3809165 OMIM: 615330 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1423 (e-PCR)
- UniSTS:149619

G35510 (e-PCR)
- UniSTS:44150

RH102389 (e-PCR)
- UniSTS:96723

NoName (e-PCR)
- UniSTS:489686

RH104454 (e-PCR)
- UniSTS:98778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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	HTP more info	PubMed
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

NG_042231.1 RefSeqGene

Range

4997..21450

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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