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

Gene ID: 200205, updated on 13-Mar-2020

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
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

Genomic context

See IBA57 in Genome Data Viewer
Location:
1q42.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (228165804..228182257)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228353429..228369958)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gap junction protein gamma 2 Neighboring gene IBA57 divergent transcript Neighboring gene OBSCN antisense RNA 1 Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene Sharpr-MPRA regulatory region 4086

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12734, FLJ13849

Gene Ontology Provided by GOA

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

General protein information

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)

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_001010867.4NP_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:41353
    YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]
    TIGR03317
    Location:217284
    ygfZ_signature; folate-binding protein YgfZ
    pfam08669
    Location:258350
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
    cl01893
    Location:59163
    GCV_T; Aminomethyltransferase folate-binding domain
  2. NM_001310327.2NP_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
    TIGR03317
    Location:2491
    ygfZ_signature; folate-binding protein YgfZ
    pfam08669
    Location:65157
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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