IBA57

Protein identityUniProt · HPA

UniProt accession

Q5T440

Gene

IBA57

Ensembl

ENSG00000181873

Chromosome

1

Canonical length

356 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

356 residues, UniProt reviewed canonical sequence.

>Q5T440|IBA57
     1  MATAALLRGA TPGRGGPVWR WRLRAAPRCR LAHSSCSPGG DPTAGAAWAC FRLDGRTLLR
    61  VRGPDAAPFL LGLLTNELPL PSPAAAGAPP AARAGYAHFL NVQGRTLYDV ILYGLQEHSE
   121  VSGFLLECDS SVQGALQKHL ALYRIRRKVT VEPHPELRVW AVLPSSPEAC GAASLQERAG
   181  AAAILIRDPR TARMGWRLLT QDEGPALVPG GRLGDLWDYH QHRYLQGVPE GVRDLPPGVA
   241  LPLESNLAFM NGVSFTKGCY IGQELTARTH HMGVIRKRLF PVRFLDPLPT SGITPGATVL
   301  TASGQTVGKF RAGQGNVGLA LLWSEKIKGP LHIRASEGAQ VALAASVPDW WPTVSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IBA57 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

5.6 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IBA57.

Disease | AllUniProt

Conditions IBA57 is implicated in, by any mechanism.

• Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) MIM:615330
• Spastic paraplegia 74, autosomal recessive (SPG74) MIM:616451

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 345 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Multiple mitochondrial dysfunctions syndrome 3
• Hereditary spastic paraplegia 74
• Inborn genetic diseases
• IBA57-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.96

gnomAD pLI

0.01

gnomAD missense Z

-0.57

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• heme biosynthetic process
• iron-sulfur cluster assembly

Molecular functions

• RNA binding

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Aminomethyltransferase superfamily
• YgfZ/CAF17, C-terminal
• YgfZ/GcvT
• CAF17, C-terminal domain
• CAF17, C-terminal beta-barrel domain

KeywordsUniProt

• Acetylation
• Heme biosynthesis
• Hereditary spastic paraplegia
• Mitochondrion
• Neurodegeneration
• Primary mitochondrial disease
• Transit peptide