Seroatlas · Human Serome Atlas

ISCA1

Iron-sulfur cluster assembly 1 homolog, mitochondrial

Also known as: HBLD2, hIscA, ISA1, ISCA1_HUMAN, MGC4276

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BUE6
Gene
ISCA1
Ensembl
ENSG00000135070
Chromosome
9
Canonical length
129 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

129 residues, UniProt reviewed canonical sequence.

>Q9BUE6|ISCA1
     1  MSASLVRATV RAVSKRKLQP TRAALTLTPS AVNKIKQLLK DKPEHVGVKV GVRTRGCNGL
    61  SYTLEYTKTK GDSDEEVIQD GVRVFIEKKA QLTLLGTEMD YVEDKLSSEF VFNNPNIKGT
   121  CGCGESFNI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ISCA1 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)
0.4
Highest tissue expression
99 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 99 nTPM
  • skeletal muscle: 86 nTPM
  • bone marrow: 71 nTPM
  • heart muscle: 58 nTPM
  • kidney: 56 nTPM
  • parathyroid gland: 51 nTPM

Single-cell type

  • early spermatids: 896 nCPM
  • late spermatids: 770 nCPM
  • megakaryocytes: 408 nCPM
  • late primary spermatocytes: 322 nCPM
  • platelets: 307 nCPM
  • erythrocytes: 192 nCPM

Immune cell

  • basophil: 45 nTPM
  • eosinophil: 29 nTPM
  • T-reg: 29 nTPM
  • naive CD4 T-cell: 25 nTPM
  • naive CD8 T-cell: 24 nTPM
  • MAIT T-cell: 23 nTPM

Brain region

  • cerebral cortex: 69 nTPM
  • cerebellum: 68 nTPM
  • pons: 67 nTPM
  • hypothalamus: 66 nTPM
  • midbrain: 65 nTPM
  • thalamus: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ISCA1.

Disease | AllUniProt

Conditions ISCA1 is implicated in, by any mechanism.

  • Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) MIM:617613

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 42 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Multiple mitochondrial dysfunctions syndrome 5

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)
0.99
gnomAD pLI
0.17
gnomAD missense Z
0.78
DepMap mean gene effect
-0.35
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ISCA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ISCA1 as an antibody target. Whether an autoantibody or antibody against ISCA1 could matter depends on whether native ISCA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ISCA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ISCA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ISCA1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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