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Protein

Iron-sulfur cluster assembly 1 homolog, mitochondrial

Gene

ISCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi57IronBy similarity1
Metal bindingi121IronBy similarity1
Metal bindingi123IronBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandIron, Iron-sulfur, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Iron-sulfur cluster assembly 1 homolog, mitochondrial
Alternative name(s):
HESB-like domain-containing protein 2
Iron-sulfur assembly protein IscA
Short name:
hIscA
Gene namesi
Name:ISCA1
Synonyms:HBLD2
ORF Names:GK004
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000135070.13
HGNCiHGNC:28660 ISCA1
MIMi611006 gene
neXtProtiNX_Q9BUE6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Multiple mitochondrial dysfunctions syndrome 5 (MMDS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise.
See also OMIM:617613
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07929687E → K in MMDS5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776679653EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiISCA1
MIMi617613 phenotype
OpenTargetsiENSG00000135070
PharmGKBiPA162392301

Polymorphism and mutation databases

BioMutaiISCA1
DMDMi74761270

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 12MitochondrionSequence analysisAdd BLAST12
ChainiPRO_000004273413 – 129Iron-sulfur cluster assembly 1 homolog, mitochondrialAdd BLAST117

Proteomic databases

EPDiQ9BUE6
MaxQBiQ9BUE6
PaxDbiQ9BUE6
PeptideAtlasiQ9BUE6
PRIDEiQ9BUE6

PTM databases

iPTMnetiQ9BUE6
PhosphoSitePlusiQ9BUE6

Expressioni

Tissue specificityi

Detected in cerebellum, kidney and heart.1 Publication

Gene expression databases

BgeeiENSG00000135070
CleanExiHS_ISCA1
ExpressionAtlasiQ9BUE6 baseline and differential
GenevisibleiQ9BUE6 HS

Organism-specific databases

HPAiHPA042789

Interactioni

Subunit structurei

Interacts with CRY2, but not with CRY1 (in vitro).1 Publication

Protein-protein interaction databases

BioGridi123569, 32 interactors
IntActiQ9BUE6, 7 interactors
MINTiQ9BUE6
STRINGi9606.ENSP00000365159

Structurei

3D structure databases

ProteinModelPortaliQ9BUE6
SMRiQ9BUE6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the HesB/IscA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1120 Eukaryota
COG0316 LUCA
GeneTreeiENSGT00490000043385
HOGENOMiHOG000228314
HOVERGENiHBG081809
InParanoidiQ9BUE6
KOiK22063
OMAiRTCGCGE
OrthoDBiEOG091G0YHY
PhylomeDBiQ9BUE6
TreeFamiTF314956

Family and domain databases

Gene3Di2.60.300.12, 1 hit
InterProiView protein in InterPro
IPR000361 FeS_biogenesis
IPR016092 FeS_cluster_insertion
IPR017870 FeS_cluster_insertion_CS
IPR035903 HesB-like_dom_sf
PfamiView protein in Pfam
PF01521 Fe-S_biosyn, 1 hit
SUPFAMiSSF89360 SSF89360, 1 hit
TIGRFAMsiTIGR00049 TIGR00049, 1 hit
PROSITEiView protein in PROSITE
PS01152 HESB, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BUE6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSASLVRATV RAVSKRKLQP TRAALTLTPS AVNKIKQLLK DKPEHVGVKV
60 70 80 90 100
GVRTRGCNGL SYTLEYTKTK GDSDEEVIQD GVRVFIEKKA QLTLLGTEMD
110 120
YVEDKLSSEF VFNNPNIKGT CGCGESFNI
Length:129
Mass (Da):14,179
Last modified:June 1, 2001 - v1
Checksum:i2CA45D7821A62C43
GO
Isoform 2 (identifier: Q9BUE6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MVAAGGGARTEGAVRRSLWRQCARRVHGEKLRRPTFGPRHRGAGTAKM

Note: No experimental confirmation available.
Show »
Length:176
Mass (Da):19,288
Checksum:iEBCF3924239D12AC
GO

Sequence cautioni

The sequence AAG59854 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAD39021 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07929687E → K in MMDS5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776679653EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0570351M → MVAAGGGARTEGAVRRSLWR QCARRVHGEKLRRPTFGPRH RGAGTAKM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY015642 mRNA Translation: AAG40950.1
AF284752 mRNA Translation: AAG59854.1 Different initiation.
AK055643 mRNA Translation: BAG51546.1
AK296093 mRNA Translation: BAG58847.1
AL834356 mRNA Translation: CAD39021.1 Different initiation.
AL137849 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62713.1
BC002675 mRNA Translation: AAH02675.1
BC071621 mRNA Translation: AAH71621.1
CCDSiCCDS35056.1 [Q9BUE6-1]
RefSeqiNP_112202.2, NM_030940.3 [Q9BUE6-1]
UniGeneiHs.449291

Genome annotation databases

EnsembliENST00000375991; ENSP00000365159; ENSG00000135070 [Q9BUE6-1]
GeneIDi81689
KEGGihsa:81689
UCSCiuc004aop.4 human [Q9BUE6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiISCA1_HUMAN
AccessioniPrimary (citable) accession number: Q9BUE6
Secondary accession number(s): B3KP34
, B4DJI5, Q8ND75, Q9BZR2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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