Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Iron-sulfur cluster assembly 2 homolog, mitochondrial

Gene

ISCA2

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. May be involved in the binding of an intermediate of Fe/S cluster assembly.1 Publication

Caution

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi79IronBy similarity1
Metal bindingi144IronBy similarity1
Metal bindingi146IronBy 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 2 homolog, mitochondrial
Alternative name(s):
HESB-like domain-containing protein 1
Gene namesi
Name:ISCA2
Synonyms:HBLD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000165898.13
HGNCiHGNC:19857 ISCA2
MIMi615317 gene
neXtProtiNX_Q86U28

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 4 (MMDS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death.
See also OMIM:616370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07379477G → S in MMDS4. 1 PublicationCorresponds to variant dbSNP:rs730882246Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi122961
MalaCardsiISCA2
MIMi616370 phenotype
OpenTargetsiENSG00000165898
PharmGKBiPA162392315

Polymorphism and mutation databases

DMDMi125950361

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 8MitochondrionSequence analysis8
ChainiPRO_00002775889 – 154Iron-sulfur cluster assembly 2 homolog, mitochondrialAdd BLAST146

Proteomic databases

EPDiQ86U28
MaxQBiQ86U28
PaxDbiQ86U28
PeptideAtlasiQ86U28
PRIDEiQ86U28

PTM databases

iPTMnetiQ86U28
PhosphoSitePlusiQ86U28

Expressioni

Gene expression databases

BgeeiENSG00000165898
CleanExiHS_ISCA2
ExpressionAtlasiQ86U28 baseline and differential
GenevisibleiQ86U28 HS

Organism-specific databases

HPAiHPA030492

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
RNF41Q9H4P45EBI-10258659,EBI-2130266

Protein-protein interaction databases

BioGridi12580831 interactors.
IntActiQ86U28 9 interactors.
STRINGi9606.ENSP00000452007

Structurei

3D structure databases

ProteinModelPortaliQ86U28
SMRiQ86U28
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the HesB/IscA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1119 Eukaryota
COG0316 LUCA
GeneTreeiENSGT00390000005700
HOGENOMiHOG000228313
HOVERGENiHBG081810
InParanoidiQ86U28
KOiK22072
OMAiFRMVANP
OrthoDBiEOG091G0XVD
PhylomeDBiQ86U28
TreeFamiTF314519

Family and domain databases

Gene3Di2.60.300.121 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: Q86U28-1) [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
MAAAWGSSLT AATQRAVTPW PRGRLLTASL GPQARREASS SSPEAGEGQI
60 70 80 90 100
RLTDSCVQRL LEITEGSEFL RLQVEGGGCS GFQYKFSLDT VINPDDRVFE
110 120 130 140 150
QGGARVVVDS DSLAFVKGAQ VDFSQELIRS SFQVLNNPQA QQGCSCGSSF

SIKL
Length:154
Mass (Da):16,476
Last modified:February 6, 2007 - v2
Checksum:iD6D16E4451F04625
GO
Isoform 2 (identifier: Q86U28-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     59-60: RL → GI
     61-154: Missing.

Note: No experimental confirmation available. Derived from EST data.
Show »
Length:60
Mass (Da):6,211
Checksum:i99D91443EE8AC897
GO

Sequence cautioni

The sequence CAD62580 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51R → C in AAH32893 (PubMed:15489334).Curated1
Sequence conflicti108V → F in AAH15771 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07379477G → S in MMDS4. 1 PublicationCorresponds to variant dbSNP:rs730882246Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05569159 – 60RL → GI in isoform 2. Curated2
Alternative sequenceiVSP_05569261 – 154Missing in isoform 2. CuratedAdd BLAST94

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX248252 mRNA Translation: CAD62580.1 Different initiation.
AK290728 mRNA Translation: BAF83417.1
AC005479 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81180.1
BC015771 mRNA Translation: AAH15771.2
BC032893 mRNA Translation: AAH32893.1
CCDSiCCDS32122.1 [Q86U28-1]
CCDS61504.1 [Q86U28-2]
RefSeqiNP_001258936.1, NM_001272007.1 [Q86U28-2]
NP_919255.2, NM_194279.3 [Q86U28-1]
UniGeneiHs.291079

Genome annotation databases

EnsembliENST00000554924; ENSP00000450523; ENSG00000165898 [Q86U28-2]
ENST00000556816; ENSP00000452007; ENSG00000165898 [Q86U28-1]
GeneIDi122961
KEGGihsa:122961
UCSCiuc001xpz.4 human [Q86U28-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiISCA2_HUMAN
AccessioniPrimary (citable) accession number: Q86U28
Secondary accession number(s): A6NFF1
, A8K3W3, G3V291, Q8IYZ0, Q96BB2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: April 25, 2018
This is version 117 of the entry and version 2 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