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Protein

Iron-sulfur cluster assembly 2 homolog, mitochondrial

Gene

ISCA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi79IronBy similarity1
Metal bindingi144IronBy similarity1
Metal bindingi146IronBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Iron, Iron-sulfur, Metal-binding

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

HGNCiHGNC:19857. ISCA2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs730882246dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi122961.
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
RNF41Q9H4P43EBI-10258659,EBI-2130266

Protein-protein interaction databases

BioGridi125808. 3 interactors.
IntActiQ86U28. 1 interactor.
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.
OMAiTHPDDRV.
OrthoDBiEOG091G0XVD.
PhylomeDBiQ86U28.
TreeFamiTF314519.

Family and domain databases

Gene3Di2.60.300.12. 1 hit.
InterProiIPR000361. FeS_biogenesis.
IPR016092. FeS_cluster_insertion.
IPR017870. FeS_cluster_insertion_CS.
[Graphical view]
PfamiPF01521. Fe-S_biosyn. 1 hit.
[Graphical view]
SUPFAMiSSF89360. SSF89360. 1 hit.
TIGRFAMsiTIGR00049. TIGR00049. 1 hit.
PROSITEiPS01152. HESB. 1 hit.
[Graphical view]

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 rs730882246dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ86U28.
SMRiQ86U28.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125808. 3 interactors.
IntActiQ86U28. 1 interactor.
STRINGi9606.ENSP00000452007.

PTM databases

iPTMnetiQ86U28.
PhosphoSitePlusiQ86U28.

Polymorphism and mutation databases

DMDMi125950361.

Proteomic databases

EPDiQ86U28.
MaxQBiQ86U28.
PaxDbiQ86U28.
PeptideAtlasiQ86U28.
PRIDEiQ86U28.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi122961.
DisGeNETi122961.
GeneCardsiISCA2.
HGNCiHGNC:19857. ISCA2.
HPAiHPA030492.
MIMi615317. gene.
616370. phenotype.
neXtProtiNX_Q86U28.
OpenTargetsiENSG00000165898.
PharmGKBiPA162392315.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1119. Eukaryota.
COG0316. LUCA.
GeneTreeiENSGT00390000005700.
HOGENOMiHOG000228313.
HOVERGENiHBG081810.
InParanoidiQ86U28.
OMAiTHPDDRV.
OrthoDBiEOG091G0XVD.
PhylomeDBiQ86U28.
TreeFamiTF314519.

Miscellaneous databases

GenomeRNAii122961.
PROiQ86U28.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165898.
CleanExiHS_ISCA2.
ExpressionAtlasiQ86U28. baseline and differential.
GenevisibleiQ86U28. HS.

Family and domain databases

Gene3Di2.60.300.12. 1 hit.
InterProiIPR000361. FeS_biogenesis.
IPR016092. FeS_cluster_insertion.
IPR017870. FeS_cluster_insertion_CS.
[Graphical view]
PfamiPF01521. Fe-S_biosyn. 1 hit.
[Graphical view]
SUPFAMiSSF89360. SSF89360. 1 hit.
TIGRFAMsiTIGR00049. TIGR00049. 1 hit.
PROSITEiPS01152. HESB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiISCA2_HUMAN
AccessioniPrimary (citable) accession number: Q86U28
Secondary accession number(s): A6NFF1
, A8K3W3, G3V291, Q8IYZ0, Q96BB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 30, 2016
This is version 108 of the entry and version 2 of the sequence. [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 14
    Human chromosome 14: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.