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Protein

Iron-sulfur cluster assembly 1 homolog, mitochondrial

Gene

ISCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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. Probably involved in the binding of an intermediate of Fe/S cluster assembly.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi57 – 571IronBy similarity
Metal bindingi121 – 1211IronBy similarity
Metal bindingi123 – 1231IronBy similarity

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 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

HGNCiHGNC:28660. ISCA1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162392301.

Polymorphism and mutation databases

BioMutaiISCA1.
DMDMi74761270.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1212MitochondrionSequence analysisAdd
BLAST
Chaini13 – 129117Iron-sulfur cluster assembly 1 homolog, mitochondrialPRO_0000042734Add
BLAST

Proteomic databases

EPDiQ9BUE6.
MaxQBiQ9BUE6.
PaxDbiQ9BUE6.
PeptideAtlasiQ9BUE6.
PRIDEiQ9BUE6.

PTM databases

PhosphoSiteiQ9BUE6.

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. 27 interactions.
IntActiQ9BUE6. 4 interactions.
MINTiMINT-3042260.
STRINGi9606.ENSP00000365159.

Structurei

3D structure databases

ProteinModelPortaliQ9BUE6.
SMRiQ9BUE6. Positions 24-129.
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.
KOiK13628.
OMAiEYTMEYV.
OrthoDBiEOG091G0YHY.
PhylomeDBiQ9BUE6.
TreeFamiTF314956.

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: 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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MVAAGGGARTEGAVRRSLWR QCARRVHGEKLRRPTFGPRH RGAGTAKM in isoform 2. 1 PublicationVSP_057035

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. Translation: CAI14925.1.
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

Cross-referencesi

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. Translation: CAI14925.1.
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.

3D structure databases

ProteinModelPortaliQ9BUE6.
SMRiQ9BUE6. Positions 24-129.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123569. 27 interactions.
IntActiQ9BUE6. 4 interactions.
MINTiMINT-3042260.
STRINGi9606.ENSP00000365159.

PTM databases

PhosphoSiteiQ9BUE6.

Polymorphism and mutation databases

BioMutaiISCA1.
DMDMi74761270.

Proteomic databases

EPDiQ9BUE6.
MaxQBiQ9BUE6.
PaxDbiQ9BUE6.
PeptideAtlasiQ9BUE6.
PRIDEiQ9BUE6.

Protocols and materials databases

DNASUi81689.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi81689.
GeneCardsiISCA1.
H-InvDBHIX0008143.
HGNCiHGNC:28660. ISCA1.
HPAiHPA042789.
MIMi611006. gene.
neXtProtiNX_Q9BUE6.
PharmGKBiPA162392301.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1120. Eukaryota.
COG0316. LUCA.
GeneTreeiENSGT00490000043385.
HOGENOMiHOG000228314.
HOVERGENiHBG081809.
InParanoidiQ9BUE6.
KOiK13628.
OMAiEYTMEYV.
OrthoDBiEOG091G0YHY.
PhylomeDBiQ9BUE6.
TreeFamiTF314956.

Miscellaneous databases

GeneWikiiISCA1.
GenomeRNAii81689.
PROiQ9BUE6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135070.
CleanExiHS_ISCA1.
ExpressionAtlasiQ9BUE6. baseline and differential.
GenevisibleiQ9BUE6. 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 nameiISCA1_HUMAN
AccessioniPrimary (citable) accession number: Q9BUE6
Secondary accession number(s): B3KP34
, B4DJI5, Q8ND75, Q9BZR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: June 1, 2001
Last modified: September 7, 2016
This is version 121 of the entry and version 1 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.