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ISCA1 iron-sulfur cluster assembly 1 [ Homo sapiens (human) ]

Gene ID: 81689, updated on 6-May-2021

Summary

Official Symbol
ISCA1provided by HGNC
Official Full Name
iron-sulfur cluster assembly 1provided by HGNC
Primary source
HGNC:HGNC:28660
See related
Ensembl:ENSG00000135070 MIM:611006
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ISA1; HBLD2; MMDS5; hIscA
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 27.0), brain (RPKM 25.4) and 25 other tissues See more
Orthologs
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Genomic context

See ISCA1 in Genome Data Viewer
Location:
9q21.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (86264546..86282538, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (88879461..88897453, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927623 Neighboring gene chromosome 4 open reading frame 3 pseudogene Neighboring gene chromosome 9 open reading frame 153 Neighboring gene RN7SK pseudogene 264 Neighboring gene terminal uridylyl transferase 7 Neighboring gene ribosomal protein S6 pseudogene 13

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4276

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in iron-sulfur cluster assembly TAS
Traceable Author Statement
more info
 
involved_in protein maturation by iron-sulfur cluster transfer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
iron-sulfur cluster assembly 1 homolog, mitochondrial
Names
HESB like domain containing 2
HESB-like domain-containing protein 2
iron-sulfur assembly protein IscA
NP_112202.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_030940.4NP_112202.2  iron-sulfur cluster assembly 1 homolog, mitochondrial precursor

    See identical proteins and their annotated locations for NP_112202.2

    Status: VALIDATED

    Source sequence(s)
    AA745613, AI436792, BC002675, BC071621, BG772866
    Consensus CDS
    CCDS35056.1
    UniProtKB/Swiss-Prot
    Q9BUE6
    Related
    ENSP00000365159.4, ENST00000375991.9
    Conserved Domains (1) summary
    TIGR00049
    Location:26129
    TIGR00049; Iron-sulfur cluster assembly accessory protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    86264546..86282538 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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