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CIAO3 cytosolic iron-sulfur assembly component 3 [ Homo sapiens (human) ]

Gene ID: 64428, updated on 12-Oct-2019

Summary

Official Symbol
CIAO3provided by HGNC
Official Full Name
cytosolic iron-sulfur assembly component 3provided by HGNC
Primary source
HGNC:HGNC:14179
See related
Ensembl:ENSG00000103245 MIM:611118
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
PRN; HPRN; IOP1; NAR1; LET1L; NARFL
Expression
Ubiquitous expression in kidney (RPKM 7.4), prostate (RPKM 7.1) and 25 other tissues See more
Orthologs

Genomic context

See CIAO3 in Genome Data Viewer
Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (729765..740997, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (779753..790997, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene adenine nucleotide translocase lysine methyltransferase Neighboring gene coiled-coil domain containing 78 Neighboring gene hydroxyacylglutathione hydrolase like Neighboring gene MSLN promoter region Neighboring gene mesothelin Neighboring gene microRNA 662 Neighboring gene mesothelin like

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?

Phenotypes

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
    Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21988

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron-sulfur cluster assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxygen homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
CIA complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CIA complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytosolic iron-sulfur assembly component 3
Names
LET1 like/JFP15
cytosolic Fe-S cluster assembly factor NARFL
iron-only hydrogenase-like protein 1
nuclear prelamin A recognition factor like
protein related to Narf

NCBI Reference Sequences (RefSeq)

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_001304799.2NP_001291728.1  cytosolic iron-sulfur assembly component 3 isoform 2

    See identical proteins and their annotated locations for NP_001291728.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AY129231, BU741568, DA153375, DB126434
    Consensus CDS
    CCDS76798.1
    UniProtKB/Swiss-Prot
    Q9H6Q4
    Related
    ENSP00000444008.1, ENST00000540986.5
    Conserved Domains (2) summary
    smart00902
    Location:316364
    Fe_hyd_SSU; Iron hydrogenase small subunit
    pfam02906
    Location:8303
    Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain
  2. NM_022493.3NP_071938.1  cytosolic iron-sulfur assembly component 3 isoform 1

    See identical proteins and their annotated locations for NP_071938.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AY129231, BU741568, DA153375
    Consensus CDS
    CCDS10425.1
    UniProtKB/Swiss-Prot
    Q9H6Q4
    Related
    ENSP00000251588.2, ENST00000251588.7
    Conserved Domains (2) summary
    smart00902
    Location:418466
    Fe_hyd_SSU; Iron hydrogenase small subunit
    pfam02906
    Location:112403
    Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    729765..740997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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