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NFU1 NFU1 iron-sulfur cluster scaffold [ Homo sapiens (human) ]

Gene ID: 27247, updated on 7-Dec-2014
Official Symbol
NFU1provided by HGNC
Official Full Name
NFU1 iron-sulfur cluster scaffoldprovided by HGNC
Primary source
HGNC:HGNC:16287
Locus tag
CGI-33
See related
Ensembl:ENSG00000169599; HPRD:12163; MIM:608100; Vega:OTTHUMG00000152668
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Nfu; NifU; HIRIP; MMDS1; NIFUC; CGI-33; HIRIP5
Summary
This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
See NFU1 in Epigenomics, MapViewer
Location:
2p15-p13
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (69396113..69438071, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69623245..69664760, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene glutamine--fructose-6-phosphate transaminase 1 Neighboring gene AP2 associated kinase 1 Neighboring gene small nucleolar RNA, H/ACA box 36C Neighboring gene ribosomal protein L36a pseudogene 16

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Pol gag-pol HIV-1 Pol is identified to have a physical interaction with iron-sulfur cluster scaffold homolog (NFU1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with NFU1 iron-sulfur cluster scaffold homolog (NFU1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC142252, MGC142254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
iron-sulfur cluster assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Names
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
HIRA-interacting protein 5
iron-sulfur cluster scaffold protein
NifU-like C-terminal domain containing

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.

Genomic

  1. NG_031931.1 

    Range
    5001..46516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002755.2NP_001002755.1  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2

    See proteins identical to NP_001002755.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an upstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AI129426, AY335194, BC113692, BM846341
    Consensus CDS
    CCDS33217.1
    UniProtKB/Swiss-Prot
    Q9UMS0
    Conserved Domains (2) summary
    COG0694
    Location:164248
    COG0694; Thioredoxin-like proteins and domains [Posttranslational modification, protein turnover, chaperones]
    pfam08712
    Location:61148
    Nfu_N; Scaffold protein Nfu/NifU N terminal
  2. NM_001002756.2NP_001002756.1  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 3

    See proteins identical to NP_001002756.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI129426, BG385940, BM846341, BU507991, DB496651
    Consensus CDS
    CCDS42694.1
    UniProtKB/Swiss-Prot
    Q9UMS0
    Related
    ENSP00000377842, ENST00000394305
    Conserved Domains (1) summary
    COG0694
    Location:23107
    COG0694; Thioredoxin-like proteins and domains [Posttranslational modification, protein turnover, chaperones]
  3. NM_015700.3NP_056515.2  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 1

    See proteins identical to NP_056515.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AI129426, AY286307, BM846341, DB496651
    Consensus CDS
    CCDS46315.1
    UniProtKB/Swiss-Prot
    Q9UMS0
    Related
    ENSP00000306965, OTTHUMP00000202204, ENST00000303698, OTTHUMT00000327280
    Conserved Domains (2) summary
    COG0694
    Location:140224
    COG0694; Thioredoxin-like proteins and domains [Posttranslational modification, protein turnover, chaperones]
    pfam08712
    Location:37124
    Nfu_N; Scaffold protein Nfu/NifU N terminal

RNA

  1. NR_045631.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI129426, BM846341, BU178674, DB496651
  2. NR_045632.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI129426, AK308567, BM846341, DB496651

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    69396113..69438071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711988.1XP_006712051.1  

    See proteins identical to XP_006712051.1

    UniProtKB/Swiss-Prot
    Q9UMS0
    Conserved Domains (2) summary
    COG0694
    Location:140224
    COG0694; Thioredoxin-like proteins and domains [Posttranslational modification, protein turnover, chaperones]
    pfam08712
    Location:37124
    Nfu_N; Scaffold protein Nfu/NifU N terminal

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    69552650..69594074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    69359753..69401132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001002757.1: Suppressed sequence

    Description
    NM_001002757.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.