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NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic [ Homo sapiens (human) ]

Gene ID: 10101, updated on 5-Mar-2024

Summary

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Official Symbol
NUBP2provided by HGNC
Official Full Name
NUBP iron-sulfur cluster assembly factor 2, cytosolicprovided by HGNC
Primary source
HGNC:HGNC:8042
See related
Ensembl:ENSG00000095906 MIM:610779; AllianceGenome:HGNC:8042
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
CFD1; CIAO6; NBP 2; NUBP1
Summary
This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
Expression
Ubiquitous expression in fat (RPKM 8.3), prostate (RPKM 7.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See NUBP2 in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1782960..1789186)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1798796..1805026)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1832961..1839187)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1824057-1824845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1825681-1826181 Neighboring gene mitochondrial ribosomal protein S34 Neighboring gene essential meiotic structure-specific endonuclease subunit 2 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7008 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1833677-1833903 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1836968-1837136 Neighboring gene insulin like growth factor binding protein acid labile subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1859423-1859585 Neighboring gene hydroxyacylglutathione hydrolase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7009

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Comparison of intracellular localization of Nubp1 and Nubp2 using GFP fusion proteins. Okuno T, et al. Mol Biol Rep, 2010 Mar. PMID 19263241
  2. Human Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasis. Stehling O, et al. Mol Cell Biol, 2008 Sep. PMID 18573874, Free PMC Article
  3. A novel eukaryotic factor for cytosolic Fe-S cluster assembly. Roy A, et al. EMBO J, 2003 Sep 15. PMID 12970194, Free PMC Article
  4. A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3. Kaplan RC, et al. Hum Mol Genet, 2011 Mar 15. PMID 21216879, Free PMC Article
  5. Two novel mouse genes--Nubp2, mapped to the t-complex on chromosome 17, and Nubp1, mapped to chromosome 16--establish a new gene family of nucleotide-binding proteins in eukaryotes. Nakashima H, et al. Genomics, 1999 Sep 1. PMID 10486206

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42469

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent FeS chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables iron-sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in centriole IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in spindle pole centrosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cytosolic Fe-S cluster assembly factor NUBP2
Names
homolog of yeast cytosolic Fe-S cluster deficient 1
nucleotide binding protein 2 (MinD homolog, E. coli)
nucleotide-binding protein 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_001284501.2 → NP_001271430.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform 2

    See identical proteins and their annotated locations for NP_001271430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminal compared to isoform 1.
    Source sequence(s)
    AC012180, AK300696, BC002768, BF439443, BU189242, BX446436
    Consensus CDS
    CCDS66898.1
    UniProtKB/TrEMBL
    H3BQR2
    Related
    ENSP00000455896.1, ENST00000565987.5
    Conserved Domains (1) summary
    cl21455
    Location:1 → 202
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_001284502.2 → NP_001271431.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains multiple differences in the coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC012180, AK300696, BF439443, BI196883, BU189242
    UniProtKB/TrEMBL
    B7Z6P0
    Conserved Domains (2) summary
    COG0489
    Location:12 → 58
    Mrp; Chromosome partitioning ATPase, Mrp family, contains Fe-S cluster [Cell cycle control, cell division, chromosome partitioning]
    cl21455
    Location:14 → 58
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. NM_012225.4 → NP_036357.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform 1

    See identical proteins and their annotated locations for NP_036357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK300696, BC002768, BF439443, BU189242
    Consensus CDS
    CCDS10445.1
    UniProtKB/Swiss-Prot
    D3DU80, Q9NWB2, Q9Y5Y2
    UniProtKB/TrEMBL
    B2RDN3
    Related
    ENSP00000262302.9, ENST00000262302.14
    Conserved Domains (1) summary
    pfam10609
    Location:13 → 262
    ParA; NUBPL iron-transfer P-loop NTPase

RNA

  1. NR_104318.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK300696, BF439443, BU189242
    Related
    ENST00000568834.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1782960..1789186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522338.3 → XP_011520640.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform X1

    Conserved Domains (2) summary
    COG0489
    Location:57 → 175
    Mrp; Chromosome partitioning ATPase, Mrp family, contains Fe-S cluster [Cell cycle control, cell division, chromosome partitioning]
    cl21455
    Location:55 → 206
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. XM_017022832.3 → XP_016878321.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform X3

  3. XM_005255027.4 → XP_005255084.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform X2

    See identical proteins and their annotated locations for XP_005255084.1

    UniProtKB/TrEMBL
    H3BQR2
    Conserved Domains (1) summary
    cl21455
    Location:1 → 202
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1798796..1805026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379353.1 → XP_054235328.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform X1

  2. XM_054379355.1 → XP_054235330.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform X3

  3. XM_054379354.1 → XP_054235329.1  cytosolic Fe-S cluster assembly factor NUBP2 isoform X2

    UniProtKB/TrEMBL
    H3BQR2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5Y2.1 GenPept UniProtKB/Swiss-Prot:Q9Y5Y2

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