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

    Gene ID: 10101, updated on 3-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1782960..1789186)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1798796..1805026)
    RS_2024_09 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 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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    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_2024_08

    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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