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NUBPL nucleotide binding protein like [ Homo sapiens (human) ]

Gene ID: 80224, updated on 25-Nov-2021

Summary

Official Symbol
NUBPLprovided by HGNC
Official Full Name
nucleotide binding protein likeprovided by HGNC
Primary source
HGNC:HGNC:20278
See related
Ensembl:ENSG00000151413 MIM:613621
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
IND1; huInd1; MC1DN21; C14orf127
Summary
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression
Ubiquitous expression in fat (RPKM 1.5), heart (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

See NUBPL in Genome Data Viewer
Location:
14q12
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (31561399..31861293)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (32030610..32330430)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370438 Neighboring gene G protein-coupled receptor 33 Neighboring gene NUBPL divergent transcript Neighboring gene RNA, U6 small nuclear 602, pseudogene Neighboring gene RNA, U6 small nuclear 455, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2273 Neighboring gene long intergenic non-protein coding RNA 2313

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

Associated conditions

Description Tests
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available
Mitochondrial complex 1 deficiency, nuclear type 21
MedGen: C4748792 OMIM: 618242 GeneReviews: Not available
Compare labs
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12660

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 4 iron, 4 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
iron-sulfur protein NUBPL
Names
IND1 homolog
iron-sulfur protein required for NADH dehydrogenase

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.

Genomic

  1. NG_028349.1 RefSeqGene

    Range
    5020..304840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001201573.2NP_001188502.1  iron-sulfur protein NUBPL isoform 2

    See identical proteins and their annotated locations for NP_001188502.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons from the 5' end and has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK301447, AK316445, AL355112, AL390798, BM978769
    UniProtKB/Swiss-Prot
    Q8TB37
    UniProtKB/TrEMBL
    B4DWB0
    Conserved Domains (1) summary
    pfam10609
    Location:1215
    ParA; NUBPL iron-transfer P-loop NTPase
  2. NM_001201574.2NP_001188503.1  iron-sulfur protein NUBPL isoform 3

    See identical proteins and their annotated locations for NP_001188503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons from the 5' end and has an alternate 5' exon, as compared to variant 1. The resulting isoform (3) has a much shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK093789, AL355112, AL390798, BM978769
    UniProtKB/TrEMBL
    B3KSK2
    Conserved Domains (1) summary
    cl38936
    Location:1128
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_025152.3NP_079428.2  iron-sulfur protein NUBPL isoform 1 precursor

    See identical proteins and their annotated locations for NP_079428.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK022722, BC024919, BM978769, BP274976, CT002019
    Consensus CDS
    CCDS41940.1
    UniProtKB/Swiss-Prot
    Q8TB37
    UniProtKB/TrEMBL
    X5D2R5
    Related
    ENSP00000281081.7, ENST00000281081.12
    Conserved Domains (2) summary
    TIGR01969
    Location:69311
    minD_arch; cell division ATPase MinD, archaeal
    pfam10609
    Location:65311
    ParA; NUBPL iron-transfer P-loop NTPase

RNA

  1. NR_120408.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC024919, BM978769, BQ649741, BX248028

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    31561399..31861293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021665.2XP_016877154.1  iron-sulfur protein NUBPL isoform X4

    Conserved Domains (1) summary
    cl21455
    Location:65171
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_017021666.1XP_016877155.1  iron-sulfur protein NUBPL isoform X6

    Related
    ENSP00000449918.1, ENST00000547839.5
  3. XM_011537183.2XP_011535485.1  iron-sulfur protein NUBPL isoform X5

    Conserved Domains (1) summary
    cl21455
    Location:65171
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. XM_017021664.1XP_016877153.1  iron-sulfur protein NUBPL isoform X2

  5. XM_017021667.1XP_016877156.1  iron-sulfur protein NUBPL isoform X7

    Conserved Domains (1) summary
    pfam10609
    Location:1170
    ParA; NUBPL iron-transfer P-loop NTPase
  6. XM_011537182.2XP_011535484.1  iron-sulfur protein NUBPL isoform X3

    Conserved Domains (1) summary
    pfam10609
    Location:1181
    ParA; NUBPL iron-transfer P-loop NTPase
  7. XM_011537181.2XP_011535483.1  iron-sulfur protein NUBPL isoform X1

    Conserved Domains (1) summary
    pfam10609
    Location:37206
    ParA; NUBPL iron-transfer P-loop NTPase
  8. XM_011537184.3XP_011535486.1  iron-sulfur protein NUBPL isoform X8

    See identical proteins and their annotated locations for XP_011535486.1

    UniProtKB/TrEMBL
    B3KSK2
    Conserved Domains (1) summary
    cl38936
    Location:1128
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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