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Protein

Iron-sulfur protein NUBPL

Gene

NUBPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.1 Publication

Cofactori

[4Fe-4S] clusterNote: Binds 1 [4Fe-4S] cluster.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi75 – 828ATPSequence analysis

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
  • mitochondrion morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Iron-sulfur protein NUBPL
Alternative name(s):
IND1 homolog
Nucleotide-binding protein-like
huInd1
Gene namesi
Name:NUBPL
Synonyms:C14orf127
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20278. NUBPL.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
See also OMIM:252010
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561G → R Rare variant found in a patient with MT-C1D; found in association with a nucleotide transition causing exon skipping; does not affect protein stability, processing and import in the mitochondrion; can restore complex I activity when overexpressed in patient fibroblasts. 3 Publications
VAR_064570
Natural varianti105 – 1051D → Y in MT-C1D. 1 Publication
VAR_069767
Natural varianti193 – 1931L → F in MT-C1D. 1 Publication
VAR_069768

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi244 – 2441C → A: Defect in complex I assembly; when associated with A-247. 1 Publication
Mutagenesisi247 – 2471C → A: Defect in complex I assembly; when associated with A-244. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiNUBPL.
MIMi252010. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA134907818.

Polymorphism and mutation databases

BioMutaiNUBPL.
DMDMi116242683.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3838MitochondrionSequence analysisAdd
BLAST
Chaini39 – 319281Iron-sulfur protein NUBPLPRO_0000184950Add
BLAST

Proteomic databases

EPDiQ8TB37.
PaxDbiQ8TB37.
PeptideAtlasiQ8TB37.
PRIDEiQ8TB37.

PTM databases

iPTMnetiQ8TB37.
PhosphoSiteiQ8TB37.

Expressioni

Tissue specificityi

Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level).1 Publication

Gene expression databases

BgeeiQ8TB37.
CleanExiHS_NUBPL.
ExpressionAtlasiQ8TB37. baseline and differential.
GenevisibleiQ8TB37. HS.

Organism-specific databases

HPAiHPA029203.

Interactioni

Protein-protein interaction databases

BioGridi123190. 3 interactions.
STRINGi9606.ENSP00000281081.

Structurei

3D structure databases

ProteinModelPortaliQ8TB37.
SMRiQ8TB37. Positions 66-314.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3022. Eukaryota.
COG0489. LUCA.
GeneTreeiENSGT00390000009735.
HOGENOMiHOG000079916.
HOVERGENiHBG051027.
InParanoidiQ8TB37.
KOiK03593.
OMAiTMPFVWL.
PhylomeDBiQ8TB37.
TreeFamiTF323196.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_02040. Mrp_NBP35.
InterProiIPR019591. Mrp/NBP35_ATP-bd.
IPR000808. Mrp_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR23264. PTHR23264. 1 hit.
PfamiPF10609. ParA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS01215. MRP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TB37-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGIWQRLLLF GGVSLRAGGG ATAPLGGSRA MVCGRQLSGA GSETLKQRRT
60 70 80 90 100
QIMSRGLPKQ KPIEGVKQVI VVASGKGGVG KSTTAVNLAL ALAANDSSKA
110 120 130 140 150
IGLLDVDVYG PSVPKMMNLK GNPELSQSNL MRPLLNYGIA CMSMGFLVEE
160 170 180 190 200
SEPVVWRGLM VMSAIEKLLR QVDWGQLDYL VVDMPPGTGD VQLSVSQNIP
210 220 230 240 250
ITGAVIVSTP QDIALMDAHK GAEMFRRVHV PVLGLVQNMS VFQCPKCKHK
260 270 280 290 300
THIFGADGAR KLAQTLGLEV LGDIPLHLNI REASDTGQPI VFSQPESDEA
310
KAYLRIAVEV VRRLPSPSE
Length:319
Mass (Da):34,083
Last modified:October 17, 2006 - v3
Checksum:i7A497482A4D449A4
GO
Isoform 2 (identifier: Q8TB37-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-173: D → L
     174-319: Missing.

Note: May be due to exon skipping.
Show »
Length:173
Mass (Da):18,209
Checksum:iAE55B86E97B19D50
GO

Sequence cautioni

The sequence AAH24919.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14203.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD62349.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561G → R Rare variant found in a patient with MT-C1D; found in association with a nucleotide transition causing exon skipping; does not affect protein stability, processing and import in the mitochondrion; can restore complex I activity when overexpressed in patient fibroblasts. 3 Publications
VAR_064570
Natural varianti105 – 1051D → Y in MT-C1D. 1 Publication
VAR_069767
Natural varianti193 – 1931L → F in MT-C1D. 1 Publication
VAR_069768
Natural varianti198 – 1981N → T.1 Publication
Corresponds to variant rs17855507 [ dbSNP | Ensembl ].
VAR_027895

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei173 – 1731D → L in isoform 2. 1 PublicationVSP_020985
Alternative sequencei174 – 319146Missing in isoform 2. 1 PublicationVSP_008797Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX248028 mRNA. Translation: CAD62349.1. Different initiation.
AK022722 mRNA. Translation: BAB14203.1. Different initiation.
AK295326 mRNA. Translation: BAG58303.1.
AK316445 mRNA. Translation: BAH14816.1.
CH471078 Genomic DNA. Translation: EAW65942.1.
BC024919 mRNA. Translation: AAH24919.1. Different initiation.
CCDSiCCDS41940.1. [Q8TB37-1]
RefSeqiNP_001188502.1. NM_001201573.1.
NP_079428.2. NM_025152.2. [Q8TB37-1]
UniGeneiHs.288981.

Genome annotation databases

EnsembliENST00000281081; ENSP00000281081; ENSG00000151413. [Q8TB37-1]
ENST00000547839; ENSP00000449918; ENSG00000151413. [Q8TB37-2]
GeneIDi80224.
KEGGihsa:80224.
UCSCiuc059apb.1. human. [Q8TB37-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX248028 mRNA. Translation: CAD62349.1. Different initiation.
AK022722 mRNA. Translation: BAB14203.1. Different initiation.
AK295326 mRNA. Translation: BAG58303.1.
AK316445 mRNA. Translation: BAH14816.1.
CH471078 Genomic DNA. Translation: EAW65942.1.
BC024919 mRNA. Translation: AAH24919.1. Different initiation.
CCDSiCCDS41940.1. [Q8TB37-1]
RefSeqiNP_001188502.1. NM_001201573.1.
NP_079428.2. NM_025152.2. [Q8TB37-1]
UniGeneiHs.288981.

3D structure databases

ProteinModelPortaliQ8TB37.
SMRiQ8TB37. Positions 66-314.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123190. 3 interactions.
STRINGi9606.ENSP00000281081.

PTM databases

iPTMnetiQ8TB37.
PhosphoSiteiQ8TB37.

Polymorphism and mutation databases

BioMutaiNUBPL.
DMDMi116242683.

Proteomic databases

EPDiQ8TB37.
PaxDbiQ8TB37.
PeptideAtlasiQ8TB37.
PRIDEiQ8TB37.

Protocols and materials databases

DNASUi80224.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281081; ENSP00000281081; ENSG00000151413. [Q8TB37-1]
ENST00000547839; ENSP00000449918; ENSG00000151413. [Q8TB37-2]
GeneIDi80224.
KEGGihsa:80224.
UCSCiuc059apb.1. human. [Q8TB37-1]

Organism-specific databases

CTDi80224.
GeneCardsiNUBPL.
H-InvDBHIX0011583.
HGNCiHGNC:20278. NUBPL.
HPAiHPA029203.
MalaCardsiNUBPL.
MIMi252010. phenotype.
613621. gene.
neXtProtiNX_Q8TB37.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA134907818.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3022. Eukaryota.
COG0489. LUCA.
GeneTreeiENSGT00390000009735.
HOGENOMiHOG000079916.
HOVERGENiHBG051027.
InParanoidiQ8TB37.
KOiK03593.
OMAiTMPFVWL.
PhylomeDBiQ8TB37.
TreeFamiTF323196.

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiNUBPL. human.
GenomeRNAii80224.
PROiQ8TB37.
SOURCEiSearch...

Gene expression databases

BgeeiQ8TB37.
CleanExiHS_NUBPL.
ExpressionAtlasiQ8TB37. baseline and differential.
GenevisibleiQ8TB37. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_02040. Mrp_NBP35.
InterProiIPR019591. Mrp/NBP35_ATP-bd.
IPR000808. Mrp_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR23264. PTHR23264. 1 hit.
PfamiPF10609. ParA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS01215. MRP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Neuroblastoma.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Teratocarcinoma and Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-319 (ISOFORM 1), VARIANT THR-198.
    Tissue: Prostatic adenocarcinoma.
  5. "Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I."
    Sheftel A.D., Stehling O., Pierik A.J., Netz D.J., Kerscher S., Elsasser H.P., Wittig I., Balk J., Brandt U., Lill R.
    Mol. Cell. Biol. 29:6059-6073(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IRON-SULFUR CLUSTER-BINDING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF CYS-244 AND CYS-247.
  6. Cited for: INVOLVEMENT IN MT-C1D, VARIANT ARG-56.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Next generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation."
    Tucker E.J., Mimaki M., Compton A.G., McKenzie M., Ryan M.T., Thorburn D.R.
    Hum. Mutat. 33:411-418(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT ARG-56.
  9. Cited for: VARIANTS MT-C1D TYR-105 AND PHE-193, VARIANT ARG-56.

Entry informationi

Entry nameiNUBPL_HUMAN
AccessioniPrimary (citable) accession number: Q8TB37
Secondary accession number(s): B4DHZ1, Q86TZ4, Q9H9M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 17, 2006
Last modified: June 8, 2016
This is version 122 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.