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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 1

Gene

UQCC1

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

Functioni

Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability.1 Publication

GO - Biological processi

  • mitochondrial respiratory chain complex III assembly Source: UniProtKB
  • positive regulation of mitochondrial translation Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinol-cytochrome-c reductase complex assembly factor 1
Alternative name(s):
Basic FGF-repressed Zic-binding protein
Short name:
bFGF-repressed Zic-binding protein
Short name:
bFZb
Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog
Gene namesi
Name:UQCC1
Synonyms:BZFB, C20orf44, UQCC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101019.21
HGNCiHGNC:15891 UQCC1
MIMi611797 gene
neXtProtiNX_Q9NVA1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55245
OpenTargetsiENSG00000101019
PharmGKBiPA162408653

Polymorphism and mutation databases

BioMutaiUQCC
DMDMi306526265

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002065601 – 299Ubiquinol-cytochrome-c reductase complex assembly factor 1Add BLAST299

Proteomic databases

EPDiQ9NVA1
MaxQBiQ9NVA1
PaxDbiQ9NVA1
PeptideAtlasiQ9NVA1
PRIDEiQ9NVA1

PTM databases

iPTMnetiQ9NVA1
PhosphoSitePlusiQ9NVA1

Expressioni

Gene expression databases

BgeeiENSG00000101019
CleanExiHS_UQCC
ExpressionAtlasiQ9NVA1 baseline and differential
GenevisibleiQ9NVA1 HS

Organism-specific databases

HPAiHPA034875

Interactioni

Subunit structurei

Interacts with UQCC2.1 Publication

Protein-protein interaction databases

BioGridi120536, 31 interactors
IntActiQ9NVA1, 4 interactors
STRINGi9606.ENSP00000363506

Structurei

3D structure databases

ProteinModelPortaliQ9NVA1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CBP3 family.Curated

Phylogenomic databases

eggNOGiKOG2873 Eukaryota
ENOG4111QVY LUCA
GeneTreeiENSGT00390000018118
HOGENOMiHOG000231832
HOVERGENiHBG036492
InParanoidiQ9NVA1
KOiK17662
OMAiCEDPRHL
OrthoDBiEOG091G0H92
PhylomeDBiQ9NVA1
TreeFamiTF313220

Family and domain databases

InterProiView protein in InterPro
IPR021150 Ubiq_cyt_c_chap/UPF0174
IPR007129 Ubiqinol_cyt_c_chaperone_CPB3
PANTHERiPTHR12184 PTHR12184, 1 hit
PfamiView protein in Pfam
PF03981 Ubiq_cyt_C_chap, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NVA1-1) [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
MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS
60 70 80 90 100
RACGGSEQIP GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM
110 120 130 140 150
GFTGPLKYSK WKIKIAALRM YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT
160 170 180 190 200
LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW EDVQQRGRVM GVNPYILKKN
210 220 230 240 250
MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE DPRHLELLVE
260 270 280 290
YVRKQIQYLD SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL
Length:299
Mass (Da):34,600
Last modified:October 5, 2010 - v3
Checksum:iEF136391C85E94A2
GO
Isoform 2 (identifier: Q9NVA1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     192-217: Missing.

Show »
Length:273
Mass (Da):31,546
Checksum:i26895996F6898801
GO
Isoform 3 (identifier: Q9NVA1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-112: Missing.
     113-136: IKIAALRMYTSCVEKTDFEEFFLR → MQPIDTCVSYPRTGSVSHFPG

Show »
Length:184
Mass (Da):21,471
Checksum:iEB7CD80B8B11087F
GO
Isoform 4 (identifier: Q9NVA1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-135: Missing.

Note: May be due to a competing donor splice site.
Show »
Length:272
Mass (Da):31,333
Checksum:iF693FA9C4F4EA1E2
GO
Isoform 5 (identifier: Q9NVA1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     44-111: Missing.

Note: No experimental confirmation available.
Show »
Length:231
Mass (Da):26,963
Checksum:i524263CB22650C93
GO

Sequence cautioni

The sequence AAL13119 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14156 differs from that shown. Reason: Erroneous termination at position 240. Translated as Glu.Curated
The sequence BAB14217 differs from that shown. Erroneous CDS prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti134F → L in BAB14217 (PubMed:14702039).Curated1
Sequence conflicti134F → L in BC008871 (PubMed:15489334).Curated1
Sequence conflicti135 – 136LR → MG in BAB14217 (PubMed:14702039).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03661244W → S in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_02804751R → Q3 PublicationsCorresponds to variant dbSNP:rs4911494Ensembl.1
Natural variantiVAR_02804885P → L. Corresponds to variant dbSNP:rs6088810Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0008551 – 112Missing in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_04340644 – 111Missing in isoform 5. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_016027109 – 135Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_000856113 – 136IKIAA…EFFLR → MQPIDTCVSYPRTGSVSHFP G in isoform 3. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_000857192 – 217Missing in isoform 2. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY050659 mRNA Translation: AAL13118.1
AY050660 mRNA Translation: AAL13119.1 Different initiation.
AK001712 mRNA Translation: BAA91854.1
AK022650 mRNA Translation: BAB14156.1 Sequence problems.
AK022742 mRNA Translation: BAB14217.1 Sequence problems.
AK293516 mRNA Translation: BAH11526.1
AL121752 Genomic DNA No translation available.
AL121753 Genomic DNA No translation available.
FO393401 Genomic DNA No translation available.
BC008871 mRNA No translation available.
BC119013 mRNA Translation: AAI19014.1
BC122862 mRNA Translation: AAI22863.1
CCDSiCCDS13252.1 [Q9NVA1-1]
CCDS13253.2 [Q9NVA1-2]
CCDS54458.1 [Q9NVA1-5]
RefSeqiNP_001171906.1, NM_001184977.1 [Q9NVA1-5]
NP_060714.3, NM_018244.4 [Q9NVA1-1]
NP_955781.2, NM_199487.2 [Q9NVA1-2]
XP_011527184.1, XM_011528882.1
XP_011527185.1, XM_011528883.1
XP_011527186.1, XM_011528884.1
UniGeneiHs.726290

Genome annotation databases

EnsembliENST00000349714; ENSP00000335364; ENSG00000101019 [Q9NVA1-4]
ENST00000374380; ENSP00000363501; ENSG00000101019 [Q9NVA1-5]
ENST00000374384; ENSP00000363505; ENSG00000101019 [Q9NVA1-2]
ENST00000374385; ENSP00000363506; ENSG00000101019 [Q9NVA1-1]
GeneIDi55245
KEGGihsa:55245
UCSCiuc002xcd.4 human [Q9NVA1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiUQCC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NVA1
Secondary accession number(s): B1AKV5
, Q0VF37, Q5T348, Q5T351, Q5T353, Q86YU3, Q86YU4, Q96H66, Q9H438, Q9H452, Q9H9K8, Q9H9R5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 22, 2003
Last sequence update: October 5, 2010
Last modified: May 23, 2018
This is version 139 of the entry and version 3 of the sequence. See 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 20
    Human chromosome 20: 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

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