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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 1

Gene

UQCC1

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 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
Complete GO annotation...

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

HGNCiHGNC:15891. UQCC1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasmic, membrane-bounded vesicle Source: UniProtKB-SubCell
  • mitochondrial inner membrane Source: UniProtKB
Complete GO annotation...

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. 23 interactors.
IntActiQ9NVA1. 1 interactor.
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

InterProiIPR021150. Ubiq_cyt_c_chap/UPF0174.
IPR007129. Ubiqinol_cyt_c_chaperone_CPB3.
[Graphical view]
PANTHERiPTHR12184. PTHR12184. 1 hit.
PfamiPF03981. Ubiq_cyt_C_chap. 1 hit.
[Graphical view]

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 → Q.3 PublicationsCorresponds to variant rs4911494dbSNPEnsembl.1
Natural variantiVAR_02804885P → L.Corresponds to variant rs6088810dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NVA1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120536. 23 interactors.
IntActiQ9NVA1. 1 interactor.
STRINGi9606.ENSP00000363506.

PTM databases

iPTMnetiQ9NVA1.
PhosphoSitePlusiQ9NVA1.

Polymorphism and mutation databases

BioMutaiUQCC.
DMDMi306526265.

Proteomic databases

EPDiQ9NVA1.
MaxQBiQ9NVA1.
PaxDbiQ9NVA1.
PeptideAtlasiQ9NVA1.
PRIDEiQ9NVA1.

Protocols and materials databases

DNASUi55245.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi55245.
DisGeNETi55245.
GeneCardsiUQCC1.
HGNCiHGNC:15891. UQCC1.
HPAiHPA034875.
MIMi611797. gene.
neXtProtiNX_Q9NVA1.
OpenTargetsiENSG00000101019.
PharmGKBiPA162408653.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GeneWikiiUQCC.
GenomeRNAii55245.
PROiQ9NVA1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101019.
CleanExiHS_UQCC.
ExpressionAtlasiQ9NVA1. baseline and differential.
GenevisibleiQ9NVA1. HS.

Family and domain databases

InterProiIPR021150. Ubiq_cyt_c_chap/UPF0174.
IPR007129. Ubiqinol_cyt_c_chaperone_CPB3.
[Graphical view]
PANTHERiPTHR12184. PTHR12184. 1 hit.
PfamiPF03981. Ubiq_cyt_C_chap. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 historyi
Integrated into UniProtKB/Swiss-Prot: February 22, 2003
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 130 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 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

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.