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UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 [ Homo sapiens (human) ]

Gene ID: 55245, updated on 24-Nov-2020

Summary

Official Symbol
UQCC1provided by HGNC
Official Full Name
ubiquinol-cytochrome c reductase complex assembly factor 1provided by HGNC
Primary source
HGNC:HGNC:15891
See related
Ensembl:ENSG00000101019 MIM:611797
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
BFZB; CBP3; UQCC; C20orf44
Summary
This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in heart (RPKM 16.7), adrenal (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See UQCC1 in Genome Data Viewer
Location:
20q11.22
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (35302578..35412047, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33890369..33999945, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene FAM83C antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene family with sequence similarity 83 member C Neighboring gene Sharpr-MPRA regulatory region 10216 Neighboring gene GDF5 promoter region Neighboring gene GDF5 antisense RNA 1 Neighboring gene growth differentiation factor 5

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
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
GeneReviews: Not available
Common variants in the GDF5-UQCC region are associated with variation in human height.
GeneReviews: Not available
Genome-wide association analysis identifies 20 loci that influence adult height.
GeneReviews: Not available
Genome-wide association study identified UQCC locus for spine bone size in humans.
GeneReviews: Not available
Identification of ten loci associated with height highlights new biological pathways in human growth.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104353, MGC141902

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex III assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex III assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of mitochondrial translation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiquinol-cytochrome-c reductase complex assembly factor 1
Names
bFGF-repressed Zic-binding protein
basic FGF-repressed Zic-binding protein
cytochrome B protein synthesis 3 homolog
ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog

NCBI Reference Sequences (RefSeq)

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_021421.1 RefSeqGene

    Range
    5170..114565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184977.2NP_001171906.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform c

    See identical proteins and their annotated locations for NP_001171906.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons compared to variant 1. The resulting isoform (c) is shorter than isoform a.
    Source sequence(s)
    AK293516, AY050659, BC119013
    Consensus CDS
    CCDS54458.1
    UniProtKB/Swiss-Prot
    Q9NVA1
    Related
    ENSP00000363501.2, ENST00000374380.6
    Conserved Domains (1) summary
    pfam03981
    Location:68203
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  2. NM_018244.5NP_060714.3  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform a

    See identical proteins and their annotated locations for NP_060714.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL121752, AY050659, BC119013
    Consensus CDS
    CCDS13252.1
    UniProtKB/Swiss-Prot
    Q9NVA1
    UniProtKB/TrEMBL
    Q3KRB6
    Related
    ENSP00000363506.5, ENST00000374385.10
    Conserved Domains (1) summary
    pfam03981
    Location:136271
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  3. NM_199487.3NP_955781.2  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform b

    See identical proteins and their annotated locations for NP_955781.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) is shorter than isoform a.
    Source sequence(s)
    AK022650, AL121752, AL121753, AY050659
    Consensus CDS
    CCDS13253.2
    UniProtKB/Swiss-Prot
    Q9NVA1
    Related
    ENSP00000363505.2, ENST00000374384.6
    Conserved Domains (1) summary
    pfam03981
    Location:136245
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    35302578..35412047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528877.1XP_011527179.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X1

    Conserved Domains (1) summary
    pfam03981
    Location:150285
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  2. XM_011528879.1XP_011527181.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X3

    See identical proteins and their annotated locations for XP_011527181.1

    Related
    ENSP00000380688.4, ENST00000397556.7
    Conserved Domains (1) summary
    pfam03981
    Location:90227
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  3. XM_011528880.2XP_011527182.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X3

    See identical proteins and their annotated locations for XP_011527182.1

    Conserved Domains (1) summary
    pfam03981
    Location:90227
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  4. XM_011528878.2XP_011527180.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X2

    Related
    ENSP00000399713.1, ENST00000424405.5
    Conserved Domains (1) summary
    pfam03981
    Location:104239
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  5. XM_011528881.3XP_011527183.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X4

    See identical proteins and their annotated locations for XP_011527183.1

    UniProtKB/TrEMBL
    B7Z314
    Conserved Domains (1) summary
    pfam03981
    Location:37172
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  6. XM_011528882.2XP_011527184.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X5

    See identical proteins and their annotated locations for XP_011527184.1

    UniProtKB/Swiss-Prot
    Q9NVA1
    Conserved Domains (1) summary
    pfam03981
    Location:3137
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  7. XM_011528884.2XP_011527186.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X5

    See identical proteins and their annotated locations for XP_011527186.1

    UniProtKB/Swiss-Prot
    Q9NVA1
    Conserved Domains (1) summary
    pfam03981
    Location:3137
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone
  8. XM_011528883.2XP_011527185.1  ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform X5

    See identical proteins and their annotated locations for XP_011527185.1

    UniProtKB/Swiss-Prot
    Q9NVA1
    Conserved Domains (1) summary
    pfam03981
    Location:3137
    Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199513.1: Suppressed sequence

    Description
    NM_199513.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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