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BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ Homo sapiens (human) ]

Gene ID: 617, updated on 7-Apr-2024

Summary

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Official Symbol
BCS1Lprovided by HGNC
Official Full Name
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperoneprovided by HGNC
Primary source
HGNC:HGNC:1020
See related
Ensembl:ENSG00000074582 MIM:603647; AllianceGenome:HGNC:1020
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
BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719
Summary
This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in skin (RPKM 9.0), ovary (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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See BCS1L in Genome Data Viewer
Location:
2q35
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218658743..218663443)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219145300..219150000)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219524406..219528166)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phospholipase C delta 4 Neighboring gene uncharacterized LOC124906133 Neighboring gene tRNA-Gln (anticodon CTG) 16-1 Neighboring gene zinc finger protein 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17128 Neighboring gene ring finger protein 25 Neighboring gene serine/threonine kinase 36 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219563769-219564269

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Hikmat O, et al. Ann Clin Transl Neurol, 2021 Nov. PMID 34662929, Free PMC Article
  2. BCS1L mutations produce Fanconi syndrome with developmental disability. Kanako KI, et al. J Hum Genet, 2022 Mar. PMID 34650211
  3. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Oláhová M, et al. Hum Mol Genet, 2019 Nov 15. PMID 31435670, Free PMC Article
  4. Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. Baker RA, et al. Am J Med Genet A, 2019 Mar. PMID 30582773
  5. A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. Akduman H, et al. Genet Couns, 2016. PMID 30226971

See all (69) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BCS1L mutations produce Fanconi syndrome with developmental disability.
    Title: BCS1L mutations produce Fanconi syndrome with developmental disability.
  2. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
    Title: Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
  3. Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
    Title: Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
  4. Data support the pathogenicity of the novel BCS1L variants identified in our patients.
    Title: Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
  5. We propose a change in nomenclature that unifies the intermediate phenotype under "BCS1L Mitopathies". Patterns in genotype-phenotype correlations within these BCS1L Mitopathies are evident in the context of the tertiary and quaternary structure of BCS1L.
    Title: Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
  6. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.
    Title: A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
  7. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L
    Title: Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
  8. * Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debre-Fanconi-type tubulopathy. * The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon.
    Title: A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
  9. Extensive statistical and cluster analyses revealed a protein profile characteristic for the BCS1L mutant fibroblasts that included alterations in energy metabolism, cell signaling and gene expression regulation, cytoskeleton formation and maintenance.
    Title: Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.
  10. Exome sequencing revealed novel BCS1L mutations in two siblings with Bjornstad syndrome characterized by hearing loss and hypotrichosis.
    Title: Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
GRACILE syndrome
MedGen: C1864002 OMIM: 603358 GeneReviews: Not available
Compare labs
Mitochondrial complex III deficiency nuclear type 1
MedGen: C3541471 OMIM: 124000 GeneReviews: Not available
Compare labs
Pili torti-deafness syndrome
MedGen: C0266006 OMIM: 262000 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial cytochrome c oxidase assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex III assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial respiratory chain complex III assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein insertion into mitochondrial inner membrane from matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex III TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial chaperone BCS1
Names
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BCS1-like protein
mitochondrial complex III assembly

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_008018.1 RefSeqGene

    Range
    5001..8788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_539

mRNA and Protein(s)

  1. NM_001079866.2 → NP_001073335.1  mitochondrial chaperone BCS1 isoform a

    See identical proteins and their annotated locations for NP_001073335.1

    Status: REVIEWED

    Source sequence(s)
    AF038195, DA540458
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000352219.3, ENST00000359273.8
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  2. NM_001257342.2 → NP_001244271.1  mitochondrial chaperone BCS1 isoform a

    See identical proteins and their annotated locations for NP_001244271.1

    Status: REVIEWED

    Source sequence(s)
    AF038195, AK289363, DA613959
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000375958.2, ENST00000392110.6
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  3. NM_001257343.2 → NP_001244272.1  mitochondrial chaperone BCS1 isoform a

    See identical proteins and their annotated locations for NP_001244272.1

    Status: REVIEWED

    Source sequence(s)
    AF038195, BX571752, DA613959
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000375957.1, ENST00000392109.5
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  4. NM_001257344.2 → NP_001244273.1  mitochondrial chaperone BCS1 isoform a

    See identical proteins and their annotated locations for NP_001244273.1

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000406494.1, ENST00000412366.5
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  5. NM_001318836.2 → NP_001305765.1  mitochondrial chaperone BCS1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC009974, BP215082, BX571752, DA613959
    UniProtKB/Swiss-Prot
    Q9Y276
    Conserved Domains (2) summary
    cd19510
    Location:81 → 233
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:2 → 71
    BCS1_N; BCS1 N terminal

  6. NM_001320717.2 → NP_001307646.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    BC007500, CB159298, DA613959
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000404999.1, ENST00000439945.5
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  7. NM_001371443.1 → NP_001358372.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  8. NM_001371444.1 → NP_001358373.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  9. NM_001371446.1 → NP_001358375.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  10. NM_001371447.1 → NP_001358376.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  11. NM_001371448.1 → NP_001358377.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  12. NM_001371449.1 → NP_001358378.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  13. NM_001371450.1 → NP_001358379.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000413908.1, ENST00000431802.5
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  14. NM_001371451.1 → NP_001358380.1  mitochondrial chaperone BCS1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Conserved Domains (2) summary
    cd19510
    Location:81 → 233
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:2 → 71
    BCS1_N; BCS1 N terminal

  15. NM_001371452.1 → NP_001358381.1  mitochondrial chaperone BCS1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Related
    ENST00000477422.5
    Conserved Domains (2) summary
    cd19510
    Location:34 → 186
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:1 → 24
    BCS1_N; BCS1 N terminal

  16. NM_001371453.1 → NP_001358382.1  mitochondrial chaperone BCS1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Conserved Domains (2) summary
    cd19510
    Location:34 → 186
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:1 → 24
    BCS1_N; BCS1 N terminal

  17. NM_001371454.1 → NP_001358383.1  mitochondrial chaperone BCS1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Conserved Domains (2) summary
    cd19510
    Location:34 → 186
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:1 → 24
    BCS1_N; BCS1 N terminal

  18. NM_001371455.1 → NP_001358384.1  mitochondrial chaperone BCS1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Conserved Domains (2) summary
    cd19510
    Location:34 → 186
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:1 → 24
    BCS1_N; BCS1 N terminal

  19. NM_001371456.1 → NP_001358385.1  mitochondrial chaperone BCS1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Conserved Domains (2) summary
    cd19510
    Location:34 → 186
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:1 → 24
    BCS1_N; BCS1 N terminal

  20. NM_001374085.1 → NP_001361014.1  mitochondrial chaperone BCS1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

  21. NM_001374086.1 → NP_001361015.1  mitochondrial chaperone BCS1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Conserved Domains (2) summary
    cd19510
    Location:34 → 186
    RecA-like_BCS1; Mitochondrial chaperone BCS1
    cl07381
    Location:1 → 24
    BCS1_N; BCS1 N terminal

  22. NM_004328.5 → NP_004319.1  mitochondrial chaperone BCS1 isoform a

    See identical proteins and their annotated locations for NP_004319.1

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810
    Consensus CDS
    CCDS2419.1
    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467, A8JZZ8, Q53EX1
    Related
    ENSP00000375959.2, ENST00000392111.7
    Conserved Domains (2) summary
    smart01024
    Location:24 → 191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
    cd19510
    Location:201 → 353
    RecA-like_BCS1; Mitochondrial chaperone BCS1

RNA

  1. NR_163955.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009974, AC079810

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    218658743..218663443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445389.1 → XP_047301345.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  2. XM_047445388.1 → XP_047301344.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  3. XM_047445385.1 → XP_047301341.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  4. XM_047445387.1 → XP_047301343.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  5. XM_047445384.1 → XP_047301340.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  6. XM_047445390.1 → XP_047301346.1  mitochondrial chaperone BCS1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    219145300..219150000
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343290.1 → XP_054199265.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  2. XM_054343289.1 → XP_054199264.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  3. XM_054343288.1 → XP_054199263.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  4. XM_054343287.1 → XP_054199262.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    B3KTW9, Q7Z2V7, Q9Y276
    UniProtKB/TrEMBL
    A0A024R445, A0A024R467

  5. XM_054343291.1 → XP_054199266.1  mitochondrial chaperone BCS1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y276.1 GenPept UniProtKB/Swiss-Prot:Q9Y276

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