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

    Gene ID: 617, updated on 3-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218658743..218663443)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219145300..219150000)
    RS_2024_09 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 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. Conformations of Bcs1L undergoing ATP hydrolysis suggest a concerted translocation mechanism for folded iron-sulfur protein substrate. Zhan J, et al. Nat Commun, 2024 May 31. PMID 38821922, Free PMC Article
    2. Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. Falco M, et al. Am J Med Genet A, 2017 May. PMID 28322498
    3. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. Jackson CB, et al. Eur J Pediatr, 2016 Apr. PMID 26563427
    4. Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. Zhang J, et al. Gene, 2015 Jul 15. PMID 25895478
    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 (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Conformations of Bcs1L undergoing ATP hydrolysis suggest a concerted translocation mechanism for folded iron-sulfur protein substrate.
      Title: Conformations of Bcs1L undergoing ATP hydrolysis suggest a concerted translocation mechanism for folded iron-sulfur protein substrate.
    2. BCS1L mutations produce Fanconi syndrome with developmental disability.
      Title: BCS1L mutations produce Fanconi syndrome with developmental disability.
    3. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
      Title: Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
    4. Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
      Title: Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. * 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex III TAS
    Traceable Author Statement
    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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    NEW Try the new Transcript table

    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_2024_08

    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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