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    CYB561A3 cytochrome b561 family member A3 [ Homo sapiens (human) ]

    Gene ID: 220002, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CYB561A3provided by HGNC
    Official Full Name
    cytochrome b561 family member A3provided by HGNC
    Primary source
    HGNC:HGNC:23014
    See related
    Ensembl:ENSG00000162144 MIM:618757; AllianceGenome:HGNC:23014
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCYTB; CYBASC3
    Summary
    Predicted to enable transmembrane ascorbate ferrireductase activity. Predicted to be involved in intracellular iron ion homeostasis. Located in nucleolus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in adrenal (RPKM 44.3), lymph node (RPKM 18.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYB561A3 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61348745..61362283, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61337352..61350891, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61116217..61129755, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:61033788-61034987 Neighboring gene von Willebrand factor C and EGF domains Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61048939-61049860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61061839-61062541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3389 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:61067594-61068793 Neighboring gene damage specific DNA binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100139-61100661 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100662-61101184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61112523-61113449 Neighboring gene triokinase and FMN cyclase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61129243-61129964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4797 Neighboring gene transmembrane protein 138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61159824-61160785 Neighboring gene transmembrane protein 216

    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. CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival. Wang Z, et al. Blood, 2021 Dec 2. PMID 34232987, Free PMC Article
    2. Cytochromes b561: ascorbate-mediated trans-membrane electron transport. Asard H, et al. Antioxid Redox Signal, 2013 Sep 20. PMID 23249217, Free PMC Article
    3. Integral and associated lysosomal membrane proteins. Schröder B, et al. Traffic, 2007 Dec. PMID 17897319
    4. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival.
      Title: CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival.
    Submit: New GeneRIF Correction

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39724, MGC20446

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane ascorbate ferrireductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in late endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    lysosomal membrane ascorbate-dependent ferrireductase CYB561A3
    Names
    cytochrome b ascorbate-dependent protein 3
    cytochrome b, ascorbate dependent 3
    lysosomal cytochrome b
    lysosomal cytochrome b561
    NP_001154924.1
    NP_001154926.1
    NP_001287692.1
    NP_705839.3
    XP_011543123.1
    XP_024304166.2
    XP_047282511.1
    XP_054223987.1
    XP_054223988.1
    XP_054223989.1
    XP_054223990.1

    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.

    mRNA and Protein(s)

    1. NM_001161452.2 → NP_001154924.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform 2

      See identical proteins and their annotated locations for NP_001154924.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice junction at the 5' end of the last exon compared to variant 4. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 3. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AK025870, AK225754, AP003108, BM692535, BP296553, BP396674, CF541093, DA948287
      Consensus CDS
      CCDS8004.1
      UniProtKB/Swiss-Prot
      B3KPU2, B4DLN9, J3KQH4, Q6PK96, Q8NBI2
      UniProtKB/TrEMBL
      F5H5L0
      Related
      ENSP00000437390.1, ENST00000536915.5
      Conserved Domains (1) summary
      cd08762
      Location:19 → 188
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product

    2. NM_001161454.1 → NP_001154926.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform 1

      See identical proteins and their annotated locations for NP_001154926.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) contains an alternate exon and uses an alternate splice junction at the 5' end of the last exon compared to variant 4. The resulting isoform (1) is longer at the N-terminus and has a shorter and distinct C-terminus compared to isoform 3.
      Source sequence(s)
      AA085565, AK025870, AK297084, BP366144, BP396674, CF125719, DC378209, DC389589
      Consensus CDS
      CCDS53639.1
      UniProtKB/Swiss-Prot
      Q8NBI2
      Related
      ENSP00000398979.2, ENST00000426130.6
      Conserved Domains (1) summary
      cd08762
      Location:36 → 205
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product

    3. NM_001300763.2 → NP_001287692.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform 3

      See identical proteins and their annotated locations for NP_001287692.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (3).
      Source sequence(s)
      AI813810, AK056751, AP003108, CF125719
      Consensus CDS
      CCDS73296.1
      UniProtKB/TrEMBL
      F5H1Q2
      Related
      ENSP00000389745.2, ENST00000447532.6
      Conserved Domains (1) summary
      cd08762
      Location:19 → 188
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product

    4. NM_153611.6 → NP_705839.3  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform 2

      See identical proteins and their annotated locations for NP_705839.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of the last exon compared to variant 4. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 3. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS8004.1
      UniProtKB/Swiss-Prot
      B3KPU2, B4DLN9, J3KQH4, Q6PK96, Q8NBI2
      UniProtKB/TrEMBL
      F5H5L0
      Related
      ENSP00000294072.4, ENST00000294072.9
      Conserved Domains (1) summary
      cd08762
      Location:19 → 188
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61348745..61362283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544821.3 → XP_011543123.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

      See identical proteins and their annotated locations for XP_011543123.1

      Conserved Domains (1) summary
      cd08762
      Location:36 → 205
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product

    2. XM_047426555.1 → XP_047282511.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

    3. XM_024448398.2 → XP_024304166.2  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X2

    RNA

    1. XR_007062461.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61337352..61350891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368012.1 → XP_054223987.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

    2. XM_054368014.1 → XP_054223989.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

    3. XM_054368013.1 → XP_054223988.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

    4. XM_054368015.1 → XP_054223990.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X2

    RNA

    1. XR_008488363.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBI2.1 GenPept UniProtKB/Swiss-Prot:Q8NBI2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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