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

    Gene ID: 220002, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in adrenal (RPKM 44.3), lymph node (RPKM 18.0) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001161452.2NP_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:19188
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product
    2. NM_001161454.1NP_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:36205
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product
    3. NM_001300763.2NP_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:19188
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product
    4. NM_153611.6NP_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:19188
      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_011544821.3XP_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:36205
      Cyt_b561_CYBASC3; Vertebrate cytochrome b(561), CYBASC3 gene product
    2. XM_047426555.1XP_047282511.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

    3. XM_024448398.2XP_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_054368012.1XP_054223987.1  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform X1

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

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

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

    RNA

    1. XR_008488363.1 RNA Sequence