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    C6orf89 chromosome 6 open reading frame 89 [ Homo sapiens (human) ]

    Gene ID: 221477, updated on 14-Nov-2024

    Summary

    Official Symbol
    C6orf89provided by HGNC
    Official Full Name
    chromosome 6 open reading frame 89provided by HGNC
    Primary source
    HGNC:HGNC:21114
    See related
    Ensembl:ENSG00000198663 MIM:616642; AllianceGenome:HGNC:21114
    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
    BRAP; PS1TP5TP1
    Summary
    Involved in several processes, including chromatin remodeling; epithelial cell proliferation; and wound healing. Located in several cellular components, including Golgi membrane; midbody; and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018]
    Expression
    Ubiquitous expression in thyroid (RPKM 22.1), brain (RPKM 16.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C6orf89 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36871844..36928964)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36692455..36749587)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36839620..36896740)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5789 silencer Neighboring gene G protein-coupled receptor 166, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:36723139-36724338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36727049-36728017 Neighboring gene copine 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36733508-36734405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36736445-36736976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36739695-36740194 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:36744935-36745643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36761234-36761900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36761901-36762565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36773485-36773986 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36778800-36778968 Neighboring gene Sharpr-MPRA regulatory region 12831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36808578-36809128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:36827605-36828106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36835405-36835904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24445 Neighboring gene peptidylprolyl isomerase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17122 Neighboring gene Sharpr-MPRA regulatory region 12138 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36907574-36908164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36926417-36926918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36926919-36927418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36930796-36931421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36931422-36932046 Neighboring gene peptidase inhibitor 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36948504-36949104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:36953526-36954248 Neighboring gene mitochondrial carrier 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ25357, MGC126060, MGC126061, MGC126062

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in Golgi membrane  
    located_in Golgi membrane PubMed 
    located_in cytoplasm PubMed 
    located_in midbody PubMed 
    located_in nucleolus PubMed 
    located_in nucleolus  
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    bombesin receptor-activated protein C6orf89
    Names
    amfion

    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_001286635.2NP_001273564.1  bombesin receptor-activated protein C6orf89 isoform b

      See identical proteins and their annotated locations for NP_001273564.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additional exon in the 5' region, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AJ420511, AL122034, BC095423
      Consensus CDS
      CCDS69100.1
      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
      Related
      ENSP00000475947.1, ENST00000480824.7
    2. NM_001286636.2NP_001273565.1  bombesin receptor-activated protein C6orf89 isoform c

      See identical proteins and their annotated locations for NP_001273565.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate 5' exon structure, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AJ420511, AK058086, AL122034
      Consensus CDS
      CCDS75444.1
      UniProtKB/TrEMBL
      Q96LN2
      Related
      ENSP00000352316.2, ENST00000359359.6
    3. NM_001286637.2NP_001273566.1  bombesin receptor-activated protein C6orf89 isoform c

      See identical proteins and their annotated locations for NP_001273566.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an additional exon and uses an alternate splice site in the 5' region, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AJ420511, AK315984, AL122034
      Consensus CDS
      CCDS75444.1
      UniProtKB/TrEMBL
      Q96LN2
    4. NM_152734.4NP_689947.2  bombesin receptor-activated protein C6orf89 isoform a

      See identical proteins and their annotated locations for NP_689947.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL122034, BC105947
      Consensus CDS
      CCDS4827.1
      UniProtKB/Swiss-Prot
      Q6UWU4
      Related
      ENSP00000347322.3, ENST00000355190.7

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      36871844..36928964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418339.1XP_047274295.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    2. XM_047418337.1XP_047274293.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    3. XM_047418342.1XP_047274298.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    4. XM_047418340.1XP_047274296.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    5. XM_047418338.1XP_047274294.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    6. XM_047418341.1XP_047274297.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    7. XM_047418336.1XP_047274292.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      36692455..36749587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354588.1XP_054210563.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    2. XM_054354590.1XP_054210565.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    3. XM_054354589.1XP_054210564.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
    4. XM_054354587.1XP_054210562.1  bombesin receptor-activated protein C6orf89 isoform X1

      UniProtKB/Swiss-Prot
      B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35
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