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    BAHCC1 BAH domain and coiled-coil containing 1 [ Homo sapiens (human) ]

    Gene ID: 57597, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BAHCC1provided by HGNC
    Official Full Name
    BAH domain and coiled-coil containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29279
    See related
    Ensembl:ENSG00000266074 MIM:617646; AllianceGenome:HGNC:29279
    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
    BAHD2
    Summary
    Predicted to enable chromatin binding activity. Predicted to act upstream of or within chromatin organization; locomotory behavior; and neuron differentiation. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 2.7), prostate (RPKM 2.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See BAHCC1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81395457..81466331)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82310622..82383340)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79369257..79433357)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79352685-79353284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79353285-79353884 Neighboring gene long intergenic non-protein coding RNA 3048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79359790-79360358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79361743-79362302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79362303-79362862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79362863-79363420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79364001-79364559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79367354-79367911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79369995-79370603 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:79370604-79371212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79376071-79376596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79379388-79379942 Neighboring gene Sharpr-MPRA regulatory region 9433 Neighboring gene microRNA 4740 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79386221-79386468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79386861-79387562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79390656-79391605 Neighboring gene uncharacterized LOC124904084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79422900-79423848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79423849-79424797 Neighboring gene microRNA 3186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79438477-79438978 Neighboring gene CRISPRi-validated cis-regulatory element chr17.6006 Neighboring gene long intergenic non-protein coding RNA 1971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9127 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79455547-79456267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79456989-79457708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79460397-79460898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79466919-79467642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9128 Neighboring gene actin gamma 1

    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. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. Ikeda T, et al. J Hum Genet, 2017 Apr. PMID 27928163
    2. BAHCC1 binds H3K27me3 via a conserved BAH module to mediate gene silencing and oncogenesis. Fan H, et al. Nat Genet, 2020 Dec. PMID 33139953, Free PMC Article
    3. Family with sequence similarity 60A (FAM60A) protein is a cell cycle-fluctuating regulator of the SIN3-HDAC1 histone deacetylase complex. Muñoz IM, et al. J Biol Chem, 2012 Sep 21. PMID 22865885, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
    5. Recruitment of the Mammalian Histone-modifying EMSY Complex to Target Genes Is Regulated by ZNF131. Varier RA, et al. J Biol Chem, 2016 Apr 1. PMID 26841866, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23058, KIAA1447

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BAH and coiled-coil domain-containing protein 1
    Names
    BAH domain-containing protein 2
    bromo adjacent homology domain-containing protein 2

    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_001291324.3 → NP_001278253.1  BAH and coiled-coil domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001278253.1

      Status: VALIDATED

      Source sequence(s)
      AC110285, AC139149, AC213194
      Consensus CDS
      CCDS92415.1
      UniProtKB/Swiss-Prot
      A0A075B747, Q5U629, Q9P281
      UniProtKB/TrEMBL
      A0AAG2UUQ8
      Related
      ENSP00000462154.4, ENST00000584436.7
      Conserved Domains (2) summary
      cd04714
      Location:2512 → 2631
      BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...
      cl26464
      Location:850 → 1253
      Atrophin-1; Atrophin-1 family

    2. NM_001377448.1 → NP_001364377.1  BAH and coiled-coil domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC110285, AC139149, AC213194
      Consensus CDS
      CCDS74173.2
      UniProtKB/TrEMBL
      A0AAG2UUQ8, F8WBW8
      Related
      ENSP00000502710.1, ENST00000675386.2
      Conserved Domains (2) summary
      cd04714
      Location:2481 → 2600
      BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...
      cd20470
      Location:1938 → 2006
      Tudor_BAHCC1; Tudor domain found in BAH and coiled-coil domain-containing protein 1 (BAHCC1) and similar proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81395457..81466331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436467.1 → XP_047292423.1  BAH and coiled-coil domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2UUQ8

    2. XM_011525063.3 → XP_011523365.1  BAH and coiled-coil domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0AAG2UUQ8
      Conserved Domains (1) summary
      cd04714
      Location:2504 → 2623
      BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...

    3. XM_047436466.1 → XP_047292422.1  BAH and coiled-coil domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A075B747, Q5U629, Q9P281
      UniProtKB/TrEMBL
      A0AAG2UUQ8

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791805.1 Reference GRCh38.p14 PATCHES

      Range
      50095..122536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333222.1 → XP_054189197.1  BAH and coiled-coil domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2UUQ8

    2. XM_054333221.1 → XP_054189196.1  BAH and coiled-coil domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2UUQ8, A0AAG2UUZ7

    3. XM_054333223.1 → XP_054189198.1  BAH and coiled-coil domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0AAG2UUQ8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82310622..82383340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316757.1 → XP_054172732.1  BAH and coiled-coil domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2UUQ8

    2. XM_054316758.1 → XP_054172733.1  BAH and coiled-coil domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0AAG2UUQ8

    3. XM_054316756.1 → XP_054172731.1  BAH and coiled-coil domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2UUQ8, A0AAG2UUZ7

    4. XM_054316759.1 → XP_054172734.1  BAH and coiled-coil domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      A0AAG2UUQ8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080519.2: Suppressed sequence

      Description
      NM_001080519.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_024696.1: Suppressed sequence

      Description
      NM_024696.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P281.4 GenPept UniProtKB/Swiss-Prot:Q9P281

    Gene LinkOut

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

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