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

Gene ID: 57597, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81395457..81466331)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82310622..82383340)
105.20220307 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. 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
  2. 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
  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 (21) 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)

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

  • 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
    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
    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_2023_10

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

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

    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

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

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

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

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

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

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

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

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

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