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    BTBD19 BTB domain containing 19 [ Homo sapiens (human) ]

    Gene ID: 149478, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BTBD19provided by HGNC
    Official Full Name
    BTB domain containing 19provided by HGNC
    Primary source
    HGNC:HGNC:27145
    See related
    Ensembl:ENSG00000222009 AllianceGenome:HGNC:27145
    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
    Expression
    Ubiquitous expression in endometrium (RPKM 2.8), gall bladder (RPKM 1.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD19 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44808523..44815585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44679677..44686711)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45274195..45281257)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45251699-45252384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45252385-45253070 Neighboring gene bestrophin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45257343-45258034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45258727-45259416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45265053-45265721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45271492-45272342 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:45272786-45273985 Neighboring gene polo like kinase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45274044-45274893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 953 Neighboring gene dynein light chain Tctex-type 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 821 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:45284771-45285427 and GRCh37_chr1:45285428-45286084 Neighboring gene uncharacterized LOC107984952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45286741-45287398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45287399-45288054 Neighboring gene RNA, U5E small nuclear 6, pseudogene Neighboring gene patched 2

    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    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)

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 19
    Names
    BTB (POZ) domain containing 19
    novel BTB domain containing protein

    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_001136537.3 → NP_001130009.1  BTB/POZ domain-containing protein 19 isoform 3

      See identical proteins and their annotated locations for NP_001130009.1

      Status: VALIDATED

      Source sequence(s)
      AL592166
      UniProtKB/Swiss-Prot
      B4E384, B7ZC36, B7ZC37, C9JJ37
      Related
      ENSP00000395461.1, ENST00000450269.6
      Conserved Domains (3) summary
      smart00225
      Location:30 → 123
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:137 → 233
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:19 → 123
      BTB; BTB/POZ domain

    2. NM_001394561.1 → NP_001381490.1  BTB/POZ domain-containing protein 19 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL592166
      Conserved Domains (2) summary
      cd18294
      Location:15 → 101
      BTB_POZ_BTBD19; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 19 (BTBD19)
      cd18494
      Location:221 → 288
      BACK_BTBD19; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 19 (BTBD19)

    3. NM_001394562.1 → NP_001381491.1  BTB/POZ domain-containing protein 19 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592166
      Conserved Domains (2) summary
      cd18294
      Location:15 → 102
      BTB_POZ_BTBD19; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 19 (BTBD19)
      cd18494
      Location:155 → 222
      BACK_BTBD19; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 19 (BTBD19)

    4. NM_001394563.1 → NP_001381492.1  BTB/POZ domain-containing protein 19 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL592166
      Conserved Domains (1) summary
      cd18494
      Location:99 → 166
      BACK_BTBD19; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 19 (BTBD19)

    5. NM_001394564.1 → NP_001381493.1  BTB/POZ domain-containing protein 19 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL592166
      Consensus CDS
      CCDS90937.1
      UniProtKB/TrEMBL
      A0A0A0MSF5
      Related
      ENSP00000520683.1, ENST00000718238.1
      Conserved Domains (2) summary
      cd18294
      Location:15 → 118
      BTB_POZ_BTBD19; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 19 (BTBD19)
      cl28903
      Location:101 → 163
      BACK; BACK (BTB and C-terminal Kelch) domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      44808523..44815585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540803.3 → XP_011539105.1  BTB/POZ domain-containing protein 19 isoform X1

      Conserved Domains (3) summary
      smart00225
      Location:30 → 96
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:224 → 320
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:19 → 94
      BTB; BTB/POZ domain

    2. XM_017000448.2 → XP_016855937.1  BTB/POZ domain-containing protein 19 isoform X2

    3. XM_006710386.4 → XP_006710449.1  BTB/POZ domain-containing protein 19 isoform X3

      Conserved Domains (3) summary
      smart00225
      Location:30 → 123
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:137 → 233
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:19 → 123
      BTB; BTB/POZ domain

    4. XM_011540805.3 → XP_011539107.1  BTB/POZ domain-containing protein 19 isoform X4

      Conserved Domains (2) summary
      smart00225
      Location:30 → 96
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:19 → 94
      BTB; BTB/POZ domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      44679677..44686711
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334660.1 → XP_054190635.1  BTB/POZ domain-containing protein 19 isoform X1

    2. XM_054334661.1 → XP_054190636.1  BTB/POZ domain-containing protein 19 isoform X2

    3. XM_054334662.1 → XP_054190637.1  BTB/POZ domain-containing protein 19 isoform X3

    4. XM_054334663.1 → XP_054190638.1  BTB/POZ domain-containing protein 19 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JJ37.1 GenPept UniProtKB/Swiss-Prot:C9JJ37

    Gene LinkOut

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