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

Gene ID: 149478, updated on 22-Oct-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
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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 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)

Genotypes

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

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