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BTBD3 BTB domain containing 3 [ Homo sapiens (human) ]

Gene ID: 22903, updated on 8-May-2016
Official Symbol
BTBD3provided by HGNC
Official Full Name
BTB domain containing 3provided by HGNC
Primary source
HGNC:HGNC:15854
See related
Ensembl:ENSG00000132640 HPRD:12538; MIM:615566; Vega:OTTHUMG00000031889
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
dJ742J24.1
Orthologs
Location:
20p12.2
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (11890723..11926595)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (11871377..11907243)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372530 Neighboring gene long intergenic non-protein coding RNA 687 Neighboring gene anaphase promoting complex subunit 13 pseudogene Neighboring gene uncharacterized LOC105372531 Neighboring gene uncharacterized LOC105372534 Neighboring gene proliferation-associated 2G4 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0952, MGC130038, MGC130039

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
BTB/POZ domain-containing protein 3
Names
BTB (POZ) domain containing 3

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_001282550.1NP_001269479.1  BTB/POZ domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001269479.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (b) is shorter at the N-terminus compared to isoform d. Variants 3 and 4 both encode the same isoform (b).
    Source sequence(s)
    AA127941, AK299281, AL035448, DC418438
    Consensus CDS
    CCDS13114.1
    UniProtKB/Swiss-Prot
    Q9Y2F9
    UniProtKB/TrEMBL
    B4DRI6
    Related
    ENSP00000483520, ENST00000618918
    Conserved Domains (3) summary
    pfam08005
    Location:315460
    PHR; PHR domain
    smart00875
    Location:165271
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:52159
    BTB; BTB/POZ domain
  2. NM_001282551.1NP_001269480.1  BTB/POZ domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001269480.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (b) is shorter at the N-terminus compared to isoform d. Variants 3 and 4 both encode the same isoform (b).
    Source sequence(s)
    AA127941, AL035448, BC109316, DC314595
    Consensus CDS
    CCDS13114.1
    UniProtKB/Swiss-Prot
    Q9Y2F9
    Related
    ENSP00000477589, ENST00000618296
    Conserved Domains (3) summary
    pfam08005
    Location:315460
    PHR; PHR domain
    smart00875
    Location:165271
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:52159
    BTB; BTB/POZ domain
  3. NM_001282552.2NP_001269481.1  BTB/POZ domain-containing protein 3 isoform c

    See identical proteins and their annotated locations for NP_001269481.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon and uses a downstream start codon compared to variant 2. It encodes isoform c, which has a shorter N-terminus compared to isoform b. Variants 5 and 6 both encode the same isoform (c).
    Source sequence(s)
    AA127941, AK299281, AL035448, DR759697
    UniProtKB/TrEMBL
    B4DK27, B4DRI6
    Conserved Domains (3) summary
    pfam08005
    Location:225370
    PHR; PHR domain
    smart00225
    Location:169
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:75181
    BACK; BTB And C-terminal Kelch
  4. NM_001282554.1NP_001269483.1  BTB/POZ domain-containing protein 3 isoform c

    See identical proteins and their annotated locations for NP_001269483.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate exon compared to variant 2. It encodes isoform c, which has a shorter N-terminus compared to isoform b. Variants 5 and 6 both encode the same isoform (c).
    Source sequence(s)
    AA127941, AK316256, AL035448, DC314595
    UniProtKB/TrEMBL
    B4DK27
    Conserved Domains (3) summary
    pfam08005
    Location:225370
    PHR; PHR domain
    smart00225
    Location:169
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:75181
    BACK; BTB And C-terminal Kelch
  5. NM_014962.3NP_055777.1  BTB/POZ domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_055777.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (a) has a shorter and distinct N-terminus compared to isoform d.
    Source sequence(s)
    AA127941, AB023169, AL035448, DC314595
    Consensus CDS
    CCDS13113.1
    UniProtKB/Swiss-Prot
    Q9Y2F9
    Related
    ENSP00000367471, ENST00000378226
    Conserved Domains (3) summary
    pfam08005
    Location:376521
    PHR; PHR domain
    smart00875
    Location:226332
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:113220
    BTB; BTB/POZ domain
  6. NM_181443.3NP_852108.2  BTB/POZ domain-containing protein 3 isoform d

    See identical proteins and their annotated locations for NP_852108.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (d).
    Source sequence(s)
    AA127941, AK299281, AL035448
    UniProtKB/TrEMBL
    B4DRI6
    Conserved Domains (3) summary
    pfam08005
    Location:419564
    PHR; PHR domain
    smart00875
    Location:269375
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:156263
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    11890723..11926595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529185.1XP_011527487.1  

    See identical proteins and their annotated locations for XP_011527487.1

    UniProtKB/TrEMBL
    B4DK27
    Conserved Domains (3) summary
    pfam08005
    Location:225370
    PHR; PHR domain
    smart00225
    Location:169
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:75181
    BACK; BTB And C-terminal Kelch

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    11871409..11907292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)