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BTBD7 BTB domain containing 7 [ Homo sapiens (human) ]

Gene ID: 55727, updated on 1-Jun-2020

Summary

Official Symbol
BTBD7provided by HGNC
Official Full Name
BTB domain containing 7provided by HGNC
Primary source
HGNC:HGNC:18269
See related
Ensembl:ENSG00000011114 MIM:610386
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
FUP1
Expression
Ubiquitous expression in thyroid (RPKM 8.5), endometrium (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See BTBD7 in Genome Data Viewer
Location:
14q32.12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (93237550..93333036, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93703896..93799385, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L18a pseudogene 1 Neighboring gene GON7 subunit of KEOPS complex Neighboring gene ubiquitin protein ligase E3 component n-recognin 7 Neighboring gene ribosomal protein L36a pseudogene 4 Neighboring gene unc-79 homolog, NALCN channel complex subunit Neighboring gene cytochrome c oxidase subunit 8C Neighboring gene RNA, U6 small nuclear 1258, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC48310, DKFZp686N0544

Gene Ontology Provided by GOA

Process Evidence Code Pubs
morphogenesis of a branching epithelium IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of branching involved in salivary gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
BTB/POZ domain-containing protein 7
Names
BTB (POZ) domain containing 7

NCBI Reference Sequences (RefSeq)

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_001002860.4NP_001002860.2  BTB/POZ domain-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001002860.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB040958, AK074354, AL132838, BC047071
    Consensus CDS
    CCDS32146.1
    UniProtKB/Swiss-Prot
    Q9P203
    Related
    ENSP00000335615.5, ENST00000334746.10
    Conserved Domains (4) summary
    smart00225
    Location:268397
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:410488
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:134235
    BTB; BTB/POZ domain
    cl02518
    Location:269393
    BTB; BTB/POZ domain
  2. NM_001289133.2NP_001276062.1  BTB/POZ domain-containing protein 7 isoform 3

    See identical proteins and their annotated locations for NP_001276062.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB040958, AK074354, AL132838, BX248762
    Consensus CDS
    CCDS73684.1
    UniProtKB/Swiss-Prot
    Q9P203
    Related
    ENSP00000451010.1, ENST00000554565.5
    Conserved Domains (1) summary
    smart00875
    Location:59137
    BACK; BTB And C-terminal Kelch
  3. NM_018167.5NP_060637.1  BTB/POZ domain-containing protein 7 isoform 2

    See identical proteins and their annotated locations for NP_060637.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC047071, BX248762
    Consensus CDS
    CCDS32147.1
    UniProtKB/Swiss-Prot
    Q9P203
    Related
    ENSP00000298896.3, ENST00000298896.7
    Conserved Domains (3) summary
    smart00225
    Location:143230
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:134235
    BTB; BTB/POZ domain
    cl02518
    Location:269340
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    93237550..93333036 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536939.2XP_011535241.1  BTB/POZ domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011535241.1

    UniProtKB/Swiss-Prot
    Q9P203
    Conserved Domains (4) summary
    smart00225
    Location:268397
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:410488
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:134235
    BTB; BTB/POZ domain
    cl02518
    Location:269393
    BTB; BTB/POZ domain
  2. XM_017021438.1XP_016876927.1  BTB/POZ domain-containing protein 7 isoform X2

    Related
    ENSP00000450778.1, ENST00000553975.1

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    352112..447598 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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