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KBTBD4 kelch repeat and BTB domain containing 4 [ Homo sapiens (human) ]

Gene ID: 55709, updated on 13-Mar-2020

Summary

Official Symbol
KBTBD4provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 4provided by HGNC
Primary source
HGNC:HGNC:23761
See related
Ensembl:ENSG00000123444 MIM:617645
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
BKLHD4; HSPC252
Expression
Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues See more
Orthologs

Genomic context

See KBTBD4 in Genome Data Viewer
Location:
11p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (47572197..47579015, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47593749..47600567, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene receptor associated protein of the synapse Neighboring gene CUGBP Elav-like family member 1 Neighboring gene RNA, 7SL, cytoplasmic 652, pseudogene Neighboring gene protein tyrosine phosphatase mitochondrial 1 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene NADH:ubiquinone oxidoreductase core subunit S3 Neighboring gene family with sequence similarity 180 member B

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10450

General protein information

Preferred Names
kelch repeat and BTB domain-containing protein 4
Names
BTB and kelch domain containing 4
BTB and kelch domain-containing protein 4
kelch repeat and BTB (POZ) domain containing 4

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_001318716.1NP_001305645.1  kelch repeat and BTB domain-containing protein 4 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AL713735, BI601113, HY182004
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (6) summary
    smart00225
    Location:95189
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14733
    Location:191249
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    TIGR03548
    Location:403560
    mutarot_permut; cyclically-permuted mutarotase family protein
    sd00038
    Location:328363
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:88187
    BTB; BTB/POZ domain
    pfam07646
    Location:327363
    Kelch_2; Kelch motif
  2. NM_001318717.1NP_001305646.1  kelch repeat and BTB domain-containing protein 4 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AL713735, DA016320, HY176105
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (6) summary
    smart00225
    Location:85179
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14733
    Location:181239
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    TIGR03548
    Location:393550
    mutarot_permut; cyclically-permuted mutarotase family protein
    sd00038
    Location:318353
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:78177
    BTB; BTB/POZ domain
    pfam07646
    Location:317353
    Kelch_2; Kelch motif
  3. NM_001318718.1NP_001305647.1  kelch repeat and BTB domain-containing protein 4 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (e) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AL713735, BI908078, DA016320
    Consensus CDS
    CCDS81566.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    UniProtKB/TrEMBL
    A0A075B6T4
    Related
    ENSP00000436713.1, ENST00000533290.5
    Conserved Domains (6) summary
    smart00225
    Location:71165
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14733
    Location:167225
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    TIGR03548
    Location:379536
    mutarot_permut; cyclically-permuted mutarotase family protein
    sd00038
    Location:304339
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:64163
    BTB; BTB/POZ domain
    pfam07646
    Location:303339
    Kelch_2; Kelch motif
  4. NM_001318719.1NP_001305648.1  kelch repeat and BTB domain-containing protein 4 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (g) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AL713735, DA016320, HY120885
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (6) summary
    smart00225
    Location:71165
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14733
    Location:167225
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    TIGR03548
    Location:379536
    mutarot_permut; cyclically-permuted mutarotase family protein
    sd00038
    Location:304339
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:64163
    BTB; BTB/POZ domain
    pfam07646
    Location:303339
    Kelch_2; Kelch motif
  5. NM_001318720.1NP_001305649.1  kelch repeat and BTB domain-containing protein 4 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AL713735, DA016320, HY062454
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (6) summary
    smart00225
    Location:69163
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14733
    Location:165223
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    TIGR03548
    Location:377534
    mutarot_permut; cyclically-permuted mutarotase family protein
    sd00038
    Location:302337
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:62161
    BTB; BTB/POZ domain
    pfam07646
    Location:301337
    Kelch_2; Kelch motif
  6. NM_001318721.1NP_001305650.1  kelch repeat and BTB domain-containing protein 4 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
    Source sequence(s)
    AC104942, AK001312, AL713735, DA016320
    Consensus CDS
    CCDS7940.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (4) summary
    cd14733
    Location:142200
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    sd00038
    Location:279314
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:35138
    BTB; BTB/POZ domain
    cl28614
    Location:47479
    BTB; Broad-Complex, Tramtrack and Bric a brac
  7. NM_001318722.1NP_001305651.1  kelch repeat and BTB domain-containing protein 4 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
    Source sequence(s)
    AL713735, DA016320, DB457928
    Consensus CDS
    CCDS7940.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (4) summary
    cd14733
    Location:142200
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    sd00038
    Location:279314
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:35138
    BTB; BTB/POZ domain
    cl28614
    Location:47479
    BTB; Broad-Complex, Tramtrack and Bric a brac
  8. NM_001318723.1NP_001305652.1  kelch repeat and BTB domain-containing protein 4 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
    Source sequence(s)
    AC104942, BC002736, DA016320
    Consensus CDS
    CCDS7940.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (4) summary
    cd14733
    Location:142200
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    sd00038
    Location:279314
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:35138
    BTB; BTB/POZ domain
    cl28614
    Location:47479
    BTB; Broad-Complex, Tramtrack and Bric a brac
  9. NM_001318724.1NP_001305653.1  kelch repeat and BTB domain-containing protein 4 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
    Source sequence(s)
    AL713735, DA016320, DA883418, DB457928
    Consensus CDS
    CCDS7940.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Related
    ENSP00000433340.1, ENST00000526005.5
    Conserved Domains (4) summary
    cd14733
    Location:142200
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    sd00038
    Location:279314
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:35138
    BTB; BTB/POZ domain
    cl28614
    Location:47479
    BTB; Broad-Complex, Tramtrack and Bric a brac
  10. NM_001318725.1NP_001305654.1  kelch repeat and BTB domain-containing protein 4 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
    Source sequence(s)
    AL713735, BI601113
    Consensus CDS
    CCDS7940.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Conserved Domains (4) summary
    cd14733
    Location:142200
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    sd00038
    Location:279314
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:35138
    BTB; BTB/POZ domain
    cl28614
    Location:47479
    BTB; Broad-Complex, Tramtrack and Bric a brac
  11. NM_016506.6NP_057590.3  kelch repeat and BTB domain-containing protein 4 isoform b

    See identical proteins and their annotated locations for NP_057590.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
    Source sequence(s)
    AC104942, AK001749, AL713735, DA016320, DB457928
    Consensus CDS
    CCDS7940.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Related
    ENSP00000378703.2, ENST00000395288.6
    Conserved Domains (4) summary
    cd14733
    Location:142200
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    sd00038
    Location:279314
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:35138
    BTB; BTB/POZ domain
    cl28614
    Location:47479
    BTB; Broad-Complex, Tramtrack and Bric a brac
  12. NM_018095.6NP_060565.4  kelch repeat and BTB domain-containing protein 4 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (a) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AC104942, KF459542
    Consensus CDS
    CCDS44594.1
    UniProtKB/Swiss-Prot
    Q9NVX7
    Related
    ENSP00000415106.2, ENST00000430070.7
    Conserved Domains (6) summary
    smart00225
    Location:62156
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14733
    Location:158216
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
    TIGR03548
    Location:370527
    mutarot_permut; cyclically-permuted mutarotase family protein
    sd00038
    Location:295330
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:55154
    BTB; BTB/POZ domain
    pfam07646
    Location:294330
    Kelch_2; Kelch motif

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    47572197..47579015 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018009.1XP_016873498.1  kelch repeat and BTB domain-containing protein 4 isoform X1

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p13 PATCHES

    Range
    23..6841 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_024222.1: Suppressed sequence

    Description
    NR_024222.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.
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