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

    Gene ID: 55709, updated on 6-Oct-2024

    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; AllianceGenome:HGNC:23761
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KBTBD4 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47572197..47578970, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47732619..47739392, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47593749..47600522, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902673 Neighboring gene uncharacterized LOC124902820 Neighboring gene receptor associated protein of the synapse Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47476965-47477464 Neighboring gene CUGBP Elav-like family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47531803-47532677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47563719-47564218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47572896-47573571 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47574247-47574922 Neighboring gene RNA, 7SL, cytoplasmic 652, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:47586662-47587162 and GRCh37_chr11:47587163-47587663 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47597510-47597690 Neighboring gene protein tyrosine phosphatase mitochondrial 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600081-47600740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600741-47601399 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47602141-47602358 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene MPRA-validated peak1274 silencer 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 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

    Clone Names

    • FLJ10450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    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)

    NEW Try the new Transcript table

    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_001318716.2NP_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)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      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_001318717.2NP_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)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      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_001318718.2NP_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)
      AC104942, KF459542
      Consensus CDS
      CCDS81566.1
      UniProtKB/TrEMBL
      Q53HN0
      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_001318719.2NP_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)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      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_001318720.2NP_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)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      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_001318721.2NP_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, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      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_001318722.2NP_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)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      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_001318723.2NP_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, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      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_001318724.2NP_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)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      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_001318725.2NP_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)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      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_016506.7NP_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, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      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
      A0A075B6T4, B3KRH9, D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
      UniProtKB/TrEMBL
      Q53HN0
      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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47572197..47578970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805496.1 Reference GRCh38.p14 PATCHES

      Range
      23..6796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47732619..47739392 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.