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    KLHL32 kelch like family member 32 [ Homo sapiens (human) ]

    Gene ID: 114792, updated on 17-Sep-2024

    Summary

    Official Symbol
    KLHL32provided by HGNC
    Official Full Name
    kelch like family member 32provided by HGNC
    Primary source
    HGNC:HGNC:21221
    See related
    Ensembl:ENSG00000186231 AllianceGenome:HGNC:21221
    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
    BKLHD5; KIAA1900; dJ21F7.1; UG0030H05
    Expression
    Biased expression in brain (RPKM 4.5), testis (RPKM 0.6) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KLHL32 in Genome Data Viewer
    Location:
    6q16.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (96898083..97140753)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (98069884..98314177)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97345959..97588629)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17408 Neighboring gene G protein-coupled receptor 63 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17409 Neighboring gene MPRA-validated peak5969 silencer Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 Neighboring gene RNA, 7SL, cytoplasmic 509, pseudogene Neighboring gene MPRA-validated peak5970 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:97439657-97440156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24847 Neighboring gene Sharpr-MPRA regulatory region 4079 Neighboring gene VISTA enhancer hs676 Neighboring gene MPRA-validated peak5971 silencer Neighboring gene MMS22 like, DNA repair protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24849 Neighboring gene uncharacterized LOC101927314 Neighboring gene VISTA enhancer hs978 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:97869967-97870670 Neighboring gene uncharacterized LOC105377909

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
    EBI GWAS Catalog
    Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients.
    EBI GWAS Catalog
    Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC51280, MGC87753

    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-like protein 32
    Names
    BTB and kelch domain containing 5

    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_001286250.2NP_001273179.1  kelch-like protein 32 isoform b

      See identical proteins and their annotated locations for NP_001273179.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AB067487, AK295479, DA296671, DC314842
      Consensus CDS
      CCDS69154.1
      UniProtKB/Swiss-Prot
      Q96NJ5
      Related
      ENSP00000440382.1, ENST00000536676.5
      Conserved Domains (7) summary
      smart00612
      Location:255310
      Kelch; Kelch domain
      smart00875
      Location:108208
      BACK; BTB And C-terminal Kelch
      PHA03098
      Location:30554
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:300348
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32132
      BTB; BTB/POZ domain
      pfam01344
      Location:447493
      Kelch_1; Kelch motif
      pfam13964
      Location:300352
      Kelch_6; Kelch motif
    2. NM_001286251.2NP_001273180.1  kelch-like protein 32 isoform c

      See identical proteins and their annotated locations for NP_001273180.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AB067487, AK297240, DA296671, DC314842
      Consensus CDS
      CCDS69155.1
      UniProtKB/Swiss-Prot
      Q96NJ5
      Related
      ENSP00000441527.1, ENST00000539200.5
      Conserved Domains (7) summary
      smart00612
      Location:222277
      Kelch; Kelch domain
      smart00225
      Location:43102
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:75175
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:267315
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:3270
      BTB; BTB/POZ domain
      pfam01344
      Location:414460
      Kelch_1; Kelch motif
      pfam13964
      Location:267319
      Kelch_6; Kelch motif
    3. NM_001286252.2NP_001273181.1  kelch-like protein 32 isoform d

      See identical proteins and their annotated locations for NP_001273181.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks four exons in the 3' coding region but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BC071627, DA296671, DC314842, HY334128
      UniProtKB/TrEMBL
      Q6IQ08
      Conserved Domains (3) summary
      sd00038
      Location:336385
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32137
      BTB; BTB/POZ domain
      cl28614
      Location:30452
      BTB; Broad-Complex, Tramtrack and Bric a brac
    4. NM_001286254.3NP_001273183.1  kelch-like protein 32 isoform e

      See identical proteins and their annotated locations for NP_001273183.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains alternate 5' exon structure, differs in its 5' UTR, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is significantly shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB067487, BC047491, BX645412
      Consensus CDS
      CCDS75495.1
      UniProtKB/TrEMBL
      A0A087WYQ8, Q8IXH0
      Related
      ENSP00000482012.1, ENST00000620278.1
      Conserved Domains (2) summary
      PHA03098
      Location:293
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:2070
      Kelch; KELCH repeat [structural motif]
    5. NM_001323252.2NP_001310181.1  kelch-like protein 32 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Both variants 1 and 7 encode the same isoform (a).
      Source sequence(s)
      AB067487, DA296671, DA332224, DC314842
      Consensus CDS
      CCDS5038.1
      UniProtKB/Swiss-Prot
      B7Z346, B7Z4E2, E1P528, Q5THT0, Q96NJ5, Q96PY7
      Conserved Domains (7) summary
      smart00612
      Location:291346
      Kelch; Kelch domain
      smart00875
      Location:144244
      BACK; BTB And C-terminal Kelch
      PHA03098
      Location:30590
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:336384
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32136
      BTB; BTB/POZ domain
      pfam01344
      Location:483529
      Kelch_1; Kelch motif
      pfam13964
      Location:336388
      Kelch_6; Kelch motif
    6. NM_001323253.2NP_001310182.1  kelch-like protein 32 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks two alternate exons, resulting in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (f) is shorter than isoform a.
      Source sequence(s)
      AB067487, AK055292, DA296671
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (7) summary
      smart00612
      Location:291346
      Kelch; Kelch domain
      smart00225
      Location:43139
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:144244
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:336384
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32136
      BTB; BTB/POZ domain
      pfam01344
      Location:388431
      Kelch_1; Kelch motif
      pfam13964
      Location:336388
      Kelch_6; Kelch motif
    7. NM_001323254.2NP_001310183.1  kelch-like protein 32 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks an alternate in-frame exon in the central coding region, and also two other exons that result in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (g) is shorter than isoform a.
      Source sequence(s)
      AB067487, AK055292, DA296671, HY131926
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (4) summary
      smart00875
      Location:137172
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:264312
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32137
      BTB; BTB/POZ domain
      cl28614
      Location:217408
      BTB; Broad-Complex, Tramtrack and Bric a brac
    8. NM_001323255.2NP_001310184.1  kelch-like protein 32 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) lacks an alternate in-frame exon and several 3' exons, but it contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (h) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK055292, BC071627, DA296671, HY131926, HY334128
      UniProtKB/Swiss-Prot
      Q96NJ5
      UniProtKB/TrEMBL
      Q6IQ08
    9. NM_001323256.2NP_001310185.1  kelch-like protein 32 isoform i

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) contains an additional internal exon and lacks several 3' exons, but it contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (i) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK055292, BC071627, BG181952, DA296671, HY334128
      UniProtKB/Swiss-Prot
      Q96NJ5
      UniProtKB/TrEMBL
      Q6IQ08
    10. NM_001323257.2NP_001310186.1  kelch-like protein 32 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (j) that is shorter than isoform a.
      Source sequence(s)
      AB067487, AK055292, DA296671, HY131926
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (3) summary
      sd00038
      Location:264312
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32137
      BTB; BTB/POZ domain
      cl28614
      Location:30518
      BTB; Broad-Complex, Tramtrack and Bric a brac
    11. NM_001323258.2NP_001310187.1  kelch-like protein 32 isoform k

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and lacks several 3' exons, but it contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (k) has a distinct C-terminus and is shorter than isoform a. Both variants 13 and 14 encode isoform k.
      Source sequence(s)
      AL159985, BC071627, DA255882, HY013072, HY334128
      UniProtKB/TrEMBL
      Q6IQ08
    12. NM_001323259.2NP_001310188.1  kelch-like protein 32 isoform k

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) lacks several 3' exons, but it contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (k) has a distinct C-terminus and is shorter than isoform a. Both variants 13 and 14 encode isoform k.
      Source sequence(s)
      AK055292, BC071627, DA255882, DA296671, HY334128
      UniProtKB/Swiss-Prot
      Q96NJ5
      UniProtKB/TrEMBL
      Q6IQ08
    13. NM_001323260.2NP_001310189.1  kelch-like protein 32 isoform l

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) uses an alternate splice site in an internal exon, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (l) is shorter at the N-terminus, compared to isoform a. Both variants 15 and 16 encode isoform l.
      Source sequence(s)
      AB067487, AK055292, DA255882, DA296671
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (2) summary
      PHA03098
      Location:66304
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:113161
      Kelch; KELCH repeat [structural motif]
    14. NM_001323261.2NP_001310190.1  kelch-like protein 32 isoform l

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16) contains alternate 5' exon structure and uses an alternate splice site in an internal exon, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (l) is shorter at the N-terminus, compared to isoform a. Both variants 15 and 16 encode isoform l.
      Source sequence(s)
      AB067487, BX645412, DA255882
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (2) summary
      PHA03098
      Location:66304
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:113161
      Kelch; KELCH repeat [structural motif]
    15. NM_001323262.2NP_001310191.1  kelch-like protein 32 isoform m

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17) contains alternate 5' exon structure and uses an alternate splice site in an internal exon, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, and it also lacks two exons that cause the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (m) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB067487, BX645412, DA255882
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (2) summary
      sd00038
      Location:113161
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:66257
      BTB; Broad-Complex, Tramtrack and Bric a brac
    16. NM_001323263.2NP_001310192.1  kelch-like protein 32 isoform n

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18) lacks three 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (n) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AB067487, BX645412
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (6) summary
      smart00612
      Location:227282
      Kelch; Kelch domain
      smart00875
      Location:80180
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:272320
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:419465
      Kelch_1; Kelch motif
      pfam13964
      Location:272324
      Kelch_6; Kelch motif
      cl02518
      Location:572
      BTB; BTB/POZ domain
    17. NM_001323264.2NP_001310193.1  kelch-like protein 32 isoform o

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19) lacks three 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, and it also lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (o) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AB067487, BX645412
      UniProtKB/Swiss-Prot
      Q96NJ5
      Conserved Domains (6) summary
      smart00612
      Location:155210
      Kelch; Kelch domain
      smart00875
      Location:73108
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:200248
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:347393
      Kelch_1; Kelch motif
      pfam13964
      Location:200252
      Kelch_6; Kelch motif
      cl02518
      Location:572
      BTB; BTB/POZ domain
    18. NM_052904.4NP_443136.2  kelch-like protein 32 isoform a

      See identical proteins and their annotated locations for NP_443136.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 7 encode the same isoform (a).
      Source sequence(s)
      AB067487, AK055292, DA296671
      Consensus CDS
      CCDS5038.1
      UniProtKB/Swiss-Prot
      B7Z346, B7Z4E2, E1P528, Q5THT0, Q96NJ5, Q96PY7
      Related
      ENSP00000358265.4, ENST00000369261.9
      Conserved Domains (7) summary
      smart00612
      Location:291346
      Kelch; Kelch domain
      smart00875
      Location:144244
      BACK; BTB And C-terminal Kelch
      PHA03098
      Location:30590
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:336384
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:32136
      BTB; BTB/POZ domain
      pfam01344
      Location:483529
      Kelch_1; Kelch motif
      pfam13964
      Location:336388
      Kelch_6; Kelch motif

    RNA

    1. NR_104421.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons in the central region, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB067487, AF351610, DA296671, DC314842
      Related
      ENST00000544166.5
    2. NR_136579.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20) contains alternate 5' exon structure and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which is in-frame with the coding region of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB067487, BX645412
    3. NR_136580.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB067487, AK055292, BC047491, DA296671

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      96898083..97140753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418150.1XP_047274106.1  kelch-like protein 32 isoform X5

    2. XM_047418149.1XP_047274105.1  kelch-like protein 32 isoform X3

    3. XM_005266813.6XP_005266870.1  kelch-like protein 32 isoform X1

      See identical proteins and their annotated locations for XP_005266870.1

      Conserved Domains (6) summary
      smart00612
      Location:222277
      Kelch; Kelch domain
      smart00875
      Location:75175
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:267315
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:414460
      Kelch_1; Kelch motif
      pfam13964
      Location:267319
      Kelch_6; Kelch motif
      cl02518
      Location:167
      BTB; BTB/POZ domain
    4. XM_017010228.3XP_016865717.1  kelch-like protein 32 isoform X2

    5. XM_017010229.3XP_016865718.1  kelch-like protein 32 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      98069884..98314177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354165.1XP_054210140.1  kelch-like protein 32 isoform X5

    2. XM_054354163.1XP_054210138.1  kelch-like protein 32 isoform X3

    3. XM_054354161.1XP_054210136.1  kelch-like protein 32 isoform X1

    4. XM_054354162.1XP_054210137.1  kelch-like protein 32 isoform X2

    5. XM_054354164.1XP_054210139.1  kelch-like protein 32 isoform X4