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

Gene ID: 114792, updated on 21-Dec-2019

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
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

Genomic context

See KLHL32 in Genome Data Viewer
Location:
6q16.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (96898083..97145030)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97372496..97588630)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 63 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 Neighboring gene RNA, 7SL, cytoplasmic 509, pseudogene Neighboring gene VISTA enhancer hs676 Neighboring gene MMS22 like, DNA repair protein Neighboring gene uncharacterized LOC101927314 Neighboring gene VISTA enhancer hs978 Neighboring gene uncharacterized LOC105377909

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC51280, MGC87753

General protein information

Preferred Names
kelch-like protein 32
Names
BTB and kelch domain containing 5

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_001286250.1NP_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_001286251.1NP_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_001286254.2NP_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/Swiss-Prot
    Q96NJ5
    UniProtKB/TrEMBL
    A0A087WYQ8
    Related
    ENSP00000482012.1, ENST00000620278.1
    Conserved Domains (2) summary
    sd00038
    Location:2070
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:293
    BTB; Broad-Complex, Tramtrack and Bric a brac
  5. NM_001323252.1NP_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
    Q96NJ5
    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_001323253.1NP_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, DC314842
    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_001323254.1NP_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, DC314842, 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_001323257.1NP_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, DC314842, 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_001323258.1NP_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_001323260.1NP_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, DC314842
    UniProtKB/Swiss-Prot
    Q96NJ5
    Conserved Domains (3) summary
    sd00038
    Location:113161
    Kelch; KELCH repeat [structural motif]
    cl26060
    Location:266358
    NanM; N-acetylneuraminic acid mutarotase [Cell wall/membrane/envelope biogenesis]
    cl28614
    Location:66304
    BTB; Broad-Complex, Tramtrack and Bric a brac
  14. NM_001323261.1NP_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 (3) summary
    sd00038
    Location:113161
    Kelch; KELCH repeat [structural motif]
    cl26060
    Location:266358
    NanM; N-acetylneuraminic acid mutarotase [Cell wall/membrane/envelope biogenesis]
    cl28614
    Location:66304
    BTB; Broad-Complex, Tramtrack and Bric a brac
  15. NM_001323262.1NP_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_001323263.1NP_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_001323264.1NP_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
    Q96NJ5
    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_104421.1 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_136579.1 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_136580.1 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, DC314842

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    96898083..97145030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266813.5XP_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
  2. XM_017010228.2XP_016865717.1  kelch-like protein 32 isoform X2

  3. XM_017010229.2XP_016865718.1  kelch-like protein 32 isoform X3

RNA

  1. XR_001743153.2 RNA Sequence

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