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KLHL13 kelch like family member 13 [ Homo sapiens (human) ]

Gene ID: 90293, updated on 29-Mar-2020

Summary

Official Symbol
KLHL13provided by HGNC
Official Full Name
kelch like family member 13provided by HGNC
Primary source
HGNC:HGNC:22931
See related
Ensembl:ENSG00000003096 MIM:300655
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BKLHD2
Summary
This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression
Broad expression in endometrium (RPKM 9.9), kidney (RPKM 3.7) and 15 other tissues See more
Orthologs

Genomic context

See KLHL13 in Genome Data Viewer
Location:
Xq24
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (117897813..118117340, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117031776..117251303, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SET pseudogene 8 Neighboring gene transcription elongation regulator 1 pseudogene Neighboring gene tubulin beta 4B class IVb pseudogene 3 Neighboring gene ribosomal protein L12 pseudogene 43

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
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10262, MGC74791

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cullin family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
midbody IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
kelch-like protein 13
Names
BTB and kelch domain containing 2
kelch-like 13

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.

Genomic

  1. NG_016759.1 RefSeqGene

    Range
    148603..224528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168299.1NP_001161771.1  kelch-like protein 13 isoform b

    See identical proteins and their annotated locations for NP_001161771.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) with a distinct and longer N-terminus, compared to isoform a.
    Source sequence(s)
    AK296324, BC008729, DC354391
    Consensus CDS
    CCDS55480.1
    UniProtKB/Swiss-Prot
    Q9P2N7
    UniProtKB/TrEMBL
    A0A0C4DG99, Q96HC9
    Related
    ENSP00000419803.2, ENST00000469946.5
    Conserved Domains (2) summary
    PHA03098
    Location:95638
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:382430
    Kelch; KELCH repeat [structural motif]
  2. NM_001168300.1NP_001161772.1  kelch-like protein 13 isoform c

    See identical proteins and their annotated locations for NP_001161772.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (c) with a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK299257, BC008729, DA214831, DA413195
    UniProtKB/Swiss-Prot
    Q9P2N7
    UniProtKB/TrEMBL
    Q96HC9
    Conserved Domains (2) summary
    PHA03098
    Location:86629
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:373421
    Kelch; KELCH repeat [structural motif]
  3. NM_001168301.1NP_001161773.1  kelch-like protein 13 isoform d

    See identical proteins and their annotated locations for NP_001161773.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AK302713, BC008729, BP380009
    Consensus CDS
    CCDS55481.1
    UniProtKB/Swiss-Prot
    Q9P2N7
    UniProtKB/TrEMBL
    Q96HC9
    Related
    ENSP00000444450.1, ENST00000541812.5
    Conserved Domains (2) summary
    PHA03098
    Location:76619
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:363411
    Kelch; KELCH repeat [structural motif]
  4. NM_001168302.1NP_001161774.1  kelch-like protein 13 isoform d

    See identical proteins and their annotated locations for NP_001161774.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AK316509, BC008729, DB074659, DC343916
    Consensus CDS
    CCDS55481.1
    UniProtKB/Swiss-Prot
    Q9P2N7
    UniProtKB/TrEMBL
    B7ZB44, Q96HC9
    Related
    ENSP00000441029.1, ENST00000540167.5
    Conserved Domains (2) summary
    PHA03098
    Location:76619
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:363411
    Kelch; KELCH repeat [structural motif]
  5. NM_001168303.1NP_001161775.1  kelch-like protein 13 isoform e

    See identical proteins and their annotated locations for NP_001161775.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (e) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AL591986, BC008729, DB074659, DC343916
    Consensus CDS
    CCDS55479.1
    UniProtKB/Swiss-Prot
    Q9P2N7
    UniProtKB/TrEMBL
    Q96HC9
    Related
    ENSP00000440707.1, ENST00000545703.5
    Conserved Domains (3) summary
    PHA03098
    Location:50593
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:337385
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:27154
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13
  6. NM_033495.3NP_277030.2  kelch-like protein 13 isoform a

    See identical proteins and their annotated locations for NP_277030.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AK125356, BC008729, BC064576
    Consensus CDS
    CCDS14571.1
    UniProtKB/Swiss-Prot
    Q9P2N7
    UniProtKB/TrEMBL
    Q96HC9
    Related
    ENSP00000262820.3, ENST00000262820.7
    Conserved Domains (2) summary
    PHA03098
    Location:92635
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:379427
    Kelch; KELCH repeat [structural 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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    117897813..118117340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531409.3XP_011529711.1  kelch-like protein 13 isoform X1

    See identical proteins and their annotated locations for XP_011529711.1

    Conserved Domains (6) summary
    smart00612
    Location:449494
    Kelch; Kelch domain
    PHA03098
    Location:98641
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:385433
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:88194
    BTB; BTB/POZ domain
    pfam01344
    Location:384434
    Kelch_1; Kelch motif
    pfam07707
    Location:202303
    BACK; BTB And C-terminal Kelch
  2. XM_017029950.1XP_016885439.1  kelch-like protein 13 isoform X3

    UniProtKB/Swiss-Prot
    Q9P2N7
    Conserved Domains (2) summary
    PHA03098
    Location:76619
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:363411
    Kelch; KELCH repeat [structural motif]
  3. XM_011531411.1XP_011529713.1  kelch-like protein 13 isoform X2

    See identical proteins and their annotated locations for XP_011529713.1

    UniProtKB/Swiss-Prot
    Q9P2N7
    Conserved Domains (2) summary
    PHA03098
    Location:92635
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:379427
    Kelch; KELCH repeat [structural motif]
  4. XM_011531410.3XP_011529712.1  kelch-like protein 13 isoform X1

    See identical proteins and their annotated locations for XP_011529712.1

    Conserved Domains (6) summary
    smart00612
    Location:449494
    Kelch; Kelch domain
    PHA03098
    Location:98641
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:385433
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:88194
    BTB; BTB/POZ domain
    pfam01344
    Location:384434
    Kelch_1; Kelch motif
    pfam07707
    Location:202303
    BACK; BTB And C-terminal Kelch
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