Format

Send to:

Choose Destination

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

Gene ID: 90293, updated on 8-May-2016
Official Symbol
KLHL13provided by HGNC
Official Full Name
kelch like family member 13provided by HGNC
Primary source
HGNC:HGNC:22931
See related
Ensembl:ENSG00000003096 HPRD:06461; MIM:300655; Vega:OTTHUMG00000022252
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]
Orthologs
Location:
Xq23-q24
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein L12 pseudogene 43 Neighboring gene WD repeat domain 44 Neighboring gene microRNA 1277

NHGRI GWAS Catalog

Description
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA Catalog
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora B signaling, organism-specific biosystem
    Aurora B signaling
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10262, MGC74791

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
midbody IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
kelch-like protein 13
Names
BTB and kelch domain containing 2
kelch-like 13
kelch-like family member 13

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
    Q96HC9
    Related
    ENSP00000443191, ENST00000539496
    Conserved Domains (6) summary
    smart00612
    Location:446491
    Kelch; Kelch domain
    PHA03098
    Location:95638
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:85191
    BTB; BTB/POZ domain
    pfam01344
    Location:381431
    Kelch_1; Kelch motif
    cd14735
    Location:194252
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    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 (6) summary
    smart00612
    Location:437482
    Kelch; Kelch domain
    PHA03098
    Location:86629
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:76182
    BTB; BTB/POZ domain
    pfam01344
    Location:372422
    Kelch_1; Kelch motif
    cd14735
    Location:185243
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    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, ENST00000541812
    Conserved Domains (6) summary
    smart00612
    Location:427472
    Kelch; Kelch domain
    PHA03098
    Location:76619
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:66172
    BTB; BTB/POZ domain
    pfam01344
    Location:362412
    Kelch_1; Kelch motif
    cd14735
    Location:175233
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    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, ENST00000540167
    Conserved Domains (6) summary
    smart00612
    Location:427472
    Kelch; Kelch domain
    PHA03098
    Location:76619
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:66172
    BTB; BTB/POZ domain
    pfam01344
    Location:362412
    Kelch_1; Kelch motif
    cd14735
    Location:175233
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    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, ENST00000545703
    Conserved Domains (6) summary
    smart00612
    Location:401446
    Kelch; Kelch domain
    PHA03098
    Location:50593
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:40146
    BTB; BTB/POZ domain
    pfam01344
    Location:336386
    Kelch_1; Kelch motif
    cd14735
    Location:149207
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:337385
    Kelch; KELCH repeat [structural motif]
  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, ENST00000262820
    Conserved Domains (6) summary
    smart00612
    Location:443488
    Kelch; Kelch domain
    PHA03098
    Location:92635
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:82188
    BTB; BTB/POZ domain
    pfam01344
    Location:378428
    Kelch_1; Kelch motif
    cd14735
    Location:191249
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:379427
    Kelch; KELCH repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011531410.1XP_011529712.1  

    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
    pfam00651
    Location:88194
    BTB; BTB/POZ domain
    pfam01344
    Location:384434
    Kelch_1; Kelch motif
    cd14735
    Location:197255
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:385433
    Kelch; KELCH repeat [structural motif]
  2. XM_011531409.1XP_011529711.1  

    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
    pfam00651
    Location:88194
    BTB; BTB/POZ domain
    pfam01344
    Location:384434
    Kelch_1; Kelch motif
    cd14735
    Location:197255
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:385433
    Kelch; KELCH repeat [structural motif]
  3. XM_011531411.1XP_011529713.1  

    See identical proteins and their annotated locations for XP_011529713.1

    UniProtKB/Swiss-Prot
    Q9P2N7
    Conserved Domains (6) summary
    smart00612
    Location:443488
    Kelch; Kelch domain
    PHA03098
    Location:92635
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:82188
    BTB; BTB/POZ domain
    pfam01344
    Location:378428
    Kelch_1; Kelch motif
    cd14735
    Location:191249
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:379427
    Kelch; KELCH repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    116942701..117162205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)