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UniProtKB - Q53G59 (KLH12_HUMAN)

Entry version 150 (02 Dec 2020)
Sequence version 2 (16 May 2006)
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Protein

Kelch-like protein 12

Gene

KLHL12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508).6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processER-Golgi transport, Transport, Ubl conjugation pathway, Wnt signaling pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q53G59

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-4641258, Degradation of DVL

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kelch-like protein 12
Alternative name(s):
CUL3-interacting protein 11 Publication
DKIR homolog1 Publication
Short name:
hDKIR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KLHL12
Synonyms:C3IP11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000117153.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:19360, KLHL12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614522, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q53G59

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi15H → A: Abolished ubiquitination by the SCF(FBXL17) complex. 1 Publication1
Mutagenesisi34D → A: Abolished ubiquitination by the SCF(FBXL17) complex. 1 Publication1
Mutagenesisi50V → A: Increased recognition and ubiquitination by the SCF(FBXL17) complex. 1 Publication1
Mutagenesisi60A → E or K: Abolished ubiquitination by the SCF(FBXL17) complex. 1 Publication1
Mutagenesisi289 – 290FG → AA: Abolishes interaction with SEC31A and subsequent monoubiquitination of SEC31A. Abolishes ubiquitination of PEF1. 2 Publications2

Organism-specific databases

DisGeNET

More...DisGeNETi		59349

Open Targets

More...OpenTargetsi		ENSG00000117153

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134952416

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q53G59, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KLHL12

Domain mapping of disease mutations (DMDM)

More...DMDMi		97054498

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002343491 – 568Kelch-like protein 12Add BLAST568

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteaseome: ubiquitination by the SCF(FBXL17) complex takes place when aberrant BTB domain dimers are formed.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q53G59

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q53G59

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q53G59

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q53G59

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q53G59

PeptideAtlas

More...PeptideAtlasi		Q53G59

PRoteomics IDEntifications database

More...PRIDEi		Q53G59

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		62474 [Q53G59-1]
62475 [Q53G59-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q53G59

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q53G59

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q53G59

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000117153, Expressed in oocyte and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q53G59, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q53G59, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000117153, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the BCR(KLHL12) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL12 and RBX1 (PubMed:22358839). This complex interacts with DVL3 upon activation of the Wnt signaling pathway by WNT3A (PubMed:16547521).

Interacts with DRD4, KLHL2 and SEC31A (PubMed:15383316,PubMed:18303015, PubMed:22358839).

Interacts with PEF1 and PDCD6/ALG-2; interaction takes place in response to cytosolic calcium increase and leads to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B) (PubMed:27716508).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q53G59
With#Exp.IntAct
ARRDC1 [Q8N5I2]3EBI-740929,EBI-2339564
ATXN1 [P54253]2EBI-740929,EBI-930964
BAG6 [P46379]4EBI-740929,EBI-347552
BAG6 - isoform 2 [P46379-2]3EBI-740929,EBI-10988864
BCL6 [P41182]3EBI-740929,EBI-765407
C1QTNF2 [Q9BXJ5]6EBI-740929,EBI-2817707
CARD10 [Q17RA1]3EBI-740929,EBI-10238571
CCBE1 [Q6UXH8]3EBI-740929,EBI-3923278
CCBE1 - isoform 3 [Q6UXH8-3]3EBI-740929,EBI-12013534
COL3A1 - isoform 2 [P02461-2]3EBI-740929,EBI-12214501
CUL3 [Q13618]12EBI-740929,EBI-456129
DVL1 [Q86TH3]3EBI-740929,EBI-10185025
DVL3 [Q92997]4EBI-740929,EBI-739789
FAM90A1 [Q86YD7]3EBI-740929,EBI-6658203
FGD2 [Q7Z6J4]3EBI-740929,EBI-1057190
FLNA - isoform 2 [P21333-2]6EBI-740929,EBI-9641086
GLYCTK [Q8IVS8]3EBI-740929,EBI-748515
hCG_1987119 [A0A024R8L2]3EBI-740929,EBI-14103818
INMT [O95050]6EBI-740929,EBI-10191038
itself7EBI-740929,EBI-740929
KLHL2 [O95198]5EBI-740929,EBI-746999
KLHL24 [Q6TFL4]3EBI-740929,EBI-2510117
KLHL3 [Q8N4I8]3EBI-740929,EBI-10230467
KLHL3 [Q9UH77]3EBI-740929,EBI-8524663
LNPK - isoform 2 [Q9C0E8-2]6EBI-740929,EBI-11024283
LNX1 [Q8TBB1]4EBI-740929,EBI-739832
MAPRE1 [Q15691]3EBI-740929,EBI-1004115
MED25 [Q71SY5]3EBI-740929,EBI-394558
MPP1 [Q00013]6EBI-740929,EBI-711788
MRPL10 [Q7Z7H8]3EBI-740929,EBI-723524
NTAQ1 [Q96HA8]8EBI-740929,EBI-741158
PDGFRB [P09619]6EBI-740929,EBI-641237
PEF1 [Q9UBV8]8EBI-740929,EBI-724639
PLEKHA4 - isoform 2 [Q9H4M7-2]3EBI-740929,EBI-12394782
PNKP [Q96T60]3EBI-740929,EBI-1045072
POLD1 [P28340]3EBI-740929,EBI-716569
PRR13 [Q9NZ81]7EBI-740929,EBI-740924
RGL3 [Q3MIN7]3EBI-740929,EBI-2856274
RIN1 [Q13671]3EBI-740929,EBI-366017
RNF4 [P78317]3EBI-740929,EBI-2340927
RPP25L [Q8N5L8]6EBI-740929,EBI-10189722
SDCBP [O00560]8EBI-740929,EBI-727004
SNX20 [Q7Z614]4EBI-740929,EBI-744896
SNX20 - isoform 3 [Q7Z614-3]3EBI-740929,EBI-12336127
SYNE4 [Q8N205]3EBI-740929,EBI-7131783
TBC1D10C [Q8IV04]6EBI-740929,EBI-10261452
TCEANC - isoform 2 [Q8N8B7-2]3EBI-740929,EBI-11955057
TTBK2 [Q6IQ55]6EBI-740929,EBI-1050303
UBE2I [Q7KZS0]6EBI-740929,EBI-10180829
VEGFB [P49765]3EBI-740929,EBI-2799898
VEGFB [Q7LAP4]3EBI-740929,EBI-10256629
ZBP1 [A2RRL9]3EBI-740929,EBI-10173066
ZBTB4 [Q9P1Z0]3EBI-740929,EBI-2564133

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121890, 101 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q53G59

Protein interaction database and analysis system

More...IntActi		Q53G59, 83 interactors

Molecular INTeraction database

More...MINTi		Q53G59

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356230

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q53G59, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1568
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q53G59

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q53G59

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini33 – 100BTBPROSITE-ProRule annotationAdd BLAST68
Domaini135 – 236BACKAdd BLAST102
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati282 – 329Kelch 1Add BLAST48
Repeati331 – 379Kelch 2Add BLAST49
Repeati380 – 426Kelch 3Add BLAST47
Repeati427 – 473Kelch 4Add BLAST47
Repeati475 – 520Kelch 5Add BLAST46
Repeati522 – 567Kelch 6Add BLAST46

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni405 – 568Interaction with DVL31 PublicationAdd BLAST164

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The BTB domain is required for interaction with CUL3.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4441, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155199

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004253_14_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q53G59

Identification of Orthologs from Complete Genome Data

More...OMAi		LGTQRCD

Database of Orthologous Groups

More...OrthoDBi		709680at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q53G59

TreeFam database of animal gene trees

More...TreeFami		TF329218

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011705, BACK
IPR017096, BTB-kelch_protein
IPR000210, BTB/POZ_dom
IPR015915, Kelch-typ_b-propeller
IPR006652, Kelch_1
IPR011333, SKP1/BTB/POZ_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07707, BACK, 1 hit
PF00651, BTB, 1 hit
PF01344, Kelch_1, 6 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037037, Kelch-like_protein_gigaxonin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00875, BACK, 1 hit
SM00225, BTB, 1 hit
SM00612, Kelch, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF117281, SSF117281, 1 hit
SSF54695, SSF54695, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50097, BTB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q53G59-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGGIMAPKDI MTNTHAKSIL NSMNSLRKSN TLCDVTLRVE QKDFPAHRIV 
        60         70         80         90        100
LAACSDYFCA MFTSELSEKG KPYVDIQGLT ASTMEILLDF VYTETVHVTV 
       110        120        130        140        150
ENVQELLPAA CLLQLKGVKQ ACCEFLESQL DPSNCLGIRD FAETHNCVDL 
       160        170        180        190        200
MQAAEVFSQK HFPEVVQHEE FILLSQGEVE KLIKCDEIQV DSEEPVFEAV 
       210        220        230        240        250
INWVKHAKKE REESLPNLLQ YVRMPLLTPR YITDVIDAEP FIRCSLQCRD 
       260        270        280        290        300
LVDEAKKFHL RPELRSQMQG PRTRARLGAN EVLLVVGGFG SQQSPIDVVE 
       310        320        330        340        350
KYDPKTQEWS FLPSITRKRR YVASVSLHDR IYVIGGYDGR SRLSSVECLD 
       360        370        380        390        400
YTADEDGVWY SVAPMNVRRG LAGATTLGDM IYVSGGFDGS RRHTSMERYD 
       410        420        430        440        450
PNIDQWSMLG DMQTAREGAG LVVASGVIYC LGGYDGLNIL NSVEKYDPHT 
       460        470        480        490        500
GHWTNVTPMA TKRSGAGVAL LNDHIYVVGG FDGTAHLSSV EAYNIRTDSW 
       510        520        530        540        550
TTVTSMTTPR CYVGATVLRG RLYAIAGYDG NSLLSSIECY DPIIDSWEVV 
       560 
TSMGTQRCDA GVCVLREK
Length:568
Mass (Da):63,277
Last modified:May 16, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4EB1BC33B6351B5D
GO
Isoform 2 (identifier: Q53G59-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDVNKFEASVGFLDVKKFLSTWKLQNPRTHFVLSPHCFM

Show »
Length:606
Mass (Da):67,727
Checksum:i47F91BE5B8ED7C33
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QSX3J3QSX3_HUMAN
Kelch-like protein 12
KLHL12
315Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q9H7R2Q9H7R2_HUMAN
Kelch-like protein 12
KLHL12
204Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti122C → R in BAD96792 (Ref. 3) Curated1
Sequence conflicti197 – 198FE → LG in BAD96792 (Ref. 3) Curated2
Sequence conflicti394T → A in BAD96792 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05004972P → L. Corresponds to variant dbSNP:rs12569087Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0429751M → MDVNKFEASVGFLDVKKFLS TWKLQNPRTHFVLSPHCFM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF190900 mRNA Translation: AAG17175.1
AK027656 mRNA Translation: BAB55271.1
AK301791 mRNA Translation: BAH13554.1
AK223072 mRNA Translation: BAD96792.1
AC096632 Genomic DNA No translation available.
BC003183 mRNA Translation: AAH03183.1
BC004175 mRNA Translation: AAH04175.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1429.1 [Q53G59-1]

NCBI Reference Sequences

More...RefSeqi		NP_001289980.1, NM_001303051.1 [Q53G59-2]
NP_001290038.1, NM_001303109.1
NP_067646.1, NM_021633.3 [Q53G59-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000367261; ENSP00000356230; ENSG00000117153 [Q53G59-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		59349

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:59349

UCSC genome browser

More...UCSCi		uc001gyo.2, human [Q53G59-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF190900 mRNA Translation: AAG17175.1
AK027656 mRNA Translation: BAB55271.1
AK301791 mRNA Translation: BAH13554.1
AK223072 mRNA Translation: BAD96792.1
AC096632 Genomic DNA No translation available.
BC003183 mRNA Translation: AAH03183.1
BC004175 mRNA Translation: AAH04175.1
CCDSiCCDS1429.1 [Q53G59-1]
RefSeqiNP_001289980.1, NM_001303051.1 [Q53G59-2]
NP_001290038.1, NM_001303109.1
NP_067646.1, NM_021633.3 [Q53G59-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VPJX-ray1.85A268-567[»]
6TTKX-ray2.38A/B/C/D268-567[»]
6V7OX-ray2.90A/B268-567[»]
SMRiQ53G59
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121890, 101 interactors
CORUMiQ53G59
IntActiQ53G59, 83 interactors
MINTiQ53G59
STRINGi9606.ENSP00000356230

PTM databases

iPTMnetiQ53G59
MetOSiteiQ53G59
PhosphoSitePlusiQ53G59

Polymorphism and mutation databases

BioMutaiKLHL12
DMDMi97054498

Proteomic databases

EPDiQ53G59
jPOSTiQ53G59
MassIVEiQ53G59
MaxQBiQ53G59
PaxDbiQ53G59
PeptideAtlasiQ53G59
PRIDEiQ53G59
ProteomicsDBi62474 [Q53G59-1]
62475 [Q53G59-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34533, 315 antibodies

The DNASU plasmid repository

More...DNASUi		59349

Genome annotation databases

EnsembliENST00000367261; ENSP00000356230; ENSG00000117153 [Q53G59-1]
GeneIDi59349
KEGGihsa:59349
UCSCiuc001gyo.2, human [Q53G59-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		59349
DisGeNETi59349
EuPathDBiHostDB:ENSG00000117153.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		KLHL12
HGNCiHGNC:19360, KLHL12
HPAiENSG00000117153, Low tissue specificity
MIMi614522, gene
neXtProtiNX_Q53G59
OpenTargetsiENSG00000117153
PharmGKBiPA134952416

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4441, Eukaryota
GeneTreeiENSGT00940000155199
HOGENOMiCLU_004253_14_2_1
InParanoidiQ53G59
OMAiLGTQRCD
OrthoDBi709680at2759
PhylomeDBiQ53G59
TreeFamiTF329218

Enzyme and pathway databases

UniPathwayiUPA00143
PathwayCommonsiQ53G59
ReactomeiR-HSA-4641258, Degradation of DVL

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		59349, 12 hits in 845 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KLHL12, human
EvolutionaryTraceiQ53G59

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KLHL12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		59349
PharosiQ53G59, Tbio

Protein Ontology

More...PROi		PR:Q53G59
RNActiQ53G59, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117153, Expressed in oocyte and 211 other tissues
ExpressionAtlasiQ53G59, baseline and differential
GenevisibleiQ53G59, HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705, BACK
IPR017096, BTB-kelch_protein
IPR000210, BTB/POZ_dom
IPR015915, Kelch-typ_b-propeller
IPR006652, Kelch_1
IPR011333, SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF07707, BACK, 1 hit
PF00651, BTB, 1 hit
PF01344, Kelch_1, 6 hits
PIRSFiPIRSF037037, Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875, BACK, 1 hit
SM00225, BTB, 1 hit
SM00612, Kelch, 6 hits
SUPFAMiSSF117281, SSF117281, 1 hit
SSF54695, SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097, BTB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKLH12_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q53G59
Secondary accession number(s): A6NEN8, B7Z7B8, Q9HBX5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: December 2, 2020
This is version 150 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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