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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KLHL31 Gene

protein-coding GIFtS: 44
GCID: GC06M053513

kelch-like family member 31

(Previous names: kelch repeat and BTB (POZ) domain containing 1, kelch-like...)
(Previous symbol: KBTBD1)

Search for KLHL31
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Kelch-Like Family Member 31¹ ²		Kelch Repeat And BTB Domain-Containing Protein 1² ³
BKLHD6¹ ² ³		Kelch-Like Protein KLHL² ³
KBTBD1¹ ² ³		BTB And Kelch Domain-Containing Protein 6² ³
KLHL² ³ ⁵		Kelch-Like 31 (Drosophila)¹
BA345L23.2¹		Kelch-Like Protein 31²
Kelch Repeat And BTB (POZ) Domain Containing 1¹ ²

External Ids:	HGNC: 21353¹	Entrez Gene: 401265²	Ensembl: ENSG00000124743⁷	OMIM: 610749⁵	UniProtKB: Q9H511³

Export aliases for KLHL31 gene to outside databases

Previous GC identifers: GC06M053625 GC06M053344

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: KLH31_HUMAN, Q9H511

Function: Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression

inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KLHL31 gene promoter:
MEF-2 CUTL1 Roaz C/EBPalpha MEF-2A RORalpha1 POU2F1 HOXA5 POU2F1a aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL31 promoter sequence

Search SABiosciences Chromatin IP Primers for KLHL31

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL31

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.1 Ensembl cytogenetic band: 6p12.1 HGNC cytogenetic band: 6p12.1

KLHL31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL31 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M053513: view genomic region (about GC identifiers)

Start:	53,512,699 bp from pter	End:	53,530,506 bp from pter
Size:	17,808 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KLH31_HUMAN, Q9H511 (See protein sequence)

Recommended Name: Kelch-like protein 31

Size: 634 amino acids; 70246 Da

Secondary accessions: A6N9J2 B2RP49

Explore the universe of human proteins at neXtProt for KLHL31: NX_Q9H511

Post-translational modifications:

N-terminus is methylated by METTL11A/NTM1 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H511

KLHL31 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001003760.2

ENSEMBL proteins:

ENSP00000384644 ENSP00000359942

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KLHL31 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR017096 Kelch-like_gigaxonin

IPR000210 BTB/POZ-like

IPR006652 Kelch_1

IPR011333 BTB/POZ_fold

IPR015916 Gal_Oxidase_b-propeller

Graphical View of Domain Structure for InterPro Entry Q9H511

ProtoNet protein and cluster: Q9H511

3 Blocks protein families:

IPB000210 BTB/POZ domain

IPB011498 Kelch

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KLH31_HUMAN, Q9H511

Similarity: Contains 1 BACK (BTB/Kelch associated) domain

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 6 Kelch repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KLH31_HUMAN, Q9H511

Function: Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression

inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE)

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1 GenomeRNAi human phenotype for KLHL31:

Increased cell death in DLD-1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KLHL31

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--

KLHL31 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Search CenterWatch for drugs/clinical trials and news about KLHL31 / KLH31

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for KLHL31 gene:

NM_001003760.4

Unigene Cluster for KLHL31:

Kelch-like 31 (Drosophila)

Hs.131064 [show with all ESTs]

Unigene Representative Sequence: NM_001003760

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000407079 ENST00000370905(uc003pcb.4)

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		hsa-miR-3130-5p hsa-miR-4307 hsa-miR-607 hsa-miR-4254 hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-miR-25

		SwitchGear 3'UTR luciferase reporter plasmid: KLHL31 3' UTR sequence

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Additional cDNA sequence:

BC137267.1 BC137269.1 EF633513.1

2 DOTS entries:

DT.40262426 DT.86857662

4 AceView cDNA sequences:

NM_001003760 AW294693 BF824983 R57328

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KLHL31 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAAAAAACC

About this image

KLHL31 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KLHL31 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHL31

SOURCE GeneReport for Unigene cluster: Hs.131064

UniProtKB/Swiss-Prot: KLH31_HUMAN, Q9H511

Tissue specificity: Strongly expressed in skeletal muscle and weakly in heart. According to PubMed:15302408, not

expressed in other tissues. According to PubMed:18719355, abundantly expressed in both embryonic skeletal and heart

tissues

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KLHL31 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KLHL31¹	kelch-like 31 (Drosophila)	77.29(n) 84.54(a)		421893 XM_419909.3 XP_419909.1
lizard (Anolis carolinensis)	Reptilia	KLHL31⁶ --	--	83(a) 64(a)	1 ↔ 1 possible ortholog	1(151344181-151352109) GL343498.1(170741-173027)
zebrafish (Danio rerio)	Actinopterygii	klhl31¹	kelch-like 31 (Drosophila)	69.87(n) 75.71(a)		407079 NM_001003727.2 NP_001003727.1
fruit fly (Drosophila melanogaster)	Insecta	CG1812⁶	--	23(a)	1 → many	X(20382574-20386859)

ENSEMBL Gene Tree for KLHL31 (if available)
TreeFam Gene Tree for KLHL31 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KLHL31 gene

KLHL42² KLHL13² KLHL22² KLHL26² KLHL34² KBTBD13² KBTBD11² KLHL9²

KLHL32² KLHL14² KLHDC7B² KLHL15² KLHL36² KLHL33² KLHDC7A²

12 SIMAP similar genes for KLHL31 using alignment to 1 protein entry: KLH31_HUMAN:

KLHL9 DKFZp686L0695 KLHL13 KLHL26 KLHL36 KLHL17

KLHL28 KLHL15 KLHL22 KLHL32 KLHL14 KLHL18

KLHL31 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73443811^1,2	C,	--	53512300(+)	`TTACTT/CGCTCA`	1	--	ds500¹		2		WA	120
rs115863006^1,2	F,	--	53512320(+)	`GTAAGG/ATAGAA`	1	--	ds500¹		1		NA	120
rs192408496^1,2		--	53512398(+)	`TGATGA/GTGAAC`	1	--	ds500¹		0	--	--	--	--
rs115302109^1,2	F,	--	53512442(+)	`AGGAAG/AAGAAA`	1	--	ds500¹		1		WA	118
rs184859803^1,2		--	53512472(+)	`TCTAAA/GTAGTC`	1	--	ds500¹		0	--	--	--	--
rs4308556^1,2	H	--	53512486(+)	`GCTGAG/TCTAGA`	1	--	ds500¹		4		NS EA	420
rs138819778^1,2		--	53512498(+)	`CAGAGC/TTGGGC`	1	--	ds500¹		0	--	--	--	--
rs142201848^1,2		--	53512621(+)	`TCTAGA/GTGAAT`	1	--	ds500¹		0	--	--	--	--
rs188010815^1,2		--	53512699(+)	`GTCCAC/TATTTA`	1	--	ut3¹		0	--	--	--	--
rs58986531^1,2	C,F,	--	53512724(+)	`TCTTAT/CTGAAT`	1	--	ut3¹		6		WA CSA NA EA	364

HapMap Linkage Disequilibrium report for KLHL31 (53512699 - 53530506 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KLHL31: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KLHL31 for disorders About MalaCards

KLHL31 for disorders About GeneDecksing

OMIM gene information: 610749 OMIM disorders: --

Export disorders for KLHL31 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KLHL31 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KLHL31)

Utopia: connect your pdf to the dynamic
world of online information

A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. (PubMed id 15302408)^{1, 2, 9} Wu Y.L. and Gong Z. (2004)
A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and heart, inhibits transcriptional activities of TRE and SRE. (PubMed id 18719355)^{1, 2} Yu W.... Wu X. (2008)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 401265	HGNC: 21353	AceView: KLHL.1	Ensembl:ENSG00000124743	euGenes: HUgn401265
ECgene: KLHL31	H-InvDB: KLHL31

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KLHL31	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KLHL31 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KLHL31 gene:
Search GeneIP for patents involving KLHL31

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes KLHL31 gene at Home site.

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KLHL31 Gene

kelch-like family member 31

Aliases
for KLHL31 gene

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for KLHL31 gene

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for KLHL31 gene

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for KLHL31 gene

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Families
for KLHL31 gene

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for KLHL31 gene

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External Searches for KLHL31 gene

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Advanced Search

Export list of displayed genes

KLHL31 Gene

kelch-like family member 31

Aliasesfor KLHL31 gene

Summariesfor KLHL31 gene

Genomic Viewsfor KLHL31 gene

Proteinsfor KLHL31 gene

Protein Domains /Familiesfor KLHL31 gene

Functionfor KLHL31 gene

Pathways & Interactionsfor KLHL31 gene

Drugs & Compoundsfor KLHL31 gene

Transcriptsfor KLHL31 gene

Expression for KLHL31 gene

Orthologsfor KLHL31 gene

Paralogsfor KLHL31 gene

Genomic Variantsfor KLHL31 gene

Disorders / Diseasesfor KLHL31 gene

Publicationsfor KLHL31 gene

External Searches for KLHL31 gene

Genome Databases showing KLHL31 gene

Other Databases showing KLHL31 gene

Specialized Databases showing KLHL31 gene

Intellectual Propertyfor KLHL31 gene

Productsfor KLHL31 gene

View Random Gene

Aliases
for KLHL31 gene

Summaries
for KLHL31 gene

Genomic Views
for KLHL31 gene

Proteins
for KLHL31 gene

Protein Domains /
Families
for KLHL31 gene

Function
for KLHL31 gene

Pathways & Interactions
for KLHL31 gene

Drugs & Compounds
for KLHL31 gene

Transcripts
for KLHL31 gene

Expression
for KLHL31 gene

Orthologs
for KLHL31 gene

Paralogs
for KLHL31 gene

Genomic Variants
for KLHL31 gene

Disorders / Diseases
for KLHL31 gene

Publications
for KLHL31 gene

Intellectual Property
for KLHL31 gene

Products
for KLHL31 gene