KLHDC1 Gene
protein-coding GIFtS: 43
GCID: GC14P050159
|
|
kelch domain containing 1
| |
Aliases
for KLHDC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kelch Domain Containing 11 2 | | MST0251 2 | | Kelch Domain-Containing Protein 12 |
Export aliases for KLHDC1 gene to outside databasesPrevious GC identifers: GC14P043955 GC14P048149 GC14P049229 GC14P030277 |
Summaries
for KLHDC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for KLHDC1 gene
(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_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KLHDC1 gene promoter:
HOXA9 HOXA9B Lmo2 AP-4 CUTL1 Meis-1b CREB deltaCREB Zic3 Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for KLHDC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHDC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q21.3 Ensembl cytogenetic band: 14q21.3 HGNC cytogenetic band: 14q21.3KLHDC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P050159: view genomic region
(about GC identifiers)
Start:
|
50,159,823 bp from pter |
End:
|
50,219,870 bp from pter |
Size:
|
60,048 bases |
Orientation:
|
plus strand |
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Proteins
for KLHDC1 gene
(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: KLDC1_HUMAN, Q8N7A1 (See
protein sequence)Recommended Name: Kelch domain-containing protein 1 Size: 406 amino acids; 46720 Da
Subcellular location: Cytoplasm
Secondary accessions: B3KXD9 Q8WYI1Explore the universe of human proteins at neXtProt for KLHDC1: NX_Q8N7A1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N7A1
KLHDC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_751943.1
ENSEMBL proteins: ENSP00000450595 ENSP00000451819 ENSP00000352282 ENSP00000452543 ENSP00000451407
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IDA | -- |
KLHDC1 for ontologies About GeneDecksing
KLHDC1 Antibody Products:
Assay Products for KLHDC1: |
Protein
Domains /
Families
for KLHDC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KLHDC1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N7A1ProtoNet protein and cluster: Q8N7A1 UniProtKB/Swiss-Prot: KLDC1_HUMAN, Q8N7A1Similarity: Contains 6 Kelch repeats |
Function
for KLHDC1 gene
(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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for KLHDC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC1 |
|
Pathways & Interactions
for KLHDC1 gene
(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 CentralTM Interacting Genes and Proteins Networks for KLHDC1
|
Drugs & Compounds
for KLHDC1 gene(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 Tocris compounds for KLHDC1
Search CenterWatch for drugs/clinical trials and news about KLHDC1 / KLDC1
|
Transcripts
for KLHDC1 gene(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,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KLHDC1 gene: NM_172193.2 Unigene Cluster for KLHDC1: Kelch domain containing 1 Hs.509258 [show with all ESTs]Unigene Representative Sequence: NM_1721936 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000556392 ENST00000555704 ENST00000359332(uc001www.3 uc010tqg.2 uc010tqh.2)
ENST00000553274 ENST00000557128 ENST00000554512
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KLHDC1 (NM_014997) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHDC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC1 |
Additional cDNA sequence: AF111806.1 AK127202.1 AL833437.1 BC031270.1 BC101595.1 BC101597.1 BC143596.1 BC143597.1 4 DOTS entries: DT.75128110 DT.100017465 DT.91676299 DT.95100778 24/27 AceView cDNA sequences (see all 27): NM_172193 AF111806 AK127202 CK822677 BC031270 BI599950 CB958796 AL833437 N47757 BE465891 CD236987 BI597206 BM509918 CK822678 BM503769 BE465875 BX953504 CA942537 AW873321 AL702200 AI624804 AV721319 AI703423 BI602051
GeneLoc Exon Structure
|
Expression
for KLHDC1 gene
(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
| KLHDC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGTTATCT
About this image
See KLHDC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHDC1
SOURCE GeneReport for Unigene cluster: Hs.509258
UniProtKB/Swiss-Prot: KLDC1_HUMAN, Q8N7A1Tissue specificity: Widely expressed, with high levels in skeletal muscle, pancreas and liver. Undetectable inperipheral blood leukocytes
SABiosciences Custom PCR Arrays for KLHDC1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLHDC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLHDC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHDC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHDC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC1 |
Orthologs
for KLHDC1 gene
(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 eukaryotes.
Orthologs for KLHDC1 gene from 4/16 species (see all 16) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
KLHDC11 |
kelch domain containing 1 |
79.43(n)
83.63(a) |
|
423568 XM_421458.3 XP_421458.1 |
lizard
(Anolis carolinensis) |
Reptilia |
KLHDC16 |
-- |
74(a) |
1 ↔ 1 |
GL343560.1(81729-97064) |
zebrafish
(Danio rerio) |
Actinopterygii |
CABZ01073071.16CU856539.46 |
-- |
38(a)10(a) |
1 ↔ 1possible ortholog |
17(11832-28673) 10(2555837-2577043) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G741506AT1G186106 |
kelch motif-containing proteingalactose oxidase/kelch repeat domain-containing p... |
8(a)8(a) |
possible orthologpossible ortholog |
1(27880528-27883626) 1(6405645-6409297) |
ENSEMBL Gene Tree for KLHDC1 (if available)
TreeFam Gene Tree for KLHDC1 (if available) |
Paralogs
for KLHDC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KLHDC1 gene
- KLHDC22 HCFC12 KLHDC32 LZTR12 RABEPK2 KLHDC102 HCFC22
18/44 SIMAP similar genes for KLHDC1 using alignment to 5 protein entries: KLDC1_HUMAN (see all proteins)
(see all similar genes):COX7A2 IFT122 ZNF568 CCL16 CCPG1 SCIMP
CES4A FAM3A LRTOMT NSRP1 THADA MTA3
ZNHIT3 LGALS3 TMEM67 ZNF23 SUN3 ATL2
KLHDC1 for paralogs About GeneDecksing
|
Genomic Variants
for KLHDC1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KLHDC1 (50159823 - 50219870 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KLHDC1
1 CNV: 66642
1 Indel: 101951 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLHDC1 |
|
Disorders
/ Diseases
for KLHDC1 gene
(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
|
 KLHDC1 for disorders About MalaCards
KLHDC1 for disorders About GeneDecksing
OMIM gene information: 611281
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: KLHDC1 (1 document)
Export disorders for KLHDC1 gene to outside databases
|
Publications
for KLHDC1 gene (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 KLHDC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KLHDC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. (PubMed id 16964437)1, 2 Chin K.-T.... Jin D.-Y. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Genome-wide searching of rare genetic variants in WTC CC data. (PubMed id 20549515)1 Feng T. and Zhu X. (2010)
- CCR4 and CCR10 ligands play additive roles in mouse c ontact hypersensitivity. (PubMed id 18095942)1 Mirshahpanah P....Zollner T.M. (2008)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- 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)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
|
External Searches for KLHDC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KLHDC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KLHDC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KLHDC1 gene(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 KLHDC1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KLHDC1 gene:
Search GeneIP for patents involving KLHDC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KLHDC1 gene(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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHDC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLHDC1 | | | OriGene Protein Over-expression Lysate for KLHDC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for KLHDC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for KLHDC1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |  |  |  |  | | | | |
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 | | | KLHDC1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC1 |
|  |  |  | | | | ThermoFisher Antibodies for KLHDC1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC1 |
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