KHDC1 Gene
protein-coding GIFtS: 39
GCID: GC06M073951
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|
KH homology domain containing 1(Previous name: chromosome 6 open reading frame 148 )
(Previous symbol: C6orf148)
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Aliases
for KHDC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| KH Homology Domain Containing 11 2 | | MGC108181 | | C6orf1481 2 3 | | Chromosome 6 Open Reading Frame 1481 | | NDG11 2 | | KH Homology Domain-Containing Protein 12 | | BA257K9.41 | | |
| External Ids: | HGNC: 213661 | Entrez Gene: 807592 | Ensembl: ENSG000001353147 | OMIM: 6116885 | UniProtKB: Q4VXA53 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n407550 | |
Export aliases for KHDC1 gene to outside databasesPrevious GC identifers: GC06M073977 GC06M073918 GC06M071149
Summaries
for KHDC1 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 KHDC1 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_000006.11 NC_018917.1 NT_007299.13
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for KHDC1
Other transcription factors
Search SABiosciences Chromatin IP Primers for KHDC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KHDC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q13 Ensembl cytogenetic band: 6q13 HGNC cytogenetic band: 6q13KHDC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M073951: view genomic region
(about GC identifiers)
Start:
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73,951,037 bp from pter |
End:
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74,020,088 bp from pter |
Size:
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69,052 bases |
Orientation:
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minus strand |
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Proteins
for KHDC1 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: KHDC1_HUMAN, Q4VXA5 (See
protein sequence)Recommended Name: KH homology domain-containing protein 1 Size: 237 amino acids; 27160 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAB70824.1; Type=Miscellaneous discrepancy; Note=Cloning artifact;
Secondary accessions: Q5JSQ7 Q8WTV2 Q96NQ5Alternative splicing: 2 isoforms: Q4VXA5-1 Q4VXA5-2 Explore the universe of human proteins at neXtProt for KHDC1: NX_Q4VXA5
KHDC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001238803.1 NP_085045.3
ENSEMBL proteins: ENSP00000257765 ENSP00000359411 ENSP00000406966
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:0016021 | integral to membrane |
IEA | -- |
KHDC1 for ontologies About GeneDecksing
KHDC1 Antibody Products:
Assay Products for KHDC1: |
Protein
Domains /
Families
for KHDC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q4VXA5 UniProtKB/Swiss-Prot: KHDC1_HUMAN, Q4VXA5Similarity: Belongs to the KHDC1 familySimilarity: Contains 1 KH domain |
Function
for KHDC1 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 KHDC1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KHDC1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KHDC1 (NM_030568) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KHDC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KHDC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHDC1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003723 | RNA binding |
IEA | -- |
KHDC1 for ontologies About GeneDecksing
|
Pathways & Interactions
for KHDC1 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 KHDC1
|
Drugs & Compounds
for KHDC1 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 KHDC1
Search CenterWatch for drugs/clinical trials and news about KHDC1
|
Transcripts
for KHDC1 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 KHDC1 gene (2 alternative transcripts): NM_001251874.1 NM_030568.3 Unigene Cluster for KHDC1: KH homology domain containing 1 Hs.433062 [show with all ESTs]Unigene Representative Sequence: NM_0012518745 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000257765(uc003pgn.4) ENST00000370384(uc003pgo.3) ENST00000433730
ENST00000484801(uc011dym.1) ENST00000474593
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KHDC1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KHDC1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KHDC1 (NM_030568) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KHDC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KHDC1 |
Additional cDNA sequence: BC022080.2 5 DOTS entries: DT.108542 DT.91866304 DT.97790721 DT.95147714 DT.75192338 11 AceView cDNA sequences: AI205972 BE220382 BX098001 BC004267 AW444571 AK054891 NM_030568 AW051135 BC022080 AI356768 AA687910
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for KHDC1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b |
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| SP1: | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KHDC1
|
Expression
for KHDC1 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
| KHDC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTGAGGGAA
About this image
See KHDC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KHDC1
SOURCE GeneReport for Unigene cluster: Hs.433062
SABiosciences Custom PCR Arrays for KHDC1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KHDC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KHDC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KHDC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KHDC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHDC1 |
Orthologs
for KHDC1 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 human and mouse.
Orthologs for KHDC1 gene from 1/4 species (see all 4) About this table
ENSEMBL Gene Tree for KHDC1 (if available)
TreeFam Gene Tree for KHDC1 (if available) |
Paralogs
for KHDC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KHDC1 gene
- KHDC1L2
1 SIMAP similar gene for KHDC1 using alignment to 2 protein entries: KHDC1_HUMAN (see all proteins):KHDC1L
KHDC1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for KHDC1
PGOHUM00000263154
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Genomic Variants
for KHDC1 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 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KHDC1 (73951037 - 74020088 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KHDC1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KHDC1 |
|
Disorders
/ Diseases
for KHDC1 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
|
 KHDC1 for disorders About MalaCards
KHDC1 for disorders About GeneDecksing
OMIM gene information: 611688
OMIM disorders: --
Export disorders for KHDC1 gene to outside databases
|
Publications
for KHDC1 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 KHDC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KHDC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Atypical structure and phylogenomic evolution of the new eutherian oocyte-and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family. (PubMed id 17913455)1, 2, 3 Pierre A.... Monget P. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
- 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)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
|
External Searches for KHDC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KHDC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KHDC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KHDC1 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 KHDC1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KHDC1 gene:
Search GeneIP for patents involving KHDC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KHDC1 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 | | OriGene shRNA RFP for KHDC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KHDC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KHDC1 | | | OriGene Protein Over-expression Lysate for KHDC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KHDC1 | | OriGene 3'-UTR Clone for KHDC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KHDC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KHDC1 | | | 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 | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KHDC1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KHDC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KHDC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KHDC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KHDC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KHDC1 |
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 |  |  |  | |
| | | | Search Tocris compounds for KHDC1 |
| |  |  |  |  | | | | |
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 |
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 | | | KHDC1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHDC1 |
|  |  |  | | | | Search ThermoFisher Antibodies for KHDC1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KHDC1 |
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