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Aliases for KHDC1 Gene

Aliases for KHDC1 Gene

  • KH Homology Domain Containing 1 2 3 5
  • C6orf148 3 4
  • KH Homology Domain-Containing Protein 1 3
  • Chromosome 6 Open Reading Frame 148 2
  • Chromosome 6 Open Reading Frame 147 2
  • Em:AC019205.8 3
  • BA257K9.4 3
  • C6orf147 3
  • NDG1 3

External Ids for KHDC1 Gene

Previous HGNC Symbols for KHDC1 Gene

  • C6orf148
  • C6orf147

Previous GeneCards Identifiers for KHDC1 Gene

  • GC06M073977
  • GC06M073918
  • GC06M071149
  • GC06M073951

Summaries for KHDC1 Gene

GeneCards Summary for KHDC1 Gene

KHDC1 (KH Homology Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include RNA binding. An important paralog of this gene is KHDC1L.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDC1 Gene

Genomics for KHDC1 Gene

Regulatory Elements for KHDC1 Gene

Enhancers for KHDC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F073460 1.1 ENCODE 12.1 -151.5 -151470 2.5 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF263 SP3 SLC17A5 EIF3EP1 KHDC1 DDX43 OOEP RPL39P3 MTO1 RNU6-975P
GH06F072949 1 Ensembl ENCODE 12.1 +359.8 359834 1.5 ZFP64 JUN ZNF140 BRCA1 ZNF101 GATA3 FOS MAFK BHLHE40 ZBTB11 KHDC1 EIF3EP1 MIR4282 GC06M072905
GH06F073234 0.7 ENCODE 12.5 +74.7 74691 2.4 ZNF146 JUN BHLHE40 CEBPB MAX ZBTB40 EP300 JUND MAFF SCRT2 ENSG00000229852 ENSG00000243501 KHDC1 DPPA5 KHDC3L GC06P073237 KHDC1L
GH06F073967 0.7 ENCODE 12 -658.4 -658387 2.1 ZFP64 ZNF140 ZNF101 ZNF316 ZNF202 ZNF654 ZNF680 ZBTB11 REST ZBTB8A KHDC1 DDX43 OOEP EIF3EP1 ENSG00000279790 GC06M073893
GH06F072913 0.6 ENCODE 12.1 +396.3 396286 1.7 ARID1B ZNF121 NCOR1 TAL1 ZEB2 ZNF518A ZNF781 KHDC1 EIF3EP1 GC06M072905 GC06P072687
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KHDC1 on UCSC Golden Path with GeneCards custom track

Promoters for KHDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001220360 565 2400 ATF1 PKNOX1 CREB3L1 FEZF1 BRCA1 ZNF2 ZNF121 GLIS2 ZNF143 SP3

Genomic Location for KHDC1 Gene

73,241,314 bp from pter
73,310,365 bp from pter
69,052 bases
Minus strand

Genomic View for KHDC1 Gene

Genes around KHDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDC1 Gene

Proteins for KHDC1 Gene

  • Protein details for KHDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    KH homology domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q5JSQ7
    • Q8WTV2
    • Q96NQ5

    Protein attributes for KHDC1 Gene

    237 amino acids
    Molecular mass:
    27160 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB70824.1; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for KHDC1 Gene


neXtProt entry for KHDC1 Gene

Post-translational modifications for KHDC1 Gene

No Post-translational modifications

Other Protein References for KHDC1 Gene

No data available for DME Specific Peptides for KHDC1 Gene

Domains & Families for KHDC1 Gene

Protein Domains for KHDC1 Gene


Suggested Antigen Peptide Sequences for KHDC1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 KH domain.
  • Belongs to the KHDC1 family.
  • Contains 1 KH domain.
  • Belongs to the KHDC1 family.
genes like me logo Genes that share domains with KHDC1: view

No data available for Gene Families for KHDC1 Gene

Function for KHDC1 Gene

Gene Ontology (GO) - Molecular Function for KHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with KHDC1: view
genes like me logo Genes that share phenotypes with KHDC1: view

Animal Model Products

miRNA for KHDC1 Gene

miRTarBase miRNAs that target KHDC1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KHDC1 Gene

Localization for KHDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDC1 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for KHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KHDC1: view

No data available for Subcellular locations from COMPARTMENTS for KHDC1 Gene

Pathways & Interactions for KHDC1 Gene

SuperPathways for KHDC1 Gene

No Data Available

Interacting Proteins for KHDC1 Gene

Gene Ontology (GO) - Biological Process for KHDC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for KHDC1 Gene

Transcripts for KHDC1 Gene

mRNA/cDNA for KHDC1 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KHDC1 Gene

KH homology domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KHDC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: -
SP2: -

Relevant External Links for KHDC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KHDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KHDC1 Gene

Protein differential expression in normal tissues from HIPED for KHDC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KHDC1 Gene

Protein tissue co-expression partners for KHDC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KHDC1 Gene:


SOURCE GeneReport for Unigene cluster for KHDC1 Gene:

genes like me logo Genes that share expression patterns with KHDC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KHDC1 Gene

Orthologs for KHDC1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for KHDC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KHDC1 34
  • 99.42 (n)
(Mus musculus)
Mammalia Khdc1b 35
  • 51 (a)
Khdc1c 35
  • 41 (a)
Khdc1a 35
  • 40 (a)
Species where no ortholog for KHDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KHDC1 Gene

Gene Tree for KHDC1 (if available)
Gene Tree for KHDC1 (if available)

Paralogs for KHDC1 Gene

Paralogs for KHDC1 Gene

(1) SIMAP similar genes for KHDC1 Gene using alignment to 2 proteins: Pseudogenes for KHDC1 Gene

genes like me logo Genes that share paralogs with KHDC1: view

Variants for KHDC1 Gene

Sequence variations from dbSNP and Humsavar for KHDC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10455091 -- 73,281,300(+) tgcca(C/T)ggcac intron-variant
rs10455092 -- 73,291,341(+) GAAAA(A/C)ACGAA intron-variant
rs10455272 -- 73,291,483(+) AAATT(A/C)TCCAC intron-variant
rs10455273 -- 73,295,350(+) ctctt(G/T)tcatt intron-variant
rs10455274 -- 73,297,981(+) ACTCC(A/G)GGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KHDC1 Gene

Variant ID Type Subtype PubMed ID
nsv970143 CNV duplication 23825009
nsv970143 CNV duplication 23825009
nsv518874 CNV loss 19592680
nsv518874 CNV loss 19592680
nsv476815 CNV novel sequence insertion 20440878
nsv1129761 CNV tandem duplication 24896259
nsv1129761 CNV tandem duplication 24896259
nsv1128259 CNV deletion 24896259
nsv1030079 CNV gain 25217958
nsv1030079 CNV gain 25217958
esv3609503 CNV loss 21293372
esv3609503 CNV loss 21293372
esv3609502 CNV loss 21293372
esv3539970 CNV deletion 23714750
esv2732289 CNV deletion 23290073
esv2732288 CNV deletion 23290073
esv2732286 CNV deletion 23290073
esv2675268 CNV deletion 23128226
esv1179852 CNV insertion 17803354
esv1179852 CNV insertion 17803354

Variation tolerance for KHDC1 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KHDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHDC1 Gene

Disorders for KHDC1 Gene

Relevant External Links for KHDC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for KHDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KHDC1 Gene

Publications for KHDC1 Gene

  1. Atypical structure and phylogenomic evolution of the new eutherian oocyte-and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family. (PMID: 17913455) Pierre A. … Monget P. (Genomics 2007) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 4 64

Products for KHDC1 Gene

Sources for KHDC1 Gene

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