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Aliases for KHDC1 Gene

Aliases for KHDC1 Gene

  • KH Domain Containing 1 2 3 5
  • KH Homology Domain Containing 1 2 3
  • C6orf147 3 4
  • 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
  • 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 Domain Containing 1) is a Protein Coding gene. Diseases associated with KHDC1 include Moyamoya Disease 1. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is ENSG00000243501.

Additional gene information for KHDC1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for KHDC1 Gene

Promoters and enhancers for KHDC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I073308 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.5 511 1.9 PKNOX1 ATF1 SIN3A FEZF1 ZNF2 BRCA1 ZNF121 POLR2B GLIS2 E2F8 KHDC1 EIF3EP1 MTO1
GH06I073262 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.2 +46.6 46631 3.4 PKNOX1 RB1 SIN3A ZBTB40 ZNF335 ZNF121 GLIS2 ETV6 SMARCA5 CBFB ENSG00000229852 ENSG00000243501 KHDC1 EIF3EP1 MTO1 DPPA5 KHDC3L RPSAP41
GH06I073247 Promoter 0.5 EPDnew 550.2 +62.9 62873 0.1 KHDC1 OOEP DDX43 RPS6P8 GC06P073237 ENSG00000243501
GH06I073460 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.8 -151.5 -151470 2.5 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SP3 MTO1 EEF1A1 EIF3EP1 KHDC1 SLC17A5 ENSG00000229852 CD109 RPL39P3 RNU6-975P
GH06I073234 Enhancer 0.6 ENCODE 12.5 +74.7 74691 2.4 ZNF146 JUN MAX CEBPB EP300 ZBTB40 SP1 JUND MAFF STAT3 GC06P073237 ENSG00000229852 ENSG00000243501 KHDC1 KHDC3L DPPA5 KHDC1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KHDC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KHDC1 Gene

Genomic Locations for KHDC1 Gene
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KHDC1 Gene

No data available for DME Specific Peptides for KHDC1 Gene

Domains & Families for KHDC1 Gene

Gene Families for KHDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KHDC1 Gene


Suggested Antigen Peptide Sequences for KHDC1 Gene

Graphical View of Domain Structure for InterPro Entry



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

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

miRNA for KHDC1 Gene

miRTarBase miRNAs that target KHDC1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

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

Drugs & Compounds for KHDC1 Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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:


Evidence on tissue expression from TISSUES for KHDC1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KHDC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.42 (n)
(Mus musculus)
Mammalia Khdc1b 34
  • 51 (a)
Khdc1c 34
  • 41 (a)
Khdc1a 34
  • 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 Variation AA Info Type
rs1000015999 -- 73,258,313(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000080575 -- 73,289,679(-) /T genic_upstream_transcript_variant, intron_variant
rs1000102538 -- 73,247,905(-) CCTT/CCTTCCTT genic_downstream_transcript_variant, intron_variant
rs1000105285 -- 73,254,636(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000315180 -- 73,262,204(-) A/T genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for KHDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for KHDC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KHDC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards
Search KHDC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KHDC1

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

No data available for 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh JH … Kim NS (Mammalian genome : official journal of the International Mammalian Genome Society 2005) 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 4 58

Products for KHDC1 Gene

Sources for KHDC1 Gene

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