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Aliases for KHDC1 Gene

Aliases for KHDC1 Gene

  • KH Homology Domain Containing 1 2 3 5
  • C6orf148 3 4
  • 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 ENSG00000243501.

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

Promoters for KHDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KHDC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KHDC1 Gene

Chromosome:
6
Start:
73,241,314 bp from pter
End:
73,310,365 bp from pter
Size:
69,052 bases
Orientation:
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:
    Q4VXA5-KHDC1_HUMAN
    Recommended name:
    KH homology domain-containing protein 1
    Protein Accession:
    Q4VXA5
    Secondary Accessions:
    • Q5JSQ7
    • Q8WTV2
    • Q96NQ5

    Protein attributes for KHDC1 Gene

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

    Alternative splice isoforms for KHDC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KHDC1 Gene

Proteomics data for KHDC1 Gene at MOPED

Post-translational modifications for KHDC1 Gene

No Post-translational modifications

Other Protein References for KHDC1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KHDC1

No data available for DME Specific Peptides for KHDC1 Gene

Domains & Families for KHDC1 Gene

Protein Domains for KHDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KHDC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q4VXA5

UniProtKB/Swiss-Prot:

KHDC1_HUMAN :
  • Contains 1 KH domain.
  • Belongs to the KHDC1 family.
Domain:
  • Contains 1 KH domain.
Family:
  • 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

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

Animal Model Products

CRISPR Products

miRNA for KHDC1 Gene

miRTarBase miRNAs that target KHDC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components 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

None

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:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: -
SP2: -
SP3:

Relevant External Links for KHDC1 Gene

GeneLoc Exon Structure for
KHDC1
ECgene alternative splicing isoforms for
KHDC1

Expression for KHDC1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for KHDC1 Gene Hs.433062

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

Protein tissue co-expression partners for KHDC1 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia KHDC1 35
  • 99.42 (n)
  • 99.13 (a)
mouse
(Mus musculus)
Mammalia Khdc1a 36
  • 40 (a)
ManyToMany
Khdc1b 36
  • 51 (a)
ManyToMany
Khdc1c 36
  • 41 (a)
ManyToMany
Species with no ortholog for KHDC1:
  • 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

ENSEMBL:
Gene Tree for KHDC1 (if available)
TreeFam:
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.org 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
rs471270 -- 73,279,828(-) GAGGC(C/T)GAGGT intron-variant
rs471938 -- 73,295,330(-) gctct(A/C)gagtc intron-variant
rs474984 -- 73,276,189(-) tagac(A/G)gaatc intron-variant
rs509406 -- 73,269,312(-) gagcc(C/T)ctttc intron-variant
rs510551 -- 73,263,223(+) GCGCG(G/T)CTGCG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2732286 CNV Deletion 23290073
nsv886157 CNV Loss 21882294
esv2732288 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
KHDC1

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:
KHDC1

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 67
  2. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for KHDC1 Gene

Sources for KHDC1 Gene

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