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Aliases for KHDC1L Gene

Aliases for KHDC1L Gene

  • KH Domain Containing 1 Like 2 3 5
  • KH Homology Domain Containing 1-Like 3
  • Putative KHDC1-Like Protein 3
  • RP11-257K9.7 3

External Ids for KHDC1L Gene

Previous GeneCards Identifiers for KHDC1L Gene

  • GC06M073989
  • GC06M073933
  • GC06M071131

Summaries for KHDC1L Gene

GeneCards Summary for KHDC1L Gene

KHDC1L (KH Domain Containing 1 Like) is a Protein Coding gene. An important paralog of this gene is KHDC1.

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 KHDC1L Gene

Genomics for KHDC1L Gene

Regulatory Elements for KHDC1L Gene

Enhancers for KHDC1L 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
GH06G073234 0.7 ENCODE 0.4 -9.9 -9905 2.4 ZNF146 JUN BHLHE40 MAX CEBPB EP300 ZBTB40 JUND MAFF SCRT2 ENSG00000229852 ENSG00000243501 KHDC1 DPPA5 KHDC3L GC06P073237 KHDC1L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KHDC1L on UCSC Golden Path with GeneCards custom track

Genomic Location for KHDC1L Gene

Chromosome:
6
Start:
73,223,544 bp from pter
End:
73,225,770 bp from pter
Size:
2,227 bases
Orientation:
Minus strand

Genomic View for KHDC1L Gene

Genes around KHDC1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDC1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDC1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDC1L Gene

Proteins for KHDC1L Gene

  • Protein details for KHDC1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JSQ8-KHDCL_HUMAN
    Recommended name:
    Putative KHDC1-like protein
    Protein Accession:
    Q5JSQ8
    Secondary Accessions:
    • E1P535

    Protein attributes for KHDC1L Gene

    Size:
    128 amino acids
    Molecular mass:
    14546 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KHDC1L Gene

Post-translational modifications for KHDC1L Gene

No Post-translational modifications

Other Protein References for KHDC1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KHDC1L Gene

Domains & Families for KHDC1L Gene

Protein Domains for KHDC1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KHDC1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JSQ8

UniProtKB/Swiss-Prot:

KHDCL_HUMAN :
  • Belongs to the KHDC1 family.
Family:
  • Belongs to the KHDC1 family.
genes like me logo Genes that share domains with KHDC1L: view

No data available for Gene Families for KHDC1L Gene

Function for KHDC1L Gene

Phenotypes for KHDC1L Gene

GenomeRNAi human phenotypes for KHDC1L:
genes like me logo Genes that share phenotypes with KHDC1L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KHDC1L Gene

Localization for KHDC1L Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for KHDC1L Gene

Pathways & Interactions for KHDC1L Gene

SuperPathways for KHDC1L Gene

No Data Available

Interacting Proteins for KHDC1L Gene

Selected Interacting proteins: Q5JSQ8-KHDCL_HUMAN for KHDC1L Gene via IID

Gene Ontology (GO) - Biological Process for KHDC1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KHDC1L Gene

Drugs & Compounds for KHDC1L Gene

No Compound Related Data Available

Transcripts for KHDC1L Gene

mRNA/cDNA for KHDC1L Gene

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

Unigene Clusters for KHDC1L Gene

KH homology domain containing 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KHDC1L Gene

No ASD Table

Relevant External Links for KHDC1L Gene

GeneLoc Exon Structure for
KHDC1L
ECgene alternative splicing isoforms for
KHDC1L

Expression for KHDC1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KHDC1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of KHDC1L Gene:

KHDC1L

SOURCE GeneReport for Unigene cluster for KHDC1L Gene:

Hs.663639
genes like me logo Genes that share expression patterns with KHDC1L: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KHDC1L Gene

Orthologs for KHDC1L Gene

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

Orthologs for KHDC1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHDC1L 34
  • 98.7 (n)
rat
(Rattus norvegicus)
Mammalia Khdc1c 34
  • 68.91 (n)
mouse
(Mus musculus)
Mammalia Khdc1b 34 35
  • 67.87 (n)
Khdc1c 16 35
  • 37 (a)
Khdc1a 35
  • 37 (a)
ManyToMany
Species where no ortholog for KHDC1L 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)
  • 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 KHDC1L Gene

ENSEMBL:
Gene Tree for KHDC1L (if available)
TreeFam:
Gene Tree for KHDC1L (if available)

Paralogs for KHDC1L Gene

Paralogs for KHDC1L Gene

(1) SIMAP similar genes for KHDC1L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KHDC1L: view

Variants for KHDC1L Gene

Sequence variations from dbSNP and Humsavar for KHDC1L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000240228 -- 73,225,031(+) TGAGC(A/C)GAGAT intron-variant
rs1000574846 -- 73,224,267(+) TCTGG(C/T)CTGTA reference, missense
rs1001573097 -- 73,225,575(+) GGATG(C/T)CCAAT upstream-variant-2KB
rs1002190188 -- 73,226,719(+) AAAAT(A/G)TAATG upstream-variant-2KB
rs1002521948 -- 73,227,085(+) CAGGA(C/T)GTACT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KHDC1L Gene

Variant ID Type Subtype PubMed ID
esv2732285 CNV deletion 23290073
esv2732286 CNV deletion 23290073
esv2732287 CNV deletion 23290073
esv3609501 CNV gain 21293372
nsv1030079 CNV gain 25217958

Variation tolerance for KHDC1L Gene

Residual Variation Intolerance Score: 64.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KHDC1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHDC1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHDC1L Gene

Disorders for KHDC1L Gene

Relevant External Links for KHDC1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KHDC1L

No disorders were found for KHDC1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KHDC1L Gene

Publications for KHDC1L Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  2. 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
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 4 64
  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 64

Products for KHDC1L Gene

Sources for KHDC1L Gene

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