Aliases for KHDC4 Gene

Aliases for KHDC4 Gene

  • KH Domain Containing 4, Pre-MRNA Splicing Factor 2 3 5
  • KIAA0907 2 3 4
  • KH Homology Domain-Containing Protein 4 3 4
  • Pre-MRNA Splicing Factor Protein KHDC4 3 4
  • Brings Lots Of Money 7 3 4
  • SNORA80EHG 3 4
  • BLOM7 3 4
  • Protein BLOM7 3

External Ids for KHDC4 Gene

Previous HGNC Symbols for KHDC4 Gene

  • KIAA0907

Summaries for KHDC4 Gene

GeneCards Summary for KHDC4 Gene

KHDC4 (KH Domain Containing 4, Pre-MRNA Splicing Factor) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for KHDC4 Gene

  • RNA-binding protein involved in pre-mRNA splicing (PubMed:19641227). Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome (PubMed:19641227). Involved in regulating splice site selection (PubMed:19641227). Binds preferentially RNA with A/C rich sequences and poly-C stretches (PubMed:23144703).

Additional gene information for KHDC4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KHDC4 Gene

Genomics for KHDC4 Gene

GeneHancer (GH) Regulatory Elements for KHDC4 Gene

Promoters and enhancers for KHDC4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KHDC4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KHDC4

Genomic Locations for KHDC4 Gene

Genomic Locations for KHDC4 Gene
chr1:155,913,043-155,934,442
(GRCh38/hg38)
Size:
21,400 bases
Orientation:
Minus strand
chr1:155,882,834-155,904,191
(GRCh37/hg19)
Size:
21,358 bases
Orientation:
Minus strand

Genomic View for KHDC4 Gene

Genes around KHDC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDC4 Gene

Proteins for KHDC4 Gene

  • Protein details for KHDC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7F0-KHDC4_HUMAN
    Recommended name:
    KH homology domain-containing protein 4
    Protein Accession:
    Q7Z7F0
    Secondary Accessions:
    • O94981
    • Q7L7Q2
    • Q7Z7E9
    • Q8TBQ0

    Protein attributes for KHDC4 Gene

    Size:
    614 amino acids
    Molecular mass:
    64845 Da
    Quaternary structure:
    • Interacts with PRPF19 (PubMed:19641227). Isoform 2: Interacts with U2AF65 (PubMed:19641227).
    Miscellaneous:
    • [Isoform 2]: Interacts with U2AF65.
    SequenceCaution:
    • Sequence=BAA74930.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KHDC4 Gene

    Alternative splice isoforms for KHDC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KHDC4 Gene

Post-translational modifications for KHDC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KHDC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KHDC4 Gene

Domains & Families for KHDC4 Gene

Gene Families for KHDC4 Gene

Protein Domains for KHDC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KHDC4 Gene

GenScript: Design optimal peptide antigens:
  • KIAA0907, isoform CRA_a (D3DVA4_HUMAN)
  • UPF0469 protein KIAA0907 (K0907_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z7F0

UniProtKB/Swiss-Prot:

KHDC4_HUMAN :
  • The C-terminal part is necessary for the interaction with the PRP19C/Prp19 complex/NTC/Nineteen complex.
  • Belongs to the KHDC4 family.
Domain:
  • The C-terminal part is necessary for the interaction with the PRP19C/Prp19 complex/NTC/Nineteen complex.
  • The KH domains mediate RNA-binding.
Family:
  • Belongs to the KHDC4 family.
genes like me logo Genes that share domains with KHDC4: view

Function for KHDC4 Gene

Molecular function for KHDC4 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein involved in pre-mRNA splicing (PubMed:19641227). Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome (PubMed:19641227). Involved in regulating splice site selection (PubMed:19641227). Binds preferentially RNA with A/C rich sequences and poly-C stretches (PubMed:23144703).

Phenotypes From GWAS Catalog for KHDC4 Gene

Gene Ontology (GO) - Molecular Function for KHDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 19641227
GO:0005515 protein binding IPI 19641227
genes like me logo Genes that share ontologies with KHDC4: view
genes like me logo Genes that share phenotypes with KHDC4: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KHDC4 Gene

Localization for KHDC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDC4 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KHDC4 gene
Compartment Confidence
nucleus 5
cytosol 1
plasma membrane 0
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KHDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 19641227
GO:0005681 colocalizes_with spliceosomal complex IDA 19641227
GO:0005737 cytoplasm IEA,IDA 19641227
genes like me logo Genes that share ontologies with KHDC4: view

Pathways & Interactions for KHDC4 Gene

PathCards logo

SuperPathways for KHDC4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KHDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006376 mRNA splice site selection IDA 19641227
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with KHDC4: view

No data available for Pathways by source and SIGNOR curated interactions for KHDC4 Gene

Drugs & Compounds for KHDC4 Gene

No Compound Related Data Available

Transcripts for KHDC4 Gene

mRNA/cDNA for KHDC4 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KHDC4 Gene

No ASD Table

Relevant External Links for KHDC4 Gene

GeneLoc Exon Structure for
KHDC4

Expression for KHDC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KHDC4

mRNA Expression by UniProt/SwissProt for KHDC4 Gene:

Q7Z7F0-KHDC4_HUMAN
Tissue specificity: Ubiquitous. Expressed at high level in skeletal muscle, kidney, heart, brain and liver.

Evidence on tissue expression from TISSUES for KHDC4 Gene

  • Lung(5)
  • Nervous system(4.6)
  • Liver(4.4)
  • Adrenal gland(4.2)
genes like me logo Genes that share expression patterns with KHDC4: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KHDC4 Gene

Orthologs for KHDC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KHDC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0907 31
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0907 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0907 31 30
  • 93.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0907 31 30
  • 92.62 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1565775 30
  • 90.8 (n)
mouse
(Mus musculus)
Mammalia 2810403A07Rik 31 30
  • 90.66 (n)
OneToOne
Khdc4 17
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0907 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0907 31 30
  • 80.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0907 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0907 30
  • 67.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14194 30
zebrafish
(Danio rerio)
Actinopterygii kiaa0907 31 30
  • 61.04 (n)
OneToOne
Dr.1618 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5853 30
Species where no ortholog for KHDC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KHDC4 Gene

ENSEMBL:
Gene Tree for KHDC4 (if available)
TreeFam:
Gene Tree for KHDC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KHDC4: view image

Paralogs for KHDC4 Gene

No data available for Paralogs for KHDC4 Gene

Variants for KHDC4 Gene

Additional dbSNP identifiers (rs#s) for KHDC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for KHDC4 Gene

Variant ID Type Subtype PubMed ID
esv33869 CNV loss 17666407
nsv509513 CNV insertion 20534489

Variation tolerance for KHDC4 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KHDC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHDC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KHDC4 Gene

Disorders for KHDC4 Gene

Additional Disease Information for KHDC4

No disorders were found for KHDC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KHDC4 Gene

Publications for KHDC4 Gene

  1. Inhibition of pre-mRNA splicing by a synthetic Blom7α-interacting small RNA. (PMID: 23144703) Löscher M … Grillari J (PloS one 2012) 2 3 4 54
  2. Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing that interacts with SNEVPrp19-Pso4. (PMID: 19641227) Grillari J … Grillari-Voglauer R (The Journal of biological chemistry 2009) 2 3 4 54
  3. Small nucleolar RNA 42 acts as an oncogene in lung tumorigenesis. (PMID: 21986946) Mei YP … Jiang F (Oncogene 2012) 2 3 54
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 54
  5. LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells. (PMID: 29997244) Trepte P … Wanker EE (Molecular systems biology 2018) 3 54

Products for KHDC4 Gene

Sources for KHDC4 Gene