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Aliases for C17orf49 Gene

Aliases for C17orf49 Gene

  • Chromosome 17 Open Reading Frame 49 2 3 5
  • Human Embryo Lung Cellular Protein Interacting With SARS-CoV Nsp-10 2 3
  • BPTF Associated Protein Of 18 KDa 2 3
  • BPTF-Associated Protein Of 18 KDa 3 4
  • BAP18 3 4
  • MLL1/MLL Complex Subunit C17orf49 3
  • HEPIS 3

External Ids for C17orf49 Gene

Previous GeneCards Identifiers for C17orf49 Gene

  • GC17P006861
  • GC17P006918
  • GC17P006920

Summaries for C17orf49 Gene

GeneCards Summary for C17orf49 Gene

C17orf49 (Chromosome 17 Open Reading Frame 49) is a Protein Coding gene. GO annotations related to this gene include chromatin binding. An important paralog of this gene is RNASEK-C17orf49.

UniProtKB/Swiss-Prot for C17orf49 Gene

  • Component of chromatin complexes such as the MLL1/MLL and NURF complexes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C17orf49 Gene

Genomics for C17orf49 Gene

Regulatory Elements for C17orf49 Gene

Genomic Location for C17orf49 Gene

Chromosome:
17
Start:
7,014,495 bp from pter
End:
7,017,525 bp from pter
Size:
3,031 bases
Orientation:
Plus strand

Genomic View for C17orf49 Gene

Genes around C17orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf49 Gene

Proteins for C17orf49 Gene

  • Protein details for C17orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXM2-BAP18_HUMAN
    Recommended name:
    Chromatin complexes subunit BAP18
    Protein Accession:
    Q8IXM2
    Secondary Accessions:
    • B4DIV3
    • C9J4G0
    • E9PB29

    Protein attributes for C17orf49 Gene

    Size:
    172 amino acids
    Molecular mass:
    17900 Da
    Quaternary structure:
    • Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the nucleosome-remodeling factor (NURF) complex.

    Alternative splice isoforms for C17orf49 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C17orf49 Gene

Proteomics data for C17orf49 Gene at MOPED

Post-translational modifications for C17orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C17orf49 Gene

Antibody Products

No data available for DME Specific Peptides for C17orf49 Gene

Domains & Families for C17orf49 Gene

Gene Families for C17orf49 Gene

Protein Domains for C17orf49 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C17orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXM2

UniProtKB/Swiss-Prot:

BAP18_HUMAN :
  • Contains 1 SANT domain.
Domain:
  • Contains 1 SANT domain.
genes like me logo Genes that share domains with C17orf49: view

Function for C17orf49 Gene

Molecular function for C17orf49 Gene

UniProtKB/Swiss-Prot Function:
Component of chromatin complexes such as the MLL1/MLL and NURF complexes.

Phenotypes for C17orf49 Gene

genes like me logo Genes that share phenotypes with C17orf49: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C17orf49 Gene

Localization for C17orf49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C17orf49 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C17orf49 Gene COMPARTMENTS Subcellular localization image for C17orf49 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0016589 NURF complex IDA 20850016
genes like me logo Genes that share ontologies with C17orf49: view

Pathways & Interactions for C17orf49 Gene

SuperPathways for C17orf49 Gene

No Data Available

Interacting Proteins for C17orf49 Gene

Gene Ontology (GO) - Biological Process for C17orf49 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C17orf49 Gene

Drugs & Compounds for C17orf49 Gene

No Compound Related Data Available

Transcripts for C17orf49 Gene

Unigene Clusters for C17orf49 Gene

Chromosome 17 open reading frame 49:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf49 Gene

No ASD Table

Relevant External Links for C17orf49 Gene

GeneLoc Exon Structure for
C17orf49
ECgene alternative splicing isoforms for
C17orf49

Expression for C17orf49 Gene

mRNA expression in normal human tissues for C17orf49 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C17orf49 Gene

This gene is overexpressed in Tlymphocyte (12.0) and NK cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C17orf49 Gene



SOURCE GeneReport for Unigene cluster for C17orf49 Gene Hs.511801

genes like me logo Genes that share expression patterns with C17orf49: view

Protein tissue co-expression partners for C17orf49 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C17orf49 Gene

Orthologs for C17orf49 Gene

This gene was present in the common ancestor of animals.

Orthologs for C17orf49 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17orf49 36
  • 100 (a)
OneToOne
C17H17orf49 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia C19H17orf49 35
  • 94.15 (n)
  • 97.66 (a)
BAP18 36
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 96 (a)
OneToMany
C5H17orf49 35
  • 92.84 (n)
  • 95.81 (a)
mouse
(Mus musculus)
Mammalia 0610010K14Rik 36
  • 95 (a)
OneToMany
0610010K14Rik 16
0610010K14Rik 35
  • 91.27 (n)
  • 94.24 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1308134 35
  • 91.37 (n)
  • 95.29 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23837 35
tropical clawed frog
(Silurana tropicalis)
Amphibia c17orf49 35
  • 67.36 (n)
  • 69.63 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:103508 36
  • 69 (a)
ManyToMany
zgc:92664 36
  • 67 (a)
ManyToMany
LOC100534865 35
  • 68.07 (n)
  • 73.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33695 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y43F8C.6 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3343 36
  • 32 (a)
OneToMany
Species with no ortholog for C17orf49:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for C17orf49 Gene

ENSEMBL:
Gene Tree for C17orf49 (if available)
TreeFam:
Gene Tree for C17orf49 (if available)

Paralogs for C17orf49 Gene

Paralogs for C17orf49 Gene

(2) SIMAP similar genes for C17orf49 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C17orf49: view

Variants for C17orf49 Gene

Structural Variations from Database of Genomic Variants (DGV) for C17orf49 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV Deletion 17116639
nsv907634 CNV Loss 21882294
nsv457659 CNV Loss 19166990

Variation tolerance for C17orf49 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C17orf49 Gene

HapMap Linkage Disequilibrium report
C17orf49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for C17orf49 Gene

Disorders for C17orf49 Gene

Relevant External Links for C17orf49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C17orf49

No disorders were found for C17orf49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf49 Gene

Publications for C17orf49 Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  2. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PMID: 22623531) Toyoshima M. … Grandori C. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3
  3. Identification and characterization of a novel human PP1 phosphatase complex. (PMID: 20516061) Lee J.H. … Skalnik D.G. (J. Biol. Chem. 2010) 3
  4. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M. … Mann M. (Cell 2010) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for C17orf49 Gene

Sources for C17orf49 Gene

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