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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 3 4
  • BAP18 3 4
  • BPTF Associated Protein Of 18 KDa 2
  • MLL1/MLL Complex Subunit C17orf49 3
  • Chromatin Complexes Subunit BAP18 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

Enhancers for C17orf49 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
GH17F007010 1.5 FANTOM5 ENCODE 6 +3.2 3219 13.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 DVL2 SNORA48 SNORD10 CNTROB ENSG00000262089 NLGN2 KCTD11 SENP3 ENSG00000262067 LOC105371508
GH17F006495 0.9 Ensembl ENCODE 5 -517.5 -517475 2.9 CTCF KLF1 ZFHX2 POLR2A SMARCA4 IKZF1 NFE2 NFE2L2 EGR2 C17orf49 PIR55314 ENSG00000274860
GH17F007027 0.9 Ensembl ENCODE 4.9 +14.6 14606 3.4 PKNOX1 JUN ZNF140 ZBTB40 GABPA POLR2A EGR1 EED PBX2 ETV6 DVL2 CYB5D1 CNTROB KIAA0753 RNASEK C17orf49 GC17P007033 GC17P007034 GC17P007035 PIR37276
GH17F006993 0.9 ENCODE 4.9 -20.1 -20117 2.0 HDAC1 PKNOX1 CBX3 ATF1 ARNT TBL1XR1 NFRKB CHAMP1 GATA2 SMARCA5 ENSG00000262089 TRAPPC1 C17orf49 ALOX12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C17orf49 on UCSC Golden Path with GeneCards custom track

Genomic Location for C17orf49 Gene

7,014,495 bp from pter
7,017,525 bp from pter
3,031 bases
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:
    Recommended name:
    Chromatin complexes subunit BAP18
    Protein Accession:
    Secondary Accessions:
    • B4DIV3
    • C9J4G0
    • E9PB29

    Protein attributes for C17orf49 Gene

    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


neXtProt entry for C17orf49 Gene

Post-translational modifications for C17orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C17orf49 Gene

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


Suggested Antigen Peptide Sequences for C17orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SANT 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.

Gene Ontology (GO) - Molecular Function for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with C17orf49: view

Phenotypes for C17orf49 Gene

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

Animal Models for C17orf49 Gene

MGI Knock Outs for C17orf49:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 C17orf49 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0016589 NURF complex IDA 20850016
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with C17orf49: view

Pathways & Interactions for C17orf49 Gene

SuperPathways for C17orf49 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with C17orf49: view

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

Transcripts for C17orf49 Gene

Unigene Clusters for C17orf49 Gene

Chromosome 17 open reading frame 49:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for C17orf49 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C17orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for C17orf49 Gene

Protein tissue co-expression partners for C17orf49 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C17orf49 Gene:


SOURCE GeneReport for Unigene cluster for C17orf49 Gene:

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

Primer 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
(Pan troglodytes)
Mammalia C17H17orf49 34
  • 100 (n)
C17orf49 35
  • 100 (a)
(Bos Taurus)
Mammalia BAP18 35
  • 97 (a)
C19H17orf49 34
  • 94.15 (n)
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
C5H17orf49 34
  • 92.84 (n)
(Rattus norvegicus)
Mammalia RGD1308134 34
  • 91.37 (n)
(Mus musculus)
Mammalia 0610010K14Rik 34 16 35
  • 91.27 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c17orf49 34
  • 67.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23837 34
(Danio rerio)
Actinopterygii zgc:103508 35
  • 69 (a)
LOC100534865 34
  • 68.07 (n)
zgc:92664 35
  • 67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33695 35
  • 22 (a)
(Caenorhabditis elegans)
Secernentea Y43F8C.6 35
  • 11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3343 35
  • 32 (a)
Species where no ortholog for C17orf49 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)
  • 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

Gene Tree for C17orf49 (if available)
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

Sequence variations from dbSNP and Humsavar for C17orf49 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1044917 -- 7,015,896(+) TGCCA(A/C/G)AAAAG intron-variant, nc-transcript-variant
rs11078662 -- 7,016,938(-) GCATC(A/G)GAGTC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs111330854 -- 7,014,764(+) CTGCG(C/T)GGGGG intron-variant, nc-transcript-variant, utr-variant-5-prime
rs111628844 -- 7,015,126(+) GCAGC(C/T)GCATC nc-transcript-variant, reference, missense
rs111731181 -- 7,017,431(+) ACCTC(A/G)CTATT intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv952117 CNV deletion 24416366
nsv574322 CNV loss 21841781
nsv457659 CNV loss 19166990
esv2422288 CNV deletion 17116639

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf49 Gene

Disorders for C17orf49 Gene

Relevant External Links for C17orf49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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. BAP18 coactivates androgen receptor action and promotes prostate cancer progression. (PMID: 27226492) Sun S. … Zhao Y. (Nucleic Acids Res. 2016) 2 3 64
  2. Molecular basis for DPY-30 association to COMPASS-like and NURF complexes. (PMID: 25456412) Tremblay V. … Couture J.F. (Structure 2014) 2 3 64
  3. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M. … Mann M. (Cell 2010) 3 4 64
  4. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y. … Roeder R.G. (Cell 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for C17orf49 Gene

Sources for C17orf49 Gene

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