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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.

Additional gene information for C17orf49 Gene

No data available for Entrez Gene Summary , CIViC 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
GH17H007882 1.7 FANTOM5 ENCODE dbSUPER 9.9 +872.1 872117 7.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 KDM6B WRAP53 CYB5D1 TMEM88 GPS2 PER1 KCNAB3 TRAPPC1 CNTROB GUCY2D
GH17H007010 1.8 FANTOM5 ENCODE dbSUPER 6 +3.2 3219 13.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC MEF2D DVL2 SNORD10 CNTROB POLR2A SNORA48 WRAP53 ENSG00000262089 GPS2 NLGN2 EIF4A1
GH17H006993 1.2 Ensembl ENCODE 5.9 -19.3 -19253 3.8 HDGF PKNOX1 ATF1 ARNT TCF12 GATA2 ELK1 NCOA1 ZNF592 SNIP1 ENSG00000262089 CNTROB POLR2A WRAP53 DVL2 ALOX12-AS1 KDM6B SNORD10 ALOX12 C17orf49
GH17H006496 1 Ensembl ENCODE dbSUPER 5 -516.9 -516858 1.7 ZFHX2 KLF1 POLR2A EGR2 C17orf49 PIR55314 ENSG00000274860
GH17H007027 0.9 Ensembl ENCODE 4.9 +14.5 14525 3.2 PKNOX1 JUN ELF1 GABPA EED ETV6 CREM RUNX3 RNASEK C17orf49 GC17P007033 GC17P007034 GC17P007035 PIR37276 BCL6B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C17orf49 on UCSC Golden Path with GeneCards custom track

Promoters for C17orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090784 -1095 4401 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Locations for C17orf49 Gene

Genomic Locations for C17orf49 Gene
chr17:7,014,495-7,017,525
(GRCh38/hg38)
Size:
3,031 bases
Orientation:
Plus strand
chr17:6,917,814-6,920,844
(GRCh37/hg19)

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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for C17orf49 Gene

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 From GWAS Catalog for C17orf49 Gene

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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

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:0005829 cytosol 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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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:

C17orf49

SOURCE GeneReport for Unigene cluster for C17orf49 Gene:

Hs.511801

Evidence on tissue expression from TISSUES for C17orf49 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with C17orf49: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 C17H17orf49 33
  • 100 (n)
C17orf49 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BAP18 34
  • 97 (a)
OneToMany
C19H17orf49 33
  • 94.15 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
C5H17orf49 33
  • 92.84 (n)
rat
(Rattus norvegicus)
Mammalia RGD1308134 33
  • 91.37 (n)
mouse
(Mus musculus)
Mammalia 0610010K14Rik 33 16 34
  • 91.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c17orf49 33
  • 67.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23837 33
zebrafish
(Danio rerio)
Actinopterygii zgc:103508 34
  • 69 (a)
ManyToMany
LOC100534865 33
  • 68.07 (n)
zgc:92664 34
  • 67 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG33695 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y43F8C.6 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3343 34
  • 32 (a)
OneToMany
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

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

Sequence variations from dbSNP and Humsavar for C17orf49 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000296550 -- 7,012,914(+) AATGG(A/G)AACTG intron-variant, upstream-variant-2KB
rs1001139790 -- 7,015,996(+) AGTTT(A/T)TTAGA intron-variant, nc-transcript-variant
rs1001337651 -- 7,017,410(+) TGAAA(A/G)GCTGC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1001397642 -- 7,017,139(+) GCTCT(C/T)ATACA intron-variant, nc-transcript-variant, downstream-variant-500B
rs1001828550 -- 7,015,363(+) GTTTC(A/C)CAGTT intron-variant, downstream-variant-500B

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
C17orf49

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:
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. BAP18 coactivates androgen receptor action and promotes prostate cancer progression. (PMID: 27226492) Sun S … Zhao Y (Nucleic acids research 2016) 2 3 60
  2. Molecular basis for DPY-30 association to COMPASS-like and NURF complexes. (PMID: 25456412) Tremblay V … Couture JF (Structure (London, England : 1993) 2014) 2 3 60
  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 60
  4. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y … Roeder RG (Cell 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for C17orf49 Gene

Sources for C17orf49 Gene

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