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Aliases for C17orf49 Gene

Aliases for C17orf49 Gene

  • Chromosome 17 Open Reading Frame 49 2 3
  • 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
  • Chromatin Complexes Subunit BAP18 3
  • HEPIS 3

External Ids for C17orf49 Gene

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

Genomic Location for C17orf49 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C17orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf49 Gene

Regulatory Elements 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

No data available for DME Specific Peptides for C17orf49 Gene

Domains for C17orf49 Gene

Protein Domains for C17orf49 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IXM2

UniProtKB/Swiss-Prot:

BAP18_HUMAN
Domain:
  • Contains 1 SANT domain.:
    • Q8IXM2
genes like me logo Genes that share domains with C17orf49: view

No data available for Gene Families and Suggested Antigen Peptide Sequences 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

Gene Ontology (GO) - Molecular Function for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with C17orf49: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016589 NURF complex IDA 20850016
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with C17orf49: view

Pathways for C17orf49 Gene

SuperPathways for C17orf49 Gene

No Data Available

Interacting Proteins for C17orf49 Gene

Gene Ontology (GO) - Biological Process for C17orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016568 chromatin modification IEA --
genes like me logo Genes that share ontologies with C17orf49: view

No data available for Pathways by source for C17orf49 Gene

Transcripts for C17orf49 Gene

mRNA/cDNA 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

Integrated Proteomics: protein expression 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 expressions with C17orf49: view

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 C17H17orf49 35
  • 100 (n)
  • 100 (a)
C17orf49 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BAP18 36
  • 97 (a)
OneToMany
C19H17orf49 35
  • 94.15 (n)
  • 97.66 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 96 (a)
OneToMany
C5H17orf49 35
  • 92.84 (n)
  • 95.81 (a)
mouse
(Mus musculus)
Mammalia 0610010K14Rik 35
  • 91.27 (n)
  • 94.24 (a)
0610010K14Rik 16
0610010K14Rik 36
  • 95 (a)
OneToMany
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 LOC100534865 35
  • 68.07 (n)
  • 73.16 (a)
zgc:103508 36
  • 69 (a)
ManyToMany
zgc:92664 36
  • 67 (a)
ManyToMany
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

Selected 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 MAF
rs397791608 -- 7,015,157(-) TTCGC(A/G)CCCGC splice-donor-variant

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

Relevant External Links for C17orf49 Gene

HapMap Linkage Disequilibrium report
C17orf49

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

Disorders for C17orf49 Gene

No disorders were found for C17orf49 Gene.

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

Publications for C17orf49 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 4
  3. 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) 3 4
  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
  5. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M. … Mann M. (Cell 2010) 3 4

Products for C17orf49 Gene

Sources for C17orf49 Gene

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