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C5orf49 Gene

protein-coding   GIFtS: 35
GCID: GC05M007886

Chromosome 5 Open Reading Frame 49

  Search for C5orf49
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 5 Open Reading Frame 491 2
Uncharacterized Protein C5orf492

External Ids:    HGNC: 270281   Entrez Gene: 1341212   Ensembl: ENSG000002152177   UniProtKB: A4QMS73   

Export aliases for C5orf49 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C5orf49 Gene:
C5orf49 (chromosome 5 open reading frame 49) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf49 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   LHX3b/Lhx3b   STAT1beta   Nkx3-1 v1   Nkx3-1 v2   LHX3a/Lhx3a   Nkx3-1 v3   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf49


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15.31   Ensembl cytogenetic band:  5p15.31   HGNC cytogenetic band: 5p15.31

C5orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf49 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M007886:  view genomic region     (about GC identifiers)

Start:
7,830,491 bp from pter      End:
7,851,603 bp from pter
Size:
21,113 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CE049_HUMAN, A4QMS7 (See protein sequence)
Recommended Name: Uncharacterized protein C5orf49  
Size: 147 amino acids; 16991 Da

Explore the universe of human proteins at neXtProt for C5orf49: NX_A4QMS7

Explore proteomics data for C5orf49 at MOPED


See C5orf49 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001083053.1  
ENSEMBL proteins: 
 ENSP00000382708   ENSP00000426019  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR027901 DUF4541

Graphical View of Domain Structure for InterPro Entry A4QMS7

ProtoNet protein and cluster: A4QMS7


Find genes that share domains with C5orf49           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus3

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C5orf49
Interactions:

    Search GeneGlobe Interaction Network for C5orf49

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C5orf49 (CE049)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C5orf49 gene: 
NM_001089584.2  

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000399810(uc003jea.4) ENST00000509627
miRNA
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Inhib. RNA
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Selected AceView cDNA sequences (see all 36):

AA933908 BI826343 BM926576 BE047750 BC062569 CA311990 CA450447 BC053548 
BG718954 AI866532 AI537654 BG705051 AA626697 BU607947 AA770449 AW197847 
BI825807 BM978575 BG771567 AI217425 BI820760 BF740042 BI770319 AA872143 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C5orf49 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
C5orf49 Expression
About this image

C5orf49 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C5orf49 Protein Expression
    Custom PCR Arrays for C5orf49
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for C5orf49 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1700001L19Rik1 , 5 RIKEN cDNA 1700001L19 gene1, 5 79.63(n)1
75(a)1
  13 (35.55 cM)5
693151  NM_027035.11  NP_081311.11 
 685974395 
chicken
(Gallus gallus)
Aves LOC1008573761 uncharacterized LOC100857376 65.32(n)
59.68(a)
  100857376  XM_003640781.2  XP_003640829.1 
lizard
(Anolis carolinensis)
Reptilia C5orf496
chromosome 5 open reading frame 49
49(a)
1 ↔ 1
4(82555427-82563552)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-46h3.11 si:dkeyp-46h3.1 52.34(n)
48.76(a)
  100317613  XM_002665531.1  XP_002665577.1 


ENSEMBL Gene Tree for C5orf49 (if available)
TreeFam Gene Tree for C5orf49 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C5orf49 (see all 489)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1907507521,2
Cuntested17832655(+) TTGTCA/GCCCAG 1 -- int10--------
rs1151750051,2
C,F--7830758(+) AATTGC/ACGGAA 1 -- ut311Minor allele frequency- A:0.06WA 118
rs1452807931,2
--7830760(+) TTGCCA/GGAATT 1 -- ut310--------
rs3261771,2
C,F,O,A,H--7830825(+) GTGATG/AGAGCG 1 -- ut3118Minor allele frequency- A:0.10MN NA NS EA WA CSA 2040
rs1476153201,2
--7830971(+) GGTAAA/GTTTCA 1 -- ut310--------
rs22877781,2
C,F,O,A,H--7831013(+) GGTTAC/TAAGCG 1 -- ut3136Minor allele frequency- N:0.00EA NA NS WA CSA 3400
rs1853864711,2
--7831078(+) CACTGA/GGTGGG 1 -- ut310--------
rs3261781,2
C,F,H--7831147(+) AACTCT/CTCTAG 1 -- ut3119Minor allele frequency- C:0.02NS EA NA WA CSA 1125
rs1899594011,2
--7831329(+) GAGCAC/TTGCTG 1 -- ut310--------
rs168792101,2
C--7831411(+) GACCTC/TTGGAA 1 -- ut314Minor allele frequency- T:0.08NA WA 258

HapMap Linkage Disequilibrium report for C5orf49 (7830491 - 7851603 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C5orf49:    About this table    
Variant IDTypeSubtypePubMed ID
esv2659269CNV Deletion23128226
esv272060CNV Insertion20981092
esv273206CNV Insertion20981092
esv26647CNV Loss19812545

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease from the University of Copenhagen DISEASES database for C5orf49:
Lewy body dementia

Find genes that share disorders with C5orf49           About GenesLikeMe

Genetic Association Database (GAD): C5orf49
Human Genome Epidemiology (HuGE) Navigator: C5orf49 (1 document)

Export disorders for C5orf49 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for C5orf49 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C5orf49)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 134121 HGNC: 27028 AceView: LOC134121 Ensembl:ENSG00000215217 euGenes: HUgn134121
ECgene: C5orf49 H-InvDB: C5orf49

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C5orf49 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C5orf49 gene:
Search GeneIP for patents involving C5orf49

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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