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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C1orf53 Gene

protein-coding   GIFtS: 36
GCID: GC01P197871

chromosome 1 open reading frame 53

 Explore 1 disease affiliated with
C1orf53 via our new
 Human Malady Compendium 
Biological research products
for C1orf53
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 1 Open Reading Frame 531 2
Uncharacterized Protein C1orf532

External Ids:    HGNC: 300031   Entrez Gene: 3887222   Ensembl: ENSG000002037247   UniProtKB: Q5VUE53   
ORGUL members:         
NONCODE:n338441    

Export aliases for C1orf53 gene to outside databases

Previous GC identifers: GC01P194602 GC01P196138 GC01P169027


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf53 gene promoter:
         ER-alpha   STAT5B   USF1   Pax-6   MyoD   Nkx2-5   AREB6   Nkx6-1   FOXJ2 (long isoform)   USF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf53

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf53


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

Entrez Gene cytogenetic band: 1q31.3   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q31.3

C1orf53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf53 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P197871:  view genomic region     (about GC identifiers)

Start:
197,871,682 bp from pter      End:
197,876,497 bp from pter
Size:
4,816 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CA053_HUMAN, Q5VUE5 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf53  
Size: 145 amino acids; 15483 Da
Sequence caution: Sequence=CAH71759.1; Type=Erroneous gene model prediction;
Secondary accessions: A1L4N2 Q5VUE4

Explore the universe of human proteins at neXtProt for C1orf53: NX_Q5VUE5

C1orf53 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001019765.1  
ENSEMBL proteins: 
 ENSP00000356363   ENSP00000396800  

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q5VUE5


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1orf53

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/9 Interacting proteins for C1orf53 (ENSP000003563634) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
InteractantInteraction Details
GeneCardExternal ID(s)
DMRTA2ENSP000003839094STRING: ENSP00000383909
ELAVL4ENSP000003495944STRING: ENSP00000349594
NUF2ENSP000002714524STRING: ENSP00000271452
--ENSP000004158474STRING: ENSP00000415847
--ENSP000004112864STRING: ENSP00000411286
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C1orf53
Search CenterWatch for drugs/clinical trials and news about C1orf53 / CA053 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C1orf53 gene: 
NM_001024594.2  

Unigene Cluster for C1orf53:

Chromosome 1 open reading frame 53
Hs.61329  [show with all ESTs]
Unigene Representative Sequence: NM_001024594
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000367393(uc001guh.3) ENST00000436652 ENST00000542800

miRNA
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Inhib. RNA
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Clone
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Additional cDNA sequence: 

BC038214.1 BC130608.1 BC130634.1 

2 DOTS entries:

DT.106650  DT.100743017 

13 AceView cDNA sequences:

AA036748 BC038214 AA027229 BX092465 BG188021 CA414863 AI499050 BI870104 
CD512232 BG219885 AA057320 AA026168 BI832220 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C1orf53 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCGGCCAGGC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See C1orf53 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1orf53

SOURCE GeneReport for Unigene cluster: Hs.61329

UniProtKB/Swiss-Prot: CA053_HUMAN, Q5VUE5
Tissue specificity: Expressed in retina and retinoblastoma

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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1orf53
In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for C1orf53

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for C1orf53 gene from 5/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2310009B15Rik1 , 5 RIKEN cDNA 2310009B15 gene1, 5 76.96(n)1
69.85(a)1
  1 (60.82 cM)5
695491  NM_001081226.11  NP_001074695.11 
 1388519795 
chicken
(Gallus gallus)
Aves C1orf536
Uncharacterized protein
47(a)
1 ↔ 1
8(2307510-2310552)
tropical clawed frog
(Xenopus tropicalis)
Amphibia AL775797.22   -- 74.75(n)    AL775797.2 
zebrafish
(Danio rerio)
Actinopterygii si:dkey-121a9.36
si:dkey-121a9.3
41(a)
1 ↔ 1
22(24991113-24994384)
worm
(Caenorhabditis elegans)
Secernentea mrpl-146
Protein MRPL-14, isoform b
21(a)
1 ↔ 1
II(7308663-7310107)


ENSEMBL Gene Tree for C1orf53 (if available)
TreeFam Gene Tree for C1orf53 (if available) 

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

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/107 NCBI SNPs in C1orf53 are shown (see all 107    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1386096821,2
--197869794(+) GACGCC/TGAGGC 1 -- us2k10--------
rs1886902301,2
--197869821(+) CCTACA/GAATTC 1 -- us2k10--------
rs1147457051,2
F,--197869841(+) CTGTGC/TAACAT 1 -- us2k11Minor allele frequency- T:0.07WA 118
rs771107241,2
F,--197869845(+) GCAACA/GTTGGG 1 -- us2k11Minor allele frequency- G:0.03WA 118
rs67032401,2
C,F,A,--197869858(+) ACCGCA/GTGTCT 1 -- us2k18Minor allele frequency- G:0.30NA WA CSA EA 250
rs1170238831,2
F,--197869880(+) GTTAGC/TCAAGC 1 -- us2k11Minor allele frequency- T:0.03EA 120
rs1493188661,2
--197869900(+) CACACC/TTGTAG 1 -- us2k10--------
rs1146979301,2
F,--197869903(+) ACCTGT/CAGTTC 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs1462651851,2
--197870003(+) CTTGGA/CAACAG 1 -- us2k10--------
rs1153836251,2
--197870144(+) TTACAA/GTATGA 1 -- us2k11Minor allele frequency- G:0.01WA 118

HapMap Linkage Disequilibrium report for C1orf53 (197871682 - 197876497 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for C1orf53: --

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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.)
About This Section

C1orf53 for disorders           About GeneDecksing

1 disease for C1orf53:    About MalaCards
retinoblastoma


Export disorders for C1orf53 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)
About This Section

PubMed articles for C1orf53 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C1orf53)
    Utopia: connect your pdf to the dynamic
world of online information

  1. KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers. (PubMed id 15897902)1, 2, 3 Corson T.W.... Gallie B.L. (2005)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 388722 HGNC: 30003 AceView: LOC388722 Ensembl:ENSG00000203724 euGenes: HUgn388722
ECgene: C1orf53 H-InvDB: C1orf53

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C1orf53 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C1orf53 gene:
Search GeneIP for patents involving C1orf53

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

 
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