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C1orf68 Gene

protein-coding   GIFtS: 33
GCID: GC01P152691

Chromosome 1 Open Reading Frame 68

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(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 1 Open Reading Frame 681 2
LEP72
XP322
Skin-Specific Protein (Xp32)2
Skin-Specific Protein 322

External Ids:    HGNC: 294681   Entrez Gene: 1001292712   Ensembl: ENSG000001988547   UniProtKB: Q5T7503   

Export aliases for C1orf68 gene to outside databases

Previous GC identifers: GC01U901169 GC01P150958 GC01P124065


(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 C1orf68 Gene:
C1orf68 (chromosome 1 open reading frame 68) 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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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf68 gene promoter:
         Bach1   AML1a   Pax-2   Pax-2a   C/EBPalpha   YY1   RORalpha2   AREB6   Pax-4a   LyF-1   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf68


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

C1orf68 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf68 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152691:  view genomic region     (about GC identifiers)

Start:
152,691,998 bp from pter      End:
152,692,905 bp from pter
Size:
908 bases      Orientation:
plus 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,
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UniProtKB/Swiss-Prot: XP32_HUMAN, Q5T750 (See protein sequence)
Recommended Name: Skin-specific protein 32  
Size: 250 amino acids; 26238 Da
Sequence caution: Sequence=AAB83961.1; Type=Frameshift; Positions=241;
Secondary accessions: O14634

Explore the universe of human proteins at neXtProt for C1orf68: NX_Q5T750

Explore proteomics data for C1orf68 at MOPED


See C1orf68 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001019850.1  
ENSEMBL proteins: 
 ENSP00000357764  

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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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2 InterPro protein domains:
 IPR026075 SPRR/LCE
 IPR026078 Skin_specific_32

Graphical View of Domain Structure for InterPro Entry Q5T750

ProtoNet protein and cluster: Q5T750


Find genes that share domains with C1orf68           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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
Find genes that share ontologies with C1orf68           About GenesLikeMe


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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
cytosol2
extracellular2
nucleus1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--

Find genes that share ontologies with C1orf68           About GenesLikeMe


(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 C1orf68
Interactions:

    Search GeneGlobe Interaction Network for C1orf68

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008544epidermis development NAS9344646

Find genes that share ontologies with C1orf68           About GenesLikeMe



(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
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Browse Tocris compounds for C1orf68 (XP32)



(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 C1orf68 gene: 
NM_001024679.2  

Unigene Cluster for C1orf68:

Chromosome 1 open reading frame 68
Hs.601077  [show with all ESTs]
Unigene Representative Sequence: NM_001024679
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000368775(uc010pdu.2)
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Additional mRNA sequence: AF005081.1 

1 DOTS entry:

DT.92071923 

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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C1orf68 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CACCAGCTTC
C1orf68 Expression
About this image

C1orf68 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf68 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.601077

UniProtKB/Swiss-Prot: XP32_HUMAN, Q5T750
Tissue specificity: Expressed at high levels in normal and psoriatic skin, but not in normal keratinocytes, A-431
cells, or any of the other cell lines or tissues tested

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In Situ
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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 human and mouse.

Orthologs for C1orf68 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2310050C09Rik1 , 5 RIKEN cDNA 2310050C09 gene1, 5 78.06(n)1
75(a)1
  3 (40.14 cM)5
665331  NM_025621.21  NP_079897.21 
 928683595 


ENSEMBL Gene Tree for C1orf68 (if available)
TreeFam Gene Tree for C1orf68 (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 C1orf68 (see all 88)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1427901731,2
--152690118(+) ACTTAA/CCTGCT 1 -- us2k10--------
rs127384371,2
H--152690167(+) agttgT/Ggtcca 1 -- us2k14Minor allele frequency- G:0.00NS EA 420
rs124072931,2
C,F,H--152690203(+) TGTTAT/CATATA 1 -- us2k14Minor allele frequency- C:0.01NS NA EA 364
rs1473790401,2
C--152690297(+) TCAGCA/GTTCTT 1 -- us2k10--------
rs13324981,2
C,F,O,A,H--152690448(+) TAGAAT/CAACCT 1 -- us2k128Minor allele frequency- C:0.32NA NS EA WA 3012
rs168343661,2
C,F,H--152690547(+) CCAGCA/GGAAGT 1 -- us2k117Minor allele frequency- G:0.07NA NS EA WA 2252
rs48454661,2
C,F,A,H--152690745(+) CTATAA/CCTTGG 1 -- us2k114Minor allele frequency- C:0.33NA WA CSA EA 517
rs609212401,2
C--152690823(+) ATAAC-/TTATAGG 1 -- us2k10--------
rs48454671,2
C,F,A,H--152690825(+) AACTTA/CTAGGA 1 -- us2k124Minor allele frequency- C:0.35NA NS EA WA CSA 2527
rs1915852151,2
--152690826(+) ACTTAC/TAGGAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C1orf68 (152691998 - 152692905 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for C1orf68:    About this table    
Variant IDTypeSubtypePubMed ID
nsv509480CNV Insertion20534489
esv34854CNV Gain17911159
nsv818478CNV Gain17921354
esv33483CNV Gain+Loss17666407
essv16576CNV CNV17122850
nsv469873CNV Complex16826518
dgv131e1CNV Complex17122850

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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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Find genes that share disorders with C1orf68           About GenesLikeMe

Human Genome Epidemiology (HuGE) Navigator: C1orf68 (1 document)

Export disorders for C1orf68 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 C1orf68 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C1orf68)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  2. Differentially expressed late constituents of the epidermal cornified envelope. (PubMed id 11698679)1, 3 Marshall D....Byrne C. (Proc. Natl. Acad. Sci. U.S.A. 2001)
  3. Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. (PubMed id 9344646)1, 2 Zhao X.P. and Elder J.T. (Genomics 1997)
  4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
  6. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. (PubMed id 20200978)1 Ichikawa S....Econs M.J. (J. Bone Miner. Res. 2010)
  7. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
  8. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (Genome Biol. 2007)
  9. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

(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: 100129271 HGNC: 29468 Ensembl:ENSG00000198854 euGenes: HUgn100129271 ECgene: C1orf68
H-InvDB: C1orf68

(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 C1orf68 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 C1orf68 gene:
Search GeneIP for patents involving C1orf68

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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 Browse SwitchGear Promoter luciferase reporter plasmids for C1orf68
 Search ThermoFisher Antibodies for C1orf68
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C1orf68
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf68
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C1orf68
 Search LSBio for Antibodies for C1orf68
Customized transgenic rodents for:
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 Search Addgene for plasmids for C1orf68
  Search eBioscience for proteins for C1orf68
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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