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

C10orf54 Gene

protein-coding   GIFtS: 44
GCID: GC10M073507

Chromosome 10 Open Reading Frame 54

  Search for C10orf54
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 10 Open Reading Frame 541 2     GI242
Stress Induced Secreted Protein 11 2     PP21352
B7-H52     SISP12
B7H52     Platelet Receptor Gi242

External Ids:    HGNC: 300851   Entrez Gene: 641152   Ensembl: ENSG000001077387   UniProtKB: Q9H7M93   

Export aliases for C10orf54 gene to outside databases

Previous GC identifers: GC10M073178 GC10U900642 GC10M067501


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

GeneCards Summary for C10orf54 Gene: 
C10orf54 (chromosome 10 open reading frame 54) is a protein-coding gene.

Gene Wiki entry for C10orf54 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C10orf54 gene promoter:
         ATF-2   NRSF form 1   Nkx5-1   NRSF form 2   GATA-1   E47   CRE-BP1   c-Myb   Pax-4a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC10orf54 promoter sequence
   Search SABiosciences Chromatin IP Primers for C10orf54

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C10orf54


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

C10orf54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C10orf54 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M073507:  view genomic region     (about GC identifiers)

Start:
73,507,313 bp from pter      End:
73,533,337 bp from pter
Size:
26,025 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GI24_HUMAN, Q9H7M9 (See protein sequence)
Recommended Name: Platelet receptor Gi24 precursor  
Size: 311 amino acids; 33908 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=AAL55778.1; Type=Erroneous termination; Positions=84; Note=Translated as Ser;
Sequence=AAL55778.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in
the N-terminal part; Sequence=BAB15739.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8MVH5 Q6UXF3 Q8WUG3 Q8WYZ8

Explore the universe of human proteins at neXtProt for C10orf54: NX_Q9H7M9

Explore proteomics data for C10orf54 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H7M9

  • C10orf54 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C10orf54 Protein Expression
    REFSEQ proteins: NP_071436.1  
    ENSEMBL proteins: 
     ENSP00000378409   ENSP00000473568  

    Human Recombinant Protein Products for C10orf54: 
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    Browse Sino Biological Cell Lysates 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    C10orf54 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    VSET: Immunoglobulin superfamily / V-set domain containing

    4 InterPro protein domains:
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set

    Graphical View of Domain Structure for InterPro Entry Q9H7M9

    ProtoNet protein and cluster: Q9H7M9

    1 Blocks protein domain: IPB013106 Immunoglobulin V-set

    UniProtKB/Swiss-Prot: GI24_HUMAN, Q9H7M9
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain


    C10orf54 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    C10orf54 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for 4632428N05Rik (no phenotypes)

    C10orf54 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out 4632428N05Riktm1Lex for C10orf54

       inGenious Targeting Laboratory - Custom generated mouse model solutions for C10orf54 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C10orf54

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for C10orf54 (Q9H7M92, 3 ENSP000003784094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3MINT-61732 I2D: score=3 
    PLSCR1O151623, ENSP000003454944I2D: score=4 STRING: ENSP00000345494
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C10orf54 (GI24)

    Search CenterWatch for drugs/clinical trials and news about C10orf54 / GI24

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C10orf54 gene: 
    NM_022153.1  

    Unigene Cluster for C10orf54:

    Chromosome 10 open reading frame 54
    Hs.47382  [show with all ESTs]
    Unigene Representative Sequence: NM_022153
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394957(uc001jsd.3 uc001jse.3) ENST00000470317 ENST00000481568

    miRNA
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    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate C10orf54 (see all 40):
    hsa-miR-4291 hsa-miR-579 hsa-miR-3194-5p hsa-miR-15a hsa-miR-759 hsa-miR-570 hsa-miR-105 hsa-miR-424
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C10orf54
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C10orf54

    Additional mRNA sequence: 

    AB073653.1 AF193048.1 AK024449.1 AY265805.1 AY358379.1 BC020568.1 BC111048.1 BC127257.1 
    EF506490.1 

    16 DOTS entries:

    DT.95352283  DT.95238640  DT.75102935  DT.101983591  DT.100882368  DT.100882366  DT.121260659  DT.95238639 
    DT.40265648  DT.100793214  DT.115109  DT.100030892  DT.100882362  DT.105753  DT.95216541  DT.97846813 

    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

    C10orf54 expression in normal human tissues (normalized intensities)      C10orf54 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C10orf54 Expression
    About this image


    C10orf54 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois

    See C10orf54 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C10orf54

    SOURCE GeneReport for Unigene cluster: Hs.47382
        SABiosciences Custom PCR Arrays for C10orf54
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C10orf54

    (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 chordates.

    Orthologs for C10orf54 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4632428N05Rik1 , 5 RIKEN cDNA 4632428N05 gene1, 5 79.65(n)1
    77.92(a)1
      10 (30.26 cM)5
    740481  NM_028732.41  NP_083008.11 
     603468515 
    chicken
    (Gallus gallus)
    Aves C10ORF546
    Uncharacterized protein
    55(a)
    1 ↔ 1
    6(11475431-11484506)
    lizard
    (Anolis carolinensis)
    Reptilia C10ORF546
    Uncharacterized protein
    57(a)
    1 ↔ 1
    3(48449439-48464849)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1530731 zgc:153073 51.99(n)
    43.24(a)
      570830  NM_001077581.1  NP_001071049.1 


    ENSEMBL Gene Tree for C10orf54 (if available)
    TreeFam Gene Tree for C10orf54 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C10orf54 gene
    1 SIMAP similar gene for C10orf54 using alignment to 4 protein entries:     GI24_HUMAN (see all proteins):
    SISP1

    C10orf54 for paralogs           About GeneDecksing



    (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) 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

    1 SNPs in C10orf54 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0280364
    ----see VAR_0280362 D E mis40--------

    HapMap Linkage Disequilibrium report for C10orf54 (73507313 - 73533337 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C10orf54:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1096295CNV Deletion17803354
    nsv470963CNV Loss18288195
    nsv895716CNV Loss21882294
    nsv831910CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C10orf54

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    C10orf54 for disorders           About MalaCards

    C10orf54 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C10orf54

    Export disorders for C10orf54 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 C10orf54 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with C10orf54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (2012)
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    8. Evolution of the B7 family: co-evolution of B7H6 and N Kp30, identification of a new B7 family member, B7H7, and of B7's historical rel ationship with the MHC. (PubMed id 22488247)1 Flajnik M.F....Ohta Y. (2012)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (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: 64115 HGNC: 30085 Ensembl:ENSG00000107738 euGenes: HUgn64115 ECgene: C10orf54
    H-InvDB: C10orf54

    (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 C10orf54 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 C10orf54 gene:
    Search GeneIP for patents involving C10orf54

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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