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Aliases for C11orf54 Gene

Aliases for C11orf54 Gene

  • Chromosome 11 Open Reading Frame 54 2 3 5
  • Ester Hydrolase C11orf54 3
  • EC 3.1.-.- 4
  • PTOD012 3
  • PTD012 3

External Ids for C11orf54 Gene

Previous GeneCards Identifiers for C11orf54 Gene

  • GC11P093115
  • GC11P093474
  • GC11P089552

Summaries for C11orf54 Gene

GeneCards Summary for C11orf54 Gene

C11orf54 (Chromosome 11 Open Reading Frame 54) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot for C11orf54 Gene

  • Exhibits ester hydrolase activity on the substrate p-nitrophenyl acetate.

Gene Wiki entry for C11orf54 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C11orf54 Gene

Genomics for C11orf54 Gene

Regulatory Elements for C11orf54 Gene

Enhancers for C11orf54 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G093743 1.1 Ensembl ENCODE 64.9 +3.3 3341 3.2 FOXA2 ARID4B DMAP1 ZNF48 RARA MIXL1 KLF11 HMG20B SP5 REST C11orf54 CEP295 GC11P093749 PIR37895
GH11G093783 1.1 ENCODE 59.5 +43.1 43140 2.6 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF548 C11orf54 SNORA1 MED17 MRE11 ANKRD49 SNORA40 SNORD5 SNORD6 SNORA8 SNORA32
GH11G093733 1.4 ENCODE dbSUPER 28.7 -3.3 -3256 9.9 HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 MED17 C11orf54 CEP295 MRE11 TAF1D ANKRD49 SNORA1 SMCO4 GC11M093795 GC11M093805
GH11G093746 0.6 ENCODE 64 +5.7 5747 1.4 SOX5 SOX13 TBX21 YY1 HNF1A HNF4A EGR2 MIXL1 C11orf54 CEP295 GC11P093749 PIR37895
GH11G093654 0.8 Ensembl ENCODE 11.1 -86.2 -86244 1.0 GATA3 GATA2 EGR1 SCRT2 MAX C11orf54 TAF1D MED17 CEP295 GC11P093655 GC11P093624
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C11orf54 on UCSC Golden Path with GeneCards custom track

Promoters for C11orf54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000043404 -691 3401 HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for C11orf54 Gene

Chromosome:
11
Start:
93,741,591 bp from pter
End:
93,764,749 bp from pter
Size:
23,159 bases
Orientation:
Plus strand

Genomic View for C11orf54 Gene

Genes around C11orf54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf54 Gene

Proteins for C11orf54 Gene

  • Protein details for C11orf54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0W9-CK054_HUMAN
    Recommended name:
    Ester hydrolase C11orf54
    Protein Accession:
    Q9H0W9
    Secondary Accessions:
    • A8K850
    • Q6FI88
    • Q6XYB0
    • Q96EI3
    • Q96IX1
    • Q9Y6B4

    Protein attributes for C11orf54 Gene

    Size:
    315 amino acids
    Molecular mass:
    35117 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAH07110.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP34483.1; Type=Frameshift; Positions=125; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for C11orf54 Gene

    Alternative splice isoforms for C11orf54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C11orf54 Gene

Post-translational modifications for C11orf54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C11orf54 Gene

Domains & Families for C11orf54 Gene

Protein Domains for C11orf54 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf54 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C11orf54: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C11orf54 Gene

Function for C11orf54 Gene

Molecular function for C11orf54 Gene

UniProtKB/Swiss-Prot Function:
Exhibits ester hydrolase activity on the substrate p-nitrophenyl acetate.

Enzyme Numbers (IUBMB) for C11orf54 Gene

Gene Ontology (GO) - Molecular Function for C11orf54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IDA 16522806
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IDA 16522806
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with C11orf54: view

Phenotypes for C11orf54 Gene

GenomeRNAi human phenotypes for C11orf54:
genes like me logo Genes that share phenotypes with C11orf54: view

Animal Model Products

CRISPR Products

miRNA for C11orf54 Gene

miRTarBase miRNAs that target C11orf54

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C11orf54 Gene

Localization for C11orf54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf54 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C11orf54 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C11orf54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with C11orf54: view

Pathways & Interactions for C11orf54 Gene

SuperPathways for C11orf54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C11orf54 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C11orf54 Gene

Drugs & Compounds for C11orf54 Gene

No Compound Related Data Available

Transcripts for C11orf54 Gene

Unigene Clusters for C11orf54 Gene

Chromosome 11 open reading frame 54:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf54 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - -
SP11: - - -
SP12: - - - - - - - -
SP13: - -
SP14: - - - - - -
SP15: -
SP16: - - -

ExUns: 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for C11orf54 Gene

GeneLoc Exon Structure for
C11orf54
ECgene alternative splicing isoforms for
C11orf54

Expression for C11orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C11orf54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C11orf54 Gene

This gene is overexpressed in Kidney - Cortex (x7.9) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for C11orf54 Gene

This gene is overexpressed in Liver, secretome (16.1) and Kidney (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C11orf54 Gene



Protein tissue co-expression partners for C11orf54 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C11orf54 Gene:

C11orf54

SOURCE GeneReport for Unigene cluster for C11orf54 Gene:

Hs.8360

Evidence on tissue expression from TISSUES for C11orf54 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Intestine(4.2)
  • Muscle(4.2)
  • Kidney(3.3)
genes like me logo Genes that share expression patterns with C11orf54: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf54 Gene

Orthologs for C11orf54 Gene

This gene was present in the common ancestor of animals.

Orthologs for C11orf54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11orf54 35
  • 100 (a)
OneToOne
C11H11orf54 34
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia C29H11orf54 34
  • 91.11 (n)
C11orf54 35
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11orf54 35
  • 91 (a)
OneToOne
C21H11orf54 34
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia 4931406C07Rik 34 16 35
  • 85.61 (n)
rat
(Rattus norvegicus)
Mammalia RGD1309534 34
  • 82.43 (n)
oppossum
(Monodelphis domestica)
Mammalia C11orf54 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf54 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H11ORF54 34 35
  • 73.31 (n)
lizard
(Anolis carolinensis)
Reptilia C11orf54 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf54 34
  • 67.53 (n)
Str.17657 34
zebrafish
(Danio rerio)
Actinopterygii zgc:85789 34
  • 64.09 (n)
C24H11orf54 35
  • 48 (a)
OneToOne
wufc54a08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9818 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006729 34
  • 49.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9119 34 35
  • 48.97 (n)
CG32335 35
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C24B5.4 34 35
  • 52.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for C11orf54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 C11orf54 Gene

ENSEMBL:
Gene Tree for C11orf54 (if available)
TreeFam:
Gene Tree for C11orf54 (if available)

Paralogs for C11orf54 Gene

No data available for Paralogs for C11orf54 Gene

Variants for C11orf54 Gene

Sequence variations from dbSNP and Humsavar for C11orf54 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000002165 -- 93,741,772(+) AAACA(A/C)AACGT intron-variant, upstream-variant-2KB
rs1000096681 -- 93,742,040(+) TGGAC(G/T)CCAGT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000181338 -- 93,750,637(+) AAAAG(A/G)ATTGT intron-variant
rs1000182201 -- 93,765,710(+) CCCCT(A/G)TCTTG downstream-variant-500B
rs1000291845 -- 93,745,995(+) GGGAC(C/T)GTTAA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for C11orf54 Gene

Variant ID Type Subtype PubMed ID
esv3627294 CNV gain 21293372
nsv832232 CNV gain 17160897

Variation tolerance for C11orf54 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C11orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf54 Gene

Disorders for C11orf54 Gene

Relevant External Links for C11orf54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C11orf54

No disorders were found for C11orf54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C11orf54 Gene

Publications for C11orf54 Gene

  1. Crystal structure of Homo sapiens PTD012 reveals a zinc-containing hydrolase fold. (PMID: 16522806) Manjasetty B.A. … Heinemann U. (Protein Sci. 2006) 2 3 4 22 64
  2. 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 64
  3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for C11orf54 Gene

Sources for C11orf54 Gene

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