Aliases for C11orf54 Gene

Aliases for C11orf54 Gene

  • Chromosome 11 Open Reading Frame 54 2 3 5
  • Ester Hydrolase C11orf54 3 4
  • PTD012 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 3.1.-.- 4
  • C11orf54 5
  • PTOD012 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. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot Summary for C11orf54 Gene

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

Gene Wiki entry for C11orf54 Gene

Additional gene information for C11orf54 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C11orf54 Gene

Genomics for C11orf54 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C11orf54 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J093733 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 664.8 -1.6 -1636 13.2 BRCA1 ARHGAP35 HNRNPL GATAD2A PRDM10 REST TFE3 LEF1 SOX13 NFKBIZ C11orf54 TAF1D ENSG00000284057 NONHSAG009376.2 lnc-VSTM5-1 MED17 ANKRD49 MRE11 CEP295 SNORA1
GH11J093761 Promoter 0.6 EPDnew 600.4 +20.4 20421 0.1 ZNF316 MAFK EMSY C11orf54 piR-36410 TAF1D ENSG00000284057 MED17 HSALNG0086489
GH11J093783 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 59.5 +43.9 43910 4.2 HNRNPL CREB1 GATAD2A ZNF629 ZNF512 LEF1 ZNF692 POLR2A BACH1 JUND MED17 TAF1D C11orf54 SNORA1 MRE11 ANKRD49 SNORA18 SNORA25 SNORA32 SNORA40
GH11J093817 Enhancer 0.9 Ensembl ENCODE 42.9 +78.2 78163 5.5 GATAD2A TEAD4 ZIC2 HDAC1 CEBPA SOX13 EZH2 NFE2 ZNF316 FOXA2 C11orf54 VSTM5 TAF1D MED17 CEP295 HSALNG0086493 lnc-C11orf54-3
GH11J093746 Enhancer 0.6 ENCODE 64 +5.7 5747 1.4 SP1 SOX13 YY1 FOXP1 BATF HNF4A RXRA TBX21 SOX5 MIXL1 C11orf54 CEP295 ENSG00000284057 NONHSAG009376.2 piR-44896 piR-36410 TAF1D MED17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf54 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C11orf54

Top Transcription factor binding sites by QIAGEN in the C11orf54 gene promoter:
  • aMEF-2
  • GATA-1
  • GR
  • MEF-2
  • MEF-2A
  • POU2F1
  • POU2F1a
  • RORalpha1

Genomic Locations for C11orf54 Gene

Genomic Locations for C11orf54 Gene
chr11:93,741,591-93,764,749
(GRCh38/hg38)
Size:
23,159 bases
Orientation:
Plus strand
chr11:93,474,757-93,497,915
(GRCh37/hg19)
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; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Probably non-functional.

    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

Gene Families for C11orf54 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C11orf54 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf54 Gene

GenScript: Design optimal peptide antigens:
  • Ester hydrolase C11orf54 (CK054_HUMAN)
genes like me logo Genes that share domains with C11orf54: view

No data available for Graphical View of Domain Structure 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

Phenotypes From GWAS Catalog 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
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C11orf54

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
nucleus 5
extracellular 4
cytosol 2
cytoskeleton 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

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 HDA 19056867
genes like me logo Genes that share ontologies with C11orf54: view

Pathways & Interactions for C11orf54 Gene

PathCards logo

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

mRNA/cDNA for C11orf54 Gene

16 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C11orf54

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

Expression for C11orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for C11orf54 Gene



Protein tissue co-expression partners for C11orf54 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C11orf54

SOURCE GeneReport for Unigene cluster for C11orf54 Gene:

Hs.8360

Evidence on tissue expression from TISSUES for C11orf54 Gene

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

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 31
  • 100 (a)
OneToOne
C11H11orf54 30
  • 99.68 (n)
Cow
(Bos Taurus)
Mammalia C29H11orf54 30
  • 91.11 (n)
C11orf54 31
  • 77 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C11orf54 31
  • 91 (a)
OneToOne
C21H11orf54 30
  • 90.48 (n)
Mouse
(Mus musculus)
Mammalia 4931406C07Rik 30 17 31
  • 85.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1309534 30
  • 82.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia C11orf54 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C11orf54 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1H11ORF54 30 31
  • 73.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C11orf54 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c11orf54 30
  • 67.53 (n)
Str.17657 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:85789 30
  • 64.09 (n)
C24H11orf54 31
  • 48 (a)
OneToOne
wufc54a08 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9818 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006729 30
  • 49.89 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9119 30 31
  • 48.97 (n)
OneToMany
CG32335 31
  • 36 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C24B5.4 30 31
  • 52.64 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for C11orf54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Additional dbSNP identifiers (rs#s) for C11orf54 Gene

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)

Additional Variant Information for C11orf54 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C11orf54 Gene

Disorders for C11orf54 Gene

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 BA … Heinemann U (Protein science : a publication of the Protein Society 2006) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  4. Toward 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 research 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for C11orf54 Gene

  • Signalway Proteins for C11orf54

Sources for C11orf54 Gene