Aliases for C5orf51 Gene

Aliases for C5orf51 Gene

  • Chromosome 5 Open Reading Frame 51 2 3 5
  • UPF0600 Protein C5orf51 3 4

External Ids for C5orf51 Gene

Previous GeneCards Identifiers for C5orf51 Gene

  • GC05P041940
  • GC05P041857
  • GC05P041905
  • GC05P041906
  • GC05P041907
  • GC05P041908
  • GC05P041909
  • GC05P041910
  • GC05P041911
  • GC05P041913
  • GC05P041914
  • GC05P041927
  • GC05P041928
  • GC05P041926
  • GC05P041915
  • GC05P041916
  • GC05P041917
  • GC05P041920
  • GC05P041922
  • GC05P041923
  • GC05P041924

Summaries for C5orf51 Gene

GeneCards Summary for C5orf51 Gene

C5orf51 (Chromosome 5 Open Reading Frame 51) is a Protein Coding gene.

Additional gene information for C5orf51 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C5orf51 Gene

Genomics for C5orf51 Gene

GeneHancer (GH) Regulatory Elements for C5orf51 Gene

Promoters and enhancers for C5orf51 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
GH05J041903 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 313 2.6 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 NCOR1 C5orf51 FBXO4 SERBP1P6 OXCT1-AS1 CCDC152 piR-43451
GH05J041902 Enhancer 0.3 Ensembl 500.7 -1.3 -1287 0.2 BCOR ZSCAN21 C5orf51 L13714-368
GH05J041869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 -34.0 -33986 2.8 ZBTB40 EP300 SIN3A NRF1 POLR2G GTF2E2 ZFX ZIC2 POLR2A ZBTB11 OXCT1 ENSG00000286164 LOC102723752 OXCT1-AS1 C5orf51 FBXO4
GH05J041856 Enhancer 1 FANTOM5 Ensembl ENCODE 10.7 -47.1 -47087 1 CTCF REST RAD21 TRIM22 SMC3 DEK ZNF654 RFX5 SCRT1 STAT1 FBXO4 C5orf51 piR-61580-514 OXCT1 LOC102723752
GH05J041871 Enhancer 0.7 ENCODE 11.6 -32.3 -32315 0.4 BCL11A FOS KLF8 ZNF513 STAT3 ZNF189 ZNF843 PRDM6 ZNF24 INSM2 OXCT1 OXCT1-AS1 C5orf51 FBXO4 ENSG00000286164 LOC102723752 RPS2P22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C5orf51 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C5orf51

Top Transcription factor binding sites by QIAGEN in the C5orf51 gene promoter:
  • aMEF-2
  • AML1a
  • GATA-1
  • Hand1
  • MEF-2A
  • USF-1
  • USF1

Genomic Locations for C5orf51 Gene

Genomic Locations for C5orf51 Gene
chr5:41,904,188-41,921,636
(GRCh38/hg38)
Size:
17,449 bases
Orientation:
Plus strand
chr5:41,904,290-41,921,738
(GRCh37/hg19)
Size:
17,449 bases
Orientation:
Plus strand

Genomic View for C5orf51 Gene

Genes around C5orf51 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf51 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf51 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf51 Gene

Proteins for C5orf51 Gene

  • Protein details for C5orf51 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NDU8-CE051_HUMAN
    Recommended name:
    UPF0600 protein C5orf51
    Protein Accession:
    A6NDU8
    Secondary Accessions:
    • A2RRM9

    Protein attributes for C5orf51 Gene

    Size:
    294 amino acids
    Molecular mass:
    33620 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI31722.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

neXtProt entry for C5orf51 Gene

Post-translational modifications for C5orf51 Gene

  • Ubiquitination at Lys97
  • Modification sites at PhosphoSitePlus

Other Protein References for C5orf51 Gene

No data available for DME Specific Peptides for C5orf51 Gene

Domains & Families for C5orf51 Gene

Gene Families for C5orf51 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf51 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C5orf51 Gene

GenScript: Design optimal peptide antigens:
  • UPF0600 protein C5orf51 (CE051_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NDU8

UniProtKB/Swiss-Prot:

CE051_HUMAN :
  • Belongs to the UPF0600 family.
Family:
  • Belongs to the UPF0600 family.
genes like me logo Genes that share domains with C5orf51: view

Function for C5orf51 Gene

genes like me logo Genes that share phenotypes with C5orf51: view

Animal Models for C5orf51 Gene

MGI Knock Outs for C5orf51:

miRNA for C5orf51 Gene

miRTarBase miRNAs that target C5orf51

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C5orf51 Gene

Localization for C5orf51 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 C5orf51 gene
Compartment Confidence
nucleus 4
cytosol 4
extracellular 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C5orf51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with C5orf51: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C5orf51 Gene

Pathways & Interactions for C5orf51 Gene

PathCards logo

SuperPathways for C5orf51 Gene

No Data Available

Interacting Proteins for C5orf51 Gene

;

Gene Ontology (GO) - Biological Process for C5orf51 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C5orf51 Gene

Drugs & Compounds for C5orf51 Gene

No Compound Related Data Available

Transcripts for C5orf51 Gene

mRNA/cDNA for C5orf51 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf51 Gene

No ASD Table

Relevant External Links for C5orf51 Gene

GeneLoc Exon Structure for
C5orf51

Expression for C5orf51 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C5orf51 Gene

Protein differential expression in normal tissues from HIPED for C5orf51 Gene

This gene is overexpressed in Bone (45.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C5orf51 Gene



Protein tissue co-expression partners for C5orf51 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C5orf51

SOURCE GeneReport for Unigene cluster for C5orf51 Gene:

Hs.29899
genes like me logo Genes that share expression patterns with C5orf51: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf51 Gene

Orthologs for C5orf51 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C5orf51 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5orf51 31
  • 100 (a)
OneToOne
C5H5orf51 30
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia C5orf51 31
  • 93 (a)
OneToOne
C4H5orf51 30
  • 91.92 (n)
cow
(Bos Taurus)
Mammalia C20H5orf51 30
  • 90.33 (n)
C5orf51 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AW549877 17 31 30
  • 86.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C5orf51 31
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C5orf51 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CZH5ORF51 30
  • 64.91 (n)
lizard
(Anolis carolinensis)
Reptilia C5orf51 31
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-46a10.3 30
  • 55.96 (n)
C8H5orf51 31
  • 46 (a)
OneToOne
Species where no ortholog for C5orf51 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C5orf51 Gene

ENSEMBL:
Gene Tree for C5orf51 (if available)
TreeFam:
Gene Tree for C5orf51 (if available)

Paralogs for C5orf51 Gene

No data available for Paralogs for C5orf51 Gene

Variants for C5orf51 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C5orf51 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs12520325 - p.Gln20His

Additional dbSNP identifiers (rs#s) for C5orf51 Gene

Structural Variations from Database of Genomic Variants (DGV) for C5orf51 Gene

Variant ID Type Subtype PubMed ID
dgv1096e214 CNV gain 21293372
esv2762518 CNV loss 21179565
esv3604851 CNV gain 21293372
nsv1112872 CNV deletion 24896259
nsv327668 CNV deletion 16902084
nsv830272 CNV gain 17160897
nsv830273 CNV gain 17160897

Variation tolerance for C5orf51 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf51 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf51

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf51 Gene

Disorders for C5orf51 Gene

Additional Disease Information for C5orf51

No disorders were found for C5orf51 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C5orf51 Gene

Publications for C5orf51 Gene

  1. 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 54
  3. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 54
  4. Endosomal Rab cycles regulate Parkin-mediated mitophagy. (PMID: 29360040) Yamano K … Youle RJ (eLife 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for C5orf51 Gene

Sources for C5orf51 Gene