Aliases for C11orf1 Gene

Aliases for C11orf1 Gene

  • Chromosome 11 Open Reading Frame 1 2 3 5
  • UPF0686 Protein C11orf1 3 4

External Ids for C11orf1 Gene

Previous GeneCards Identifiers for C11orf1 Gene

  • GC11U990011
  • GC11P111783
  • GC11P111287
  • GC11P111255
  • GC11P111749
  • GC11P107673

Summaries for C11orf1 Gene

GeneCards Summary for C11orf1 Gene

C11orf1 (Chromosome 11 Open Reading Frame 1) is a Protein Coding gene. Diseases associated with C11orf1 include Spinal Muscular Atrophy, Type Iii.

Gene Wiki entry for C11orf1 Gene

Additional gene information for C11orf1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C11orf1 Gene

Genomics for C11orf1 Gene

GeneHancer (GH) Regulatory Elements for C11orf1 Gene

Promoters and enhancers for C11orf1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C11orf1

Top Transcription factor binding sites by QIAGEN in the C11orf1 gene promoter:
  • En-1
  • FOXL1
  • Gfi-1
  • NF-AT
  • NF-AT1
  • Nkx2-2
  • p53
  • POU2F1
  • POU2F1a
  • RP58

Genomic Locations for C11orf1 Gene

Genomic Locations for C11orf1 Gene
chr11:111,878,935-111,885,975
(GRCh38/hg38)
Size:
7,041 bases
Orientation:
Plus strand
chr11:111,749,659-111,756,699
(GRCh37/hg19)
Size:
7,041 bases
Orientation:
Plus strand

Genomic View for C11orf1 Gene

Genes around C11orf1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf1 Gene

Proteins for C11orf1 Gene

  • Protein details for C11orf1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5F2-CK001_HUMAN
    Recommended name:
    UPF0686 protein C11orf1
    Protein Accession:
    Q9H5F2
    Secondary Accessions:
    • Q6I9X7
    • Q9NQC6

    Protein attributes for C11orf1 Gene

    Size:
    150 amino acids
    Molecular mass:
    17785 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C11orf1 Gene

Post-translational modifications for C11orf1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C11orf1 Gene

No data available for DME Specific Peptides for C11orf1 Gene

Domains & Families for C11orf1 Gene

Gene Families for C11orf1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C11orf1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf1 Gene

GenScript: Design optimal peptide antigens:
  • UPF0686 protein C11orf1 (CK001_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H5F2

UniProtKB/Swiss-Prot:

CK001_HUMAN :
  • Belongs to the UPF0686 family.
Family:
  • Belongs to the UPF0686 family.
genes like me logo Genes that share domains with C11orf1: view

Function for C11orf1 Gene

Phenotypes From GWAS Catalog for C11orf1 Gene

Gene Ontology (GO) - Molecular Function for C11orf1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C11orf1: view
genes like me logo Genes that share phenotypes with C11orf1: view

Animal Models for C11orf1 Gene

MGI Knock Outs for C11orf1:

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C11orf1 Gene

Localization for C11orf1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf1 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 C11orf1 gene
Compartment Confidence
nucleus 4
extracellular 1
mitochondrion 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C11orf1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 21873635
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with C11orf1: view

Pathways & Interactions for C11orf1 Gene

PathCards logo

SuperPathways for C11orf1 Gene

No Data Available

Interacting Proteins for C11orf1 Gene

Selected Interacting proteins: Q9H5F2-CK001_HUMAN for C11orf1 Gene via IID

Symbol External ID(s) Details
SETDB1
;

Gene Ontology (GO) - Biological Process for C11orf1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C11orf1: view

No data available for Pathways by source and SIGNOR curated interactions for C11orf1 Gene

Drugs & Compounds for C11orf1 Gene

No Compound Related Data Available

Transcripts for C11orf1 Gene

mRNA/cDNA for C11orf1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: -
SP2: - - - -
SP3: - -
SP4:

Relevant External Links for C11orf1 Gene

GeneLoc Exon Structure for
C11orf1

Expression for C11orf1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C11orf1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C11orf1

SOURCE GeneReport for Unigene cluster for C11orf1 Gene:

Hs.17546

Evidence on tissue expression from TISSUES for C11orf1 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with C11orf1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf1 Gene

Orthologs for C11orf1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C11orf1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC101906594 30
  • 92.89 (n)
-- 31
  • 78 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C5H11orf1 30
  • 90.16 (n)
C11orf1 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564937 30
  • 86.96 (n)
mouse
(Mus musculus)
Mammalia 1110032A03Rik 17 31 30
  • 83.67 (n)
chimpanzee
(Pan troglodytes)
Mammalia C11orf1 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C11orf1 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves C24H11ORF1 30
  • 65.55 (n)
C11orf1 31
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C11orf1 31
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC797203 30
  • 57.07 (n)
C11orf1 31
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for C11orf1 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C11orf1 Gene

ENSEMBL:
Gene Tree for C11orf1 (if available)
TreeFam:
Gene Tree for C11orf1 (if available)

Paralogs for C11orf1 Gene

No data available for Paralogs for C11orf1 Gene

Variants for C11orf1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C11orf1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11540721 - p.Lys49Gln
rs3180820 - p.Gln85His
rs9280 - p.Val40Ala

Additional dbSNP identifiers (rs#s) for C11orf1 Gene

Structural Variations from Database of Genomic Variants (DGV) for C11orf1 Gene

Variant ID Type Subtype PubMed ID
esv3627745 CNV gain 21293372
nsv832269 CNV loss 17160897

Variation tolerance for C11orf1 Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf1 Gene

Disorders for C11orf1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C11orf1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal muscular atrophy, type iii
  • sma3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf1

genes like me logo Genes that share disorders with C11orf1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf1 Gene

Publications for C11orf1 Gene

  1. Characterization of five novel human genes in the 11q13-q22 region. (PMID: 10873569) O'Brien KP … Dumanski JP (Biochemical and biophysical research communications 2000) 2 3 4 54
  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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for C11orf1 Gene

  • Biorbyt antibodies for C11orf1

Sources for C11orf1 Gene