Aliases for C1orf68 Gene

Aliases for C1orf68 Gene

  • Chromosome 1 Open Reading Frame 68 2 3 5
  • Skin-Specific Protein 32 2 3 4
  • LEP7 2 3
  • XP32 2 3
  • Skin-Specific Protein (Xp32) 3
  • C1orf68 5

External Ids for C1orf68 Gene

Previous GeneCards Identifiers for C1orf68 Gene

  • GC01U901169
  • GC01P150958
  • GC01P152691
  • GC01P124065

Summaries for C1orf68 Gene

GeneCards Summary for C1orf68 Gene

C1orf68 (Chromosome 1 Open Reading Frame 68) is a Protein Coding gene. Diseases associated with C1orf68 include Candidal Paronychia and Neonatal Candidiasis. An important paralog of this gene is LCE1F.

Additional gene information for C1orf68 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 C1orf68 Gene

Genomics for C1orf68 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1orf68 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
GH01J152718 Enhancer 0.2 ENCODE 600.7 -1.1 -1082 0.2 C1orf68 NONHSAG002957.2 LCE4A
GH01J152743 Enhancer 0.9 Ensembl ENCODE 10.3 +24.4 24381 1.8 CREB1 TARDBP FOXA1 RFX1 ATF7 HES1 BMI1 CTBP1 ESRRA KLF4 LCEP1 lnc-KPRP-1 LCE1F C1orf68 LCEP2 lnc-C1orf68-2 KPRP
GH01J152746 Enhancer 0.7 Ensembl 10.2 +26.3 26278 0.4 CEBPG CTCF CEBPA SCRT2 CEBPB RAD51 FOXA2 ZNF335 BHLHE40 USF2 LCEP1 lnc-KPRP-1 LCE1F C1orf68 piR-50852-011 KPRP
GH01J152745 Enhancer 0.7 ENCODE 10.2 +26.0 26048 0 CEBPG CTCF CEBPA SCRT2 CEBPB RAD51 FOXA2 ZNF335 BHLHE40 USF2 LCEP1 lnc-KPRP-1 LCE1F C1orf68 piR-50852-011 KPRP
GH01J152748 Enhancer 0.4 Ensembl 10.2 +25.6 25579 0.2 CTCF PKNOX1 ATF2 LCEP1 lnc-KPRP-1 LCE1F C1orf68 piR-50852-011 KPRP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf68 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf68

Top Transcription factor binding sites by QIAGEN in the C1orf68 gene promoter:
  • AML1a
  • AREB6
  • Bach1
  • C/EBPalpha
  • LyF-1
  • Pax-2
  • Pax-2a
  • Pax-4a
  • RORalpha2
  • YY1

Genomic Locations for C1orf68 Gene

Genomic Locations for C1orf68 Gene
chr1:152,719,522-152,720,470
(GRCh38/hg38)
Size:
949 bases
Orientation:
Plus strand
chr1:152,691,998-152,692,905
(GRCh37/hg19)
Size:
908 bases
Orientation:
Plus strand

Genomic View for C1orf68 Gene

Genes around C1orf68 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf68 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf68 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf68 Gene

Proteins for C1orf68 Gene

  • Protein details for C1orf68 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T750-XP32_HUMAN
    Recommended name:
    Skin-specific protein 32
    Protein Accession:
    Q5T750
    Secondary Accessions:
    • O14634

    Protein attributes for C1orf68 Gene

    Size:
    250 amino acids
    Molecular mass:
    26238 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB83961.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for C1orf68 Gene

Post-translational modifications for C1orf68 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf68 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf68 Gene

Domains & Families for C1orf68 Gene

Gene Families for C1orf68 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf68 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf68 Gene

GenScript: Design optimal peptide antigens:
  • Skin-specific protein 32 (XP32_HUMAN)
genes like me logo Genes that share domains with C1orf68: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf68 Gene

Function for C1orf68 Gene

Phenotypes From GWAS Catalog for C1orf68 Gene

Gene Ontology (GO) - Molecular Function for C1orf68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C1orf68: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf68

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C1orf68 Gene

Localization for C1orf68 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 C1orf68 gene
Compartment Confidence
extracellular 2
plasma membrane 1
nucleus 1
cytosol 1
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C1orf68 Gene

Pathways & Interactions for C1orf68 Gene

PathCards logo

SuperPathways for C1orf68 Gene

No Data Available

Interacting Proteins for C1orf68 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000357764 Q5T750-XP32_HUMAN for C1orf68 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C1orf68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development NAS 9344646
genes like me logo Genes that share ontologies with C1orf68: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf68 Gene

Drugs & Compounds for C1orf68 Gene

No Compound Related Data Available

Transcripts for C1orf68 Gene

mRNA/cDNA for C1orf68 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 C1orf68

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf68 Gene

No ASD Table

Relevant External Links for C1orf68 Gene

GeneLoc Exon Structure for
C1orf68

Expression for C1orf68 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf68 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1orf68 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x32.4) and Skin - Not Sun Exposed (Suprapubic) (x20.2).

Protein differential expression in normal tissues from HIPED for C1orf68 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (16.4), Bone (11.0), Breast (10.3), and Urinary Bladder (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf68 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf68

SOURCE GeneReport for Unigene cluster for C1orf68 Gene:

Hs.601077

mRNA Expression by UniProt/SwissProt for C1orf68 Gene:

Q5T750-XP32_HUMAN
Tissue specificity: Expressed at high levels in normal and psoriatic skin, but not in normal keratinocytes, A-431 cells, or any of the other cell lines or tissues tested.

Evidence on tissue expression from TISSUES for C1orf68 Gene

  • Skin(4.9)
genes like me logo Genes that share expression patterns with C1orf68: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf68 Gene

Orthologs for C1orf68 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C1orf68 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf68 30
  • 99.2 (n)
C1orf68 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C17H1orf68 30
  • 82.19 (n)
C1orf68 31
  • 76 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 2310050C09Rik 30 17 31
  • 78.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100139483 30
  • 77.68 (n)
C1orf68 31
  • 73 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC686143 30
  • 77.22 (n)
Species where no ortholog for C1orf68 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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)
  • Zebrafish (Danio rerio)

Evolution for C1orf68 Gene

ENSEMBL:
Gene Tree for C1orf68 (if available)
TreeFam:
Gene Tree for C1orf68 (if available)

Paralogs for C1orf68 Gene

genes like me logo Genes that share paralogs with C1orf68: view

Variants for C1orf68 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf68 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1332500 - p.Ser26Thr
rs59194678 - p.Leu173Val
rs873775 - p.Thr159Pro

Additional dbSNP identifiers (rs#s) for C1orf68 Gene

Structural Variations from Database of Genomic Variants (DGV) for C1orf68 Gene

Variant ID Type Subtype PubMed ID
esv2758970 CNV gain+loss 17122850
esv2763813 CNV loss 21179565
esv33483 CNV gain+loss 17666407
esv34854 CNV gain 17911159
esv3587568 CNV gain 21293372
nsv469873 CNV loss 16826518
nsv509480 CNV insertion 20534489
nsv547891 CNV loss 21841781
nsv547899 CNV gain 21841781
nsv818478 CNV gain 17921354

Variation tolerance for C1orf68 Gene

Gene Damage Index Score: 9.01; 87.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf68 Gene

Human Gene Mutation Database (HGMD)
C1orf68
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf68

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf68 Gene

Disorders for C1orf68 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C1orf68 Gene - From: DISEASES

Disorder Aliases PubMed IDs
candidal paronychia
  • candidiasis of skin
neonatal candidiasis
  • neonatal candida infection
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C1orf68

genes like me logo Genes that share disorders with C1orf68: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C1orf68 Gene

Publications for C1orf68 Gene

  1. Expression of human skin-specific genes defined by transcriptomics and antibody-based profiling. (PMID: 25411189) Edqvist PH … Pontén F (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2015) 2 3
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Differentially expressed late constituents of the epidermal cornified envelope. (PMID: 11698679) Marshall D … Byrne C (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3
  4. Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. (PMID: 9344646) Zhao XP … Elder JT (Genomics 1997) 3 4
  5. Gain of Additional BIRC3 Protein Functions through 3'-UTR-Mediated Protein Complex Formation. (PMID: 30948266) Lee SH … Mayr C (Molecular cell 2019) 3

Products for C1orf68 Gene

Sources for C1orf68 Gene