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Aliases for KDELC1 Gene

Aliases for KDELC1 Gene

  • KDEL Motif Containing 1 2 3 5
  • Endoplasmic Reticulum Resident Protein 58 3 4
  • KDEL (Lys-Asp-Glu-Leu) Containing 1 2 3
  • ER Protein 58 3 4
  • ERp58 3 4
  • EP58 3 4
  • KDEL Motif-Containing Protein 1 3
  • KDEL1 3

External Ids for KDELC1 Gene

Previous GeneCards Identifiers for KDELC1 Gene

  • GC13M101796
  • GC13M097823
  • GC13M102273
  • GC13M101134
  • GC13M102234
  • GC13M103436
  • GC13M084028

Summaries for KDELC1 Gene

Entrez Gene Summary for KDELC1 Gene

  • This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for KDELC1 Gene

KDELC1 (KDEL Motif Containing 1) is a Protein Coding gene. An important paralog of this gene is KDELC2.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDELC1 Gene

Genomics for KDELC1 Gene

Regulatory Elements for KDELC1 Gene

Enhancers for KDELC1 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
GH13G102759 0.3 FANTOM5 12.2 +39.3 39272 0.1 CCDC168 BIVM KDELC1 ERCC5 TEX30 LOC105370337
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KDELC1 on UCSC Golden Path with GeneCards custom track

Promoters for KDELC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000065344 -546 3201 PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for KDELC1 Gene

Chromosome:
13
Start:
102,784,281 bp from pter
End:
102,799,054 bp from pter
Size:
14,774 bases
Orientation:
Minus strand

Genomic View for KDELC1 Gene

Genes around KDELC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDELC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDELC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDELC1 Gene

Proteins for KDELC1 Gene

  • Protein details for KDELC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UW63-KDEL1_HUMAN
    Recommended name:
    KDEL motif-containing protein 1
    Protein Accession:
    Q6UW63
    Secondary Accessions:
    • Q53HL3
    • Q9BVD2

    Protein attributes for KDELC1 Gene

    Size:
    502 amino acids
    Molecular mass:
    58043 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KDELC1 Gene

neXtProt entry for KDELC1 Gene

Post-translational modifications for KDELC1 Gene

Other Protein References for KDELC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KDELC1 Gene

Domains & Families for KDELC1 Gene

Gene Families for KDELC1 Gene

Suggested Antigen Peptide Sequences for KDELC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UW63

UniProtKB/Swiss-Prot:

KDEL1_HUMAN :
  • Belongs to the KDELC family.
Family:
  • Belongs to the KDELC family.
genes like me logo Genes that share domains with KDELC1: view

Function for KDELC1 Gene

Gene Ontology (GO) - Molecular Function for KDELC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046527 glucosyltransferase activity IBA --
genes like me logo Genes that share ontologies with KDELC1: view
genes like me logo Genes that share phenotypes with KDELC1: view

Animal Model Products

CRISPR Products

miRNA for KDELC1 Gene

miRTarBase miRNAs that target KDELC1

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KDELC1 Gene

Localization for KDELC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDELC1 Gene

Endoplasmic reticulum lumen.

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 KDELC1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KDELC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen IBA,ISS --
genes like me logo Genes that share ontologies with KDELC1: view

Pathways & Interactions for KDELC1 Gene

SuperPathways for KDELC1 Gene

No Data Available

Interacting Proteins for KDELC1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000365172%0d%0a9606.ENSP00000321874%0d%0a9606.ENSP00000299328%0d%0a
Selected Interacting proteins: Q6UW63-KDEL1_HUMAN ENSP00000365172 for KDELC1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for KDELC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006664 glycolipid metabolic process IBA --
genes like me logo Genes that share ontologies with KDELC1: view

No data available for Pathways by source and SIGNOR curated interactions for KDELC1 Gene

Drugs & Compounds for KDELC1 Gene

No Compound Related Data Available

Transcripts for KDELC1 Gene

Unigene Clusters for KDELC1 Gene

KDEL (Lys-Asp-Glu-Leu) containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KDELC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for KDELC1 Gene

GeneLoc Exon Structure for
KDELC1
ECgene alternative splicing isoforms for
KDELC1

Expression for KDELC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KDELC1 Gene

Protein differential expression in normal tissues from HIPED for KDELC1 Gene

This gene is overexpressed in Serum (51.7) and Liver (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KDELC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of KDELC1 Gene:

KDELC1

SOURCE GeneReport for Unigene cluster for KDELC1 Gene:

Hs.408629

Evidence on tissue expression from TISSUES for KDELC1 Gene

  • Heart(4.2)
genes like me logo Genes that share expression patterns with KDELC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KDELC1 Gene

Orthologs for KDELC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KDELC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KDELC1 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia KDELC1 34 35
  • 91.24 (n)
cow
(Bos Taurus)
Mammalia KDELC1 34 35
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia KDELC1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kdelc1 34 16 35
  • 87.85 (n)
rat
(Rattus norvegicus)
Mammalia Kdelc1 34
  • 87.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KDELC1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves KDELC1 34 35
  • 76.97 (n)
lizard
(Anolis carolinensis)
Reptilia KDELC1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelc1 34
  • 71.65 (n)
zebrafish
(Danio rerio)
Actinopterygii kdelc1 34 35
  • 67.41 (n)
zgc56065 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008037 34
  • 51.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31139 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8607 34
Species where no ortholog for KDELC1 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KDELC1 Gene

ENSEMBL:
Gene Tree for KDELC1 (if available)
TreeFam:
Gene Tree for KDELC1 (if available)

Paralogs for KDELC1 Gene

Paralogs for KDELC1 Gene

(2) SIMAP similar genes for KDELC1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for KDELC1 Gene

genes like me logo Genes that share paralogs with KDELC1: view

Variants for KDELC1 Gene

Sequence variations from dbSNP and Humsavar for KDELC1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000152944 -- 102,797,996(+) TTGTT(A/G)CAATC intron-variant, upstream-variant-2KB
rs1000173440 -- 102,800,346(+) GCCTC(C/G)TCTTC intron-variant, upstream-variant-2KB
rs1000289572 -- 102,800,108(+) AGGCG(A/G)GCCTG intron-variant, upstream-variant-2KB
rs1000801366 -- 102,786,981(+) ACTCT(C/T)ACTCT intron-variant
rs1000926456 -- 102,792,983(+) GTTGC(C/G)CAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KDELC1 Gene

Variant ID Type Subtype PubMed ID
nsv1048497 CNV gain 25217958

Variation tolerance for KDELC1 Gene

Residual Variation Intolerance Score: 24.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.71; 94.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KDELC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDELC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDELC1 Gene

Disorders for KDELC1 Gene

Relevant External Links for KDELC1

Genetic Association Database (GAD)
KDELC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KDELC1

No disorders were found for KDELC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KDELC1 Gene

Publications for KDELC1 Gene

  1. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for KDELC1 Gene

Sources for KDELC1 Gene

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