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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.

Additional gene information for KDELC1 Gene

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

GeneHancer (GH) Regulatory Elements for KDELC1 Gene

Promoters and enhancers for KDELC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I102798 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.8 -774 3.7 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 BIVM BIVM-ERCC5 KDELC1 METTL21EP GC13M102806
GH13I102759 Enhancer 0.2 FANTOM5 12.2 +39.3 39271 0.1 CCDC168 LOC105370337 BIVM KDELC1 ERCC5 TEX30
GH13I102793 Enhancer 0.4 ENCODE 0.4 +5.3 5268 0.2 FOXA2 POU5F1 KDELC1 BIVM TEX30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KDELC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KDELC1 gene promoter:

Genomic Locations for KDELC1 Gene

Genomic Locations for KDELC1 Gene
14,774 bases
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:
    Recommended name:
    KDEL motif-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q53HL3
    • Q9BVD2

    Protein attributes for KDELC1 Gene

    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



  • Belongs to the KDELC 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KDELC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen ISS,IBA --
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)
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

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

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

Relevant External Links for KDELC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for KDELC1 Gene:


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
(Pan troglodytes)
Mammalia KDELC1 33 34
  • 99.2 (n)
(Canis familiaris)
Mammalia KDELC1 33 34
  • 91.24 (n)
(Bos Taurus)
Mammalia KDELC1 33 34
  • 89.31 (n)
(Monodelphis domestica)
Mammalia KDELC1 34
  • 88 (a)
(Mus musculus)
Mammalia Kdelc1 33 16 34
  • 87.85 (n)
(Rattus norvegicus)
Mammalia Kdelc1 33
  • 87.25 (n)
(Ornithorhynchus anatinus)
Mammalia KDELC1 34
  • 84 (a)
(Gallus gallus)
Aves KDELC1 33 34
  • 76.97 (n)
(Anolis carolinensis)
Reptilia KDELC1 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelc1 33
  • 71.65 (n)
(Danio rerio)
Actinopterygii kdelc1 33 34
  • 67.41 (n)
zgc56065 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008037 33
  • 51.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31139 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8607 33
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

Gene Tree for KDELC1 (if available)
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 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 Variation AA Info Type
rs1000152944 -- 102,797,996(-) A/G intron_variant
rs1000173440 -- 102,800,346(-) G/C upstream_transcript_variant
rs1000289572 -- 102,800,108(-) G/A upstream_transcript_variant
rs1000801366 -- 102,786,981(-) T/C intron_variant
rs1000926456 -- 102,792,983(-) C/G 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)

Additional Variant Information for KDELC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for KDELC1 Gene

Additional Disease Information for 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 MT (Nature 2004) 3 4 58
  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 58
  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 HF … Gray A (Genome research 2003) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for KDELC1 Gene

Sources for KDELC1 Gene

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