Aliases for KRTCAP3 Gene

Aliases for KRTCAP3 Gene

  • Keratinocyte Associated Protein 3 2 3 5
  • Keratinocyte-Associated Protein 3 3 4
  • KCP3 3 4
  • Keratinocytes Associated Protein 3 3
  • KCP-3 4

External Ids for KRTCAP3 Gene

Previous GeneCards Identifiers for KRTCAP3 Gene

  • GC02P027639
  • GC02P027576
  • GC02P027518
  • GC02P027665
  • GC02P027407

Summaries for KRTCAP3 Gene

GeneCards Summary for KRTCAP3 Gene

KRTCAP3 (Keratinocyte Associated Protein 3) is a Protein Coding gene. Diseases associated with KRTCAP3 include Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly and Retinitis Pigmentosa 71. An important paralog of this gene is TMEM54.

Additional gene information for KRTCAP3 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 KRTCAP3 Gene

Genomics for KRTCAP3 Gene

GeneHancer (GH) Regulatory Elements for KRTCAP3 Gene

Promoters and enhancers for KRTCAP3 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
GH02J027441 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.2 249 2 CTCF MNT ZNF148 MYC POLR2A ATF1 PKNOX1 HDAC1 LEF1 ZFX KRTCAP3 SNX17 lnc-PPM1G-2 NRBP1
GH02J027407 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 9.8 -33.3 -33250 3 SIN3A SP1 ZBTB40 CTCF MLX RBPJ POLR2A CTBP1 USF2 CREB1 RF00017-3143 PPM1G lnc-NRBP1-2 SNX17 ZNF512 SUPT7L CAD GPN1 NRBP1 EIF2B4
GH02J027488 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9 +47.3 47333 1.8 FOXK2 SIN3A SP1 SIX5 MLX RBPJ POLR2A CTBP1 ATF1 CREB1 IFT172 RF00017-3145 EIF2B4 CAD SNX17 GTF3C2 GTF3C2-AS1 ATRAID NRBP1 PPM1G
GH02J027368 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 7.6 -71.6 -71594 4.5 SIN3A ZBTB40 SP1 CTCF SIX5 ZBTB6 LCORL MLX RBPJ POLR2A SNX17 EIF2B4 GTF3C2 GPN1 CAD NRBP1 GTF3C2-AS1 ATRAID ZNF512 SUPT7L
GH02J027355 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 7.4 -85.4 -85436 3.8 FOXK2 SIN3A ZBTB40 SIX5 ZBTB6 MLX SMARCE1 RBPJ POLR2A USF2 GTF3C2 ENSG00000234072 LOC105374363 piR-36393-273 piR-50308-342 SNX17 NRBP1 GPN1 CAD EIF2B4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTCAP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTCAP3 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • ER-alpha
  • HNF-4alpha1
  • MIF-1
  • N-Myc
  • NRSF form 1
  • PPAR-alpha

Genomic Locations for KRTCAP3 Gene

Genomic Locations for KRTCAP3 Gene
chr2:27,442,351-27,446,481
(GRCh38/hg38)
Size:
4,131 bases
Orientation:
Plus strand
chr2:27,665,233-27,669,348
(GRCh37/hg19)
Size:
4,116 bases
Orientation:
Plus strand

Genomic View for KRTCAP3 Gene

Genes around KRTCAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTCAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTCAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTCAP3 Gene

Proteins for KRTCAP3 Gene

  • Protein details for KRTCAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53RY4-KCP3_HUMAN
    Recommended name:
    Keratinocyte-associated protein 3
    Protein Accession:
    Q53RY4
    Secondary Accessions:
    • B7ZL49
    • Q6UW42
    • Q8IWS5

    Protein attributes for KRTCAP3 Gene

    Size:
    240 amino acids
    Molecular mass:
    25627 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KRTCAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRTCAP3 Gene

Post-translational modifications for KRTCAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTCAP3 Gene

No data available for DME Specific Peptides for KRTCAP3 Gene

Domains & Families for KRTCAP3 Gene

Gene Families for KRTCAP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KRTCAP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTCAP3 Gene

GenScript: Design optimal peptide antigens:
  • Keratinocyte-associated protein 3 (KCP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53RY4

UniProtKB/Swiss-Prot:

KCP3_HUMAN :
  • Belongs to the TMEM54 family.
Family:
  • Belongs to the TMEM54 family.
genes like me logo Genes that share domains with KRTCAP3: view

Function for KRTCAP3 Gene

Phenotypes From GWAS Catalog for KRTCAP3 Gene

genes like me logo Genes that share phenotypes with KRTCAP3: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTCAP3 Gene

Localization for KRTCAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRTCAP3 Gene

Membrane; Multi-pass membrane protein.

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 KRTCAP3 gene
Compartment Confidence
plasma membrane 2
extracellular 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRTCAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KRTCAP3: view

Pathways & Interactions for KRTCAP3 Gene

PathCards logo

SuperPathways for KRTCAP3 Gene

No Data Available

Interacting Proteins for KRTCAP3 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000442400 for KRTCAP3 Gene via STRING

Symbol External ID(s) Details
NR3C1

Gene Ontology (GO) - Biological Process for KRTCAP3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTCAP3 Gene

Drugs & Compounds for KRTCAP3 Gene

No Compound Related Data Available

Transcripts for KRTCAP3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTCAP3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2:
SP3: - - -
SP4:

Relevant External Links for KRTCAP3 Gene

GeneLoc Exon Structure for
KRTCAP3
ECgene alternative splicing isoforms for
KRTCAP3

Expression for KRTCAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTCAP3 Gene

mRNA differential expression in normal tissues according to GTEx for KRTCAP3 Gene

This gene is overexpressed in Colon - Transverse (x6.8), Pancreas (x5.5), Stomach (x4.9), and Minor Salivary Gland (x4.0).

Protein differential expression in normal tissues from HIPED for KRTCAP3 Gene

This gene is overexpressed in Colon (23.9), Prostate (11.6), Islet of Langerhans (9.7), Pancreas (9.2), and Rectum (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KRTCAP3 Gene



Protein tissue co-expression partners for KRTCAP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRTCAP3 Gene:

KRTCAP3

SOURCE GeneReport for Unigene cluster for KRTCAP3 Gene:

Hs.59509

mRNA Expression by UniProt/SwissProt for KRTCAP3 Gene:

Q53RY4-KCP3_HUMAN
Tissue specificity: Expressed in skin, pancreas and keratinocytes.

Evidence on tissue expression from TISSUES for KRTCAP3 Gene

  • Lung(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with KRTCAP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTCAP3 Gene

Orthologs for KRTCAP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRTCAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTCAP3 33 32
  • 99.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KRTCAP3 33 32
  • 88.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KRTCAP3 33 32
  • 87.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Krtcap3 17 33 32
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Krtcap3 32
  • 84.58 (n)
oppossum
(Monodelphis domestica)
Mammalia KRTCAP3 33
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRTCAP3 33
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRTCAP3 33 32
  • 62.11 (n)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21819 32
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6595 32
zebrafish
(Danio rerio)
Actinopterygii LOC100538219 32
  • 53.93 (n)
CU462878.1 33
  • 44 (a)
OneToOne
Species where no ortholog for KRTCAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KRTCAP3 Gene

ENSEMBL:
Gene Tree for KRTCAP3 (if available)
TreeFam:
Gene Tree for KRTCAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTCAP3: view image

Paralogs for KRTCAP3 Gene

Paralogs for KRTCAP3 Gene

(1) SIMAP similar genes for KRTCAP3 Gene using alignment to 3 proteins:

  • KCP3_HUMAN
  • F8WDP6_HUMAN
  • H7BZ70_HUMAN
genes like me logo Genes that share paralogs with KRTCAP3: view

Variants for KRTCAP3 Gene

Sequence variations from dbSNP and Humsavar for KRTCAP3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs139348179 benign, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly 27,445,374(+) G/A genic_downstream_transcript_variant, intron_variant
rs149614625 pathogenic, Short-rib thoracic dysplasia 10 with or without polydactyly 27,444,503(+) A/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs587777078 pathogenic, Short-rib thoracic dysplasia 10 without polydactyly 27,445,436(+) TCTCTCTC/TCTC genic_downstream_transcript_variant, intron_variant
rs61742074 benign, not specified, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly 27,446,270(+) A/G genic_downstream_transcript_variant, intron_variant
rs786205855 pathogenic, Retinitis pigmentosa 71 27,446,314(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTCAP3 Gene

Variant ID Type Subtype PubMed ID
nsv581244 CNV loss 21841781
nsv817684 CNV gain 17921354
nsv833614 CNV gain 17160897

Variation tolerance for KRTCAP3 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTCAP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTCAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTCAP3 Gene

Disorders for KRTCAP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KRTCAP3 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTCAP3

genes like me logo Genes that share disorders with KRTCAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTCAP3 Gene

Publications for KRTCAP3 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 56
  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 56
  3. Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes. (PMID: 12752121) Bonkobara M … Ariizumi K (The British journal of dermatology 2003) 3 4 56
  4. Proteome-scale Binary Interactomics in Human Cells. (PMID: 27803151) Lievens S … Tavernier J (Molecular & cellular proteomics : MCP 2016) 3 56
  5. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PMID: 23505323) Weissglas-Volkov D … Pajukanta P (Journal of medical genetics 2013) 3 56

Products for KRTCAP3 Gene

Sources for KRTCAP3 Gene