Aliases for KRTAP29-1 Gene

Aliases for KRTAP29-1 Gene

  • Keratin Associated Like Protein 29-1 2 3 5
  • KAP29.2 2 3 4
  • Keratin Associated Protein 29-1 2 3
  • Keratin-Associated Protein 29-1 3 4
  • Keratin-Associated Protein 29.2 3 4
  • KRTAP29-1 5

External Ids for KRTAP29-1 Gene

Previous GeneCards Identifiers for KRTAP29-1 Gene

  • GC00U928091
  • GC17M039469
  • GC17M039470
  • GC17M039474
  • GC17M039476
  • GC17M039478
  • GC17M039480
  • GC17M039482

Summaries for KRTAP29-1 Gene

GeneCards Summary for KRTAP29-1 Gene

KRTAP29-1 (Keratin Associated Like Protein 29-1) is a Protein Coding gene. Diseases associated with KRTAP29-1 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization.

Additional gene information for KRTAP29-1 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 KRTAP29-1 Gene

Genomics for KRTAP29-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP29-1 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
GH17J041301 Enhancer 0.4 Ensembl 250.7 +0.2 150 2.6 POLR2A RFX1 ZNF558 KRTAP29-1 KRT34 KRT36 KRT31 piR-31534-287 HSALNG0116424 KRTAP9-7
GH17J041333 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.1 -36.0 -36037 10.2 MAFF EBF1 YBX1 BHLHE40 SPI1 ZNF416 ZNF24 NRF1 PKNOX1 MTA2 HSALNG0116426 KRT34 KRT38 KRT32 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6
GH17J041307 Promoter/Enhancer 0.9 Ensembl ENCODE 0.4 -5.9 -5929 2.5 GABPA SPI1 POLR2A REST GLIS1 ZBTB40 GABPB1 TCF12 KRTAP16-1 KRT38 KRT31 KRT36 TOP2A KRTAP29-1 HSALNG0116424
GH17J041286 Enhancer 0.5 Ensembl 0.4 +15.8 15750 1.4 MAFF NFE2 MAFK NFE2L2 ELF3 CEBPB HLF CEBPG KRTAP16-1 ENSG00000234477 KRTAP3-2 KRT34 KRT36 CNP piR-31534-287 KRTAP9-7 KRTAP29-1 lnc-KRTAP9-7-5
GH17J041283 Enhancer 0.2 Ensembl 0.4 +18.3 18250 2 KRTAP16-1 KRT38 ENSG00000234477 KRTAP3-2 KRT31 KRT36 TOP2A piR-31534-287 KRTAP9-7 KRTAP29-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP29-1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP29-1

Genomic Locations for KRTAP29-1 Gene

Latest Assembly
chr17:41,301,826-41,302,851
(GRCh38/hg38)
Size:
1,026 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,458,078-39,459,103
(GRCh37/hg19 by Entrez Gene)
Size:
1,026 bases
Orientation:
Minus strand

chr17:39,458,078-39,459,103
(GRCh37/hg19 by Ensembl)
Size:
1,026 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):4,259-5,284 (+)
  • chr17(ALT_REF_LOCI_2):4,259-5,284 (+)

Genomic View for KRTAP29-1 Gene

Genes around KRTAP29-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP29-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP29-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP29-1 Gene

Proteins for KRTAP29-1 Gene

  • Protein details for KRTAP29-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MX34-KR291_HUMAN
    Recommended name:
    Keratin-associated protein 29-1
    Protein Accession:
    A8MX34

    Protein attributes for KRTAP29-1 Gene

    Size:
    341 amino acids
    Molecular mass:
    35211 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KRTAP29-1 Gene

Post-translational modifications for KRTAP29-1 Gene

No Post-translational modifications

Other Protein References for KRTAP29-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP29-1 Gene

Domains & Families for KRTAP29-1 Gene

Gene Families for KRTAP29-1 Gene

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

Protein Domains for KRTAP29-1 Gene

InterPro:

Suggested Antigen Peptide Sequences for KRTAP29-1 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 29.2 (KR291_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A8MX34

UniProtKB/Swiss-Prot:

KR291_HUMAN :
  • Belongs to the KRTAP type 10 family.
Family:
  • Belongs to the KRTAP type 10 family.
genes like me logo Genes that share domains with KRTAP29-1: view

Function for KRTAP29-1 Gene

Phenotypes From GWAS Catalog for KRTAP29-1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP29-1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP29-1 Gene

Localization for KRTAP29-1 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 KRTAP29-1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
extracellular 1
nucleus 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for KRTAP29-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP29-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP29-1 Gene

Pathways & Interactions for KRTAP29-1 Gene

PathCards logo

SuperPathways for KRTAP29-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP29-1: view

Pathways by source for KRTAP29-1 Gene

2 Reactome pathways for KRTAP29-1 Gene

Interacting Proteins for KRTAP29-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP29-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP29-1: view

No data available for SIGNOR curated interactions for KRTAP29-1 Gene

Drugs & Compounds for KRTAP29-1 Gene

No Compound Related Data Available

Transcripts for KRTAP29-1 Gene

mRNA/cDNA for KRTAP29-1 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP29-1

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP29-1 Gene

No ASD Table

Relevant External Links for KRTAP29-1 Gene

GeneLoc Exon Structure for
KRTAP29-1

Expression for KRTAP29-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP29-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP29-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x41.4) and Skin - Sun Exposed (Lower leg) (x5.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP29-1

SOURCE GeneReport for Unigene cluster for KRTAP29-1 Gene:

Hs.744833
genes like me logo Genes that share expression patterns with KRTAP29-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP29-1 Gene

Orthologs for KRTAP29-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP29-1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP29-1 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC101907983 29
  • 80.49 (n)
Rat
(Rattus norvegicus)
Mammalia LOC102554016 29
  • 71.24 (n)
Mouse
(Mus musculus)
Mammalia Krtap29-1 30
  • 44 (a)
OneToOne
Species where no ortholog for KRTAP29-1 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)
  • Dog (Canis familiaris)
  • 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 KRTAP29-1 Gene

ENSEMBL:
Gene Tree for KRTAP29-1 (if available)
TreeFam:
Gene Tree for KRTAP29-1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP29-1: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP29-1

Paralogs for KRTAP29-1 Gene

No data available for Paralogs for KRTAP29-1 Gene

Variants for KRTAP29-1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP29-1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRTAP29-1 Gene

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
esv3640583 CNV loss 21293372
nsv1055426 CNV gain 25217958
nsv1146669 OTHER inversion 26484159

Variation tolerance for KRTAP29-1 Gene

Gene Damage Index Score: 13.49; 95.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP29-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP29-1
Leiden Open Variation Database (LOVD)
KRTAP29-1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP29-1 Gene

Disorders for KRTAP29-1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP29-1 Gene - From: COP

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP29-1

genes like me logo Genes that share disorders with KRTAP29-1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP29-1 Gene

Publications for KRTAP29-1 Gene

  1. Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair. (PMID: 18721477) Wu DD … Zhang YP (BMC evolutionary biology 2008) 2 3
  2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4

Products for KRTAP29-1 Gene

Sources for KRTAP29-1 Gene