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KRTAP7-1 Gene(Protein Coding)

Keratin Associated Protein 7-1 (Gene/Pseudogene)

GCID:
GC21M030830
GIFtS:
25
Genes Participants
UDN Logo

Aliases for KRTAP7-1 Gene

Aliases for KRTAP7-1 Gene

  • Keratin Associated Protein 7-1 (Gene/Pseudogene) 2 3 5
  • High Tyrosine-Glycine Keratin-Associated Protein 7.1 3 4
  • KAP7.1 3 4
  • Keratin Associated Protein 7-1 2
  • Keratin-Associated Protein 7-1 3
  • KRTAP7.1 4

External Ids for KRTAP7-1 Gene

Previous GeneCards Identifiers for KRTAP7-1 Gene

  • GC21U900010
  • GC21M031122
  • GC21M032201
  • GC21M017610

Summaries for KRTAP7-1 Gene

GeneCards Summary for KRTAP7-1 Gene

KRTAP7-1 (Keratin Associated Protein 7-1 (Gene/Pseudogene)) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP7-1 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Additional gene information for KRTAP7-1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP7-1 Gene

Genomics for KRTAP7-1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KRTAP7-1 Gene

Promoters and enhancers for KRTAP7-1 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
GH21I030829 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 KRTAP7-1 KRTAP11-1 KRTAP8-1 GC21M030858 LOC105372776
GH21I030813 Promoter 0.5 EPDnew 0.4 +16.5 16465 0.1 KRTAP8-1 KRTAP7-1 LOC105372776
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP7-1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP7-1 gene promoter:

Genomic Locations for KRTAP7-1 Gene

Genomic Locations for KRTAP7-1 Gene
chr21:30,829,039-30,829,759
(GRCh38/hg38)
Size:
721 bases
Orientation:
Minus strand
chr21:32,201,357-32,202,078
(GRCh37/hg19)

Genomic View for KRTAP7-1 Gene

Genes around KRTAP7-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP7-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP7-1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRTAP7-1 Gene

Proteins for KRTAP7-1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KRTAP7-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUC3-KRA71_HUMAN
    Recommended name:
    Keratin-associated protein 7-1
    Protein Accession:
    Q8IUC3
    Secondary Accessions:
    • Q3LI56

    Protein attributes for KRTAP7-1 Gene

    Size:
    87 amino acids
    Molecular mass:
    9288 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP7-1 Gene

Protein Expression for KRTAP7-1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KRTAP7-1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP7-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP7-1 Gene

Domains & Families for KRTAP7-1 Gene

Gene Families for KRTAP7-1 Gene

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

Protein Domains for KRTAP7-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP7-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUC3

UniProtKB/Swiss-Prot:

KRA71_HUMAN :
  • Belongs to the KRTAP type 7 family.
Family:
  • Belongs to the KRTAP type 7 family.
genes like me logo Genes that share domains with KRTAP7-1: view

Function for KRTAP7-1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KRTAP7-1 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Phenotypes From GWAS Catalog for KRTAP7-1 Gene

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP7-1 Gene

Localization for KRTAP7-1 Gene

Gene Ontology (GO) - Cellular Components for KRTAP7-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP7-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP7-1 Gene

Pathways & Interactions for KRTAP7-1 Gene

SuperPathways for KRTAP7-1 Gene

PathCards logo More details on SuperPathways for KRTAP7-1
No Data Available

Interacting Proteins for KRTAP7-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP7-1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP7-1 Gene

Drugs & Compounds for KRTAP7-1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KRTAP7-1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KRTAP7-1 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP7-1 Gene

No ASD Table

Relevant External Links for KRTAP7-1 Gene

GeneLoc Exon Structure for
KRTAP7-1
ECgene alternative splicing isoforms for
KRTAP7-1

Expression for KRTAP7-1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP7-1 Gene

mRNA expression in normal human tissues for KRTAP7-1 Gene
mRNA expression by BioGPS for KRTAP7-1 Gene

Protein differential expression in normal tissues from HIPED for KRTAP7-1 Gene

This gene is overexpressed in Hair follicle (65.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP7-1 Gene



Protein tissue co-expression partners for KRTAP7-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP7-1 Gene:

Hs.407656

mRNA Expression by UniProt/SwissProt for KRTAP7-1 Gene:

Q8IUC3-KRA71_HUMAN
Tissue specificity: Expressed in the upper portion of the hair cortex.
genes like me logo Genes that share expression patterns with KRTAP7-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP7-1 Gene

Orthologs for KRTAP7-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP7-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KRTAP7-1 33
  • 98.85 (n)
cow
(Bos Taurus)
 Mammalia KRTAP7-1 33
  • 88.51 (n)
dog
(Canis familiaris)
 Mammalia KRTAP7-1 33
  • 88.51 (n)
mouse
(Mus musculus)
 Mammalia Krtap7-1 33 16
  • 82.95 (n)
rat
(Rattus norvegicus)
 Mammalia Krtap7-1 33
  • 82.95 (n)
Species where no ortholog for KRTAP7-1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRTAP7-1 Gene

ENSEMBL:
Gene Tree for KRTAP7-1 (if available)
TreeFam:
Gene Tree for KRTAP7-1 (if available)

Paralogs for KRTAP7-1 Gene

No data available for Paralogs for KRTAP7-1 Gene

Variants for KRTAP7-1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for KRTAP7-1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000030313 -- 30,828,984(-) T/C downstream_transcript_variant
rs1002399460 -- 30,830,626(-) G/A upstream_transcript_variant
rs1004800276 -- 30,828,715(-) C/T downstream_transcript_variant
rs1005507473 -- 30,831,466(-) G/A upstream_transcript_variant
rs1005602190 -- 30,830,967(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP7-1 Gene

Variant ID Type Subtype PubMed ID
dgv4424n100 CNV gain 25217958
esv2762106 CNV gain 21179565
nsv1057467 CNV gain 25217958
nsv459237 CNV gain 19166990
nsv587359 CNV gain 21841781
nsv834077 CNV gain 17160897

Additional Variant Information for KRTAP7-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP7-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for KRTAP7-1 Gene

Disorders for KRTAP7-1 Gene

Additional Disease Information for KRTAP7-1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KRTAP7-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP7-1 Gene

Publications for KRTAP7-1 Gene

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers MA … Schweizer J (The Journal of biological chemistry 2002) 2 3 4 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  3. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M … Deary IJ (Biological psychology 2011) 44 58
  4. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PMID: 20210993) Zhang ZD … Gerstein M (Genome biology 2010) 3 58

Products for KRTAP7-1 Gene

Sources for KRTAP7-1 Gene

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