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Aliases for KRTAP6-1 Gene

Aliases for KRTAP6-1 Gene

  • Keratin Associated Protein 6-1 2 3 5
  • C21orf103 3 4
  • KAP6.1 3 4
  • Keratin-Associated Protein 6-1 3

External Ids for KRTAP6-1 Gene

Previous GeneCards Identifiers for KRTAP6-1 Gene

  • GC21U900016
  • GC21M030907
  • GC21M030908
  • GC21M031985
  • GC21M017394

Summaries for KRTAP6-1 Gene

GeneCards Summary for KRTAP6-1 Gene

KRTAP6-1 (Keratin Associated Protein 6-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP6-1 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 KRTAP6-1 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 KRTAP6-1 Gene

Genomics for KRTAP6-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP6-1 Gene

Promoters and enhancers for KRTAP6-1 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
GH21I030613 Promoter 0.5 EPDnew 550.8 -0.1 -50 0.1 KRTAP6-1 KRTAP20-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP6-1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP6-1 gene promoter:

Genomic Locations for KRTAP6-1 Gene

Genomic Locations for KRTAP6-1 Gene
chr21:30,613,431-30,613,930
(GRCh38/hg38)
Size:
500 bases
Orientation:
Minus strand
chr21:31,985,750-31,986,249
(GRCh37/hg19)

Genomic View for KRTAP6-1 Gene

Genes around KRTAP6-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP6-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP6-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP6-1 Gene

Proteins for KRTAP6-1 Gene

  • Protein details for KRTAP6-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI64-KRA61_HUMAN
    Recommended name:
    Keratin-associated protein 6-1
    Protein Accession:
    Q3LI64

    Protein attributes for KRTAP6-1 Gene

    Size:
    71 amino acids
    Molecular mass:
    7279 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP6-1 Gene

Post-translational modifications for KRTAP6-1 Gene

No Post-translational modifications

Other Protein References for KRTAP6-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP6-1 Gene

Domains & Families for KRTAP6-1 Gene

Gene Families for KRTAP6-1 Gene

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

Protein Domains for KRTAP6-1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP6-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LI64

UniProtKB/Swiss-Prot:

KRA61_HUMAN :
  • Belongs to the KRTAP type 6 family.
Family:
  • Belongs to the KRTAP type 6 family.
genes like me logo Genes that share domains with KRTAP6-1: view

Function for KRTAP6-1 Gene

Molecular function for KRTAP6-1 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 for KRTAP6-1 Gene

GenomeRNAi human phenotypes for KRTAP6-1:
genes like me logo Genes that share phenotypes with KRTAP6-1: view

miRNA for KRTAP6-1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP6-1 Gene

Localization for KRTAP6-1 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 KRTAP6-1 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 3
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP6-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP6-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP6-1 Gene

Pathways & Interactions for KRTAP6-1 Gene

SuperPathways for KRTAP6-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP6-1: view

Pathways by source for KRTAP6-1 Gene

2 Reactome pathways for KRTAP6-1 Gene

Interacting Proteins for KRTAP6-1 Gene

Selected Interacting proteins: Q3LI64-KRA61_HUMAN for KRTAP6-1 Gene via IID UniProtKB

Gene Ontology (GO) - Biological Process for KRTAP6-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP6-1: view

No data available for SIGNOR curated interactions for KRTAP6-1 Gene

Drugs & Compounds for KRTAP6-1 Gene

No Compound Related Data Available

Transcripts for KRTAP6-1 Gene

mRNA/cDNA for KRTAP6-1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP6-1 Gene

No ASD Table

Relevant External Links for KRTAP6-1 Gene

GeneLoc Exon Structure for
KRTAP6-1
ECgene alternative splicing isoforms for
KRTAP6-1

Expression for KRTAP6-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP6-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP6-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.5) and Skin - Sun Exposed (Lower leg) (x8.2).

SOURCE GeneReport for Unigene cluster for KRTAP6-1 Gene:

Hs.553689

Evidence on tissue expression from TISSUES for KRTAP6-1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with KRTAP6-1: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP6-1 Gene

Orthologs for KRTAP6-1 Gene

Evolution for KRTAP6-1 Gene

ENSEMBL:
Gene Tree for KRTAP6-1 (if available)
TreeFam:
Gene Tree for KRTAP6-1 (if available)

No data available for Orthologs for KRTAP6-1 Gene

Paralogs for KRTAP6-1 Gene

No data available for Paralogs for KRTAP6-1 Gene

Variants for KRTAP6-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP6-1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1001092125 -- 30,615,888(-) A/T upstream_transcript_variant
rs1002741151 -- 30,615,841(-) G/A upstream_transcript_variant
rs1002874265 -- 30,613,998(-) G/A upstream_transcript_variant
rs1004373699 -- 30,613,921(-) G/A upstream_transcript_variant
rs1006093814 -- 30,615,170(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP6-1 Gene

Variant ID Type Subtype PubMed ID
esv2762105 CNV gain 21179565
esv3646838 CNV loss 21293372
nsv1057467 CNV gain 25217958
nsv587354 CNV gain 21841781

Variation tolerance for KRTAP6-1 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.11; 61.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP6-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP6-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP6-1 Gene

Disorders for KRTAP6-1 Gene

Additional Disease Information for KRTAP6-1

No disorders were found for KRTAP6-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP6-1 Gene

Publications for KRTAP6-1 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 58
  2. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PMID: 16780588) Hu YH … Janitz M (BMC genomics 2006) 3 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for KRTAP6-1 Gene

Sources for KRTAP6-1 Gene

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