KRTAP21-1 Gene (Protein Coding)

Keratin Associated Protein 21-1

GC21M030754
GIFtS:
20
See more...

Aliases for KRTAP21-1 Gene

Aliases for KRTAP21-1 Gene

  • Keratin Associated Protein 21-1 2 3 5
  • KAP21.1 2 3 4
  • Keratin-Associated Protein 21-1 3 4
  • KRTAP21-1 5

External Ids for KRTAP21-1 Gene

Previous GeneCards Identifiers for KRTAP21-1 Gene

  • GC00U906264
  • GC21U900112
  • GC21M031047
  • GC21M031049
  • GC21M032127
  • GC21M017536

Summaries for KRTAP21-1 Gene

GeneCards Summary for KRTAP21-1 Gene

KRTAP21-1 (Keratin Associated Protein 21-1) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is LOC647264.

UniProtKB/Swiss-Prot Summary for KRTAP21-1 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 KRTAP21-1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP21-1 Gene

Genomics for KRTAP21-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRTAP21-1 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
GH21J030813 Enhancer 0.2 Ensembl 0.2 -57.8 -57773 0.4 KRTAP8-1 KRTAP8-3P KRTAP21-1 lnc-KRTAP19-8-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP21-1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP21-1

Top Transcription factor binding sites by QIAGEN in the KRTAP21-1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • deltaCREB
  • GATA-1
  • HFH-1
  • HNF-3beta
  • Lmo2
  • MyoD
  • SRF
  • SRF (504 AA)

Genomic Locations for KRTAP21-1 Gene

Latest Assembly
chr21:30,755,015-30,755,428
(GRCh38/hg38)
Size:
414 bases
Orientation:
Minus strand

Previous Assembly
chr21:32,127,333-32,127,746
(GRCh37/hg19 by Entrez Gene)
Size:
414 bases
Orientation:
Minus strand

chr21:32,127,439-32,127,746
(GRCh37/hg19 by Ensembl)
Size:
308 bases
Orientation:
Minus strand

Genomic View for KRTAP21-1 Gene

Genes around KRTAP21-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP21-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP21-1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRTAP21-1 Gene

Proteins for KRTAP21-1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for KRTAP21-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI58-KR211_HUMAN
    Recommended name:
    Keratin-associated protein 21-1
    Protein Accession:
    Q3LI58

    Protein attributes for KRTAP21-1 Gene

    Size:
    79 amino acids
    Molecular mass:
    7937 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP21-1 Gene

Post-translational modifications for KRTAP21-1 Gene

No Post-translational modifications

Other Protein References for KRTAP21-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP21-1 Gene

Domains & Families for KRTAP21-1 Gene

Gene Families for KRTAP21-1 Gene

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

Suggested Antigen Peptide Sequences for KRTAP21-1 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 21-1 (KR211_HUMAN)
  • KRTAP21-1 protein (Q3ZCR5_HUMAN)
genes like me logo Genes that share domains with KRTAP21-1: view

No data available for Protein Domains , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KRTAP21-1 Gene

Function for KRTAP21-1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for KRTAP21-1 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 KRTAP21-1 Gene

GenomeRNAi human phenotypes for KRTAP21-1:
genes like me logo Genes that share phenotypes with KRTAP21-1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP21-1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP21-1 Gene

Localization for KRTAP21-1 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 KRTAP21-1 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 2

Gene Ontology (GO) - Cellular Components for KRTAP21-1 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 KRTAP21-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP21-1 Gene

Pathways & Interactions for KRTAP21-1 Gene

PathCards logo

SuperPathways for KRTAP21-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
Developmental Biology
.51
2 Keratinization
Keratinization
.33
genes like me logo Genes that share pathways with KRTAP21-1: view

Pathways by source for KRTAP21-1 Gene

2 Reactome pathways for KRTAP21-1 Gene

Interacting Proteins for KRTAP21-1 Gene

Selected Interacting proteins: Q3LI58-KR211_HUMAN for KRTAP21-1 Gene via IID

GPS-Prot Interaction Network for KRTAP21-1

Gene Ontology (GO) - Biological Process for KRTAP21-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IBA 21873635
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP21-1: view

No data available for SIGNOR curated interactions for KRTAP21-1 Gene

Drugs & Compounds for KRTAP21-1 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for KRTAP21-1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for KRTAP21-1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
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 KRTAP21-1

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP21-1 Gene

No ASD Table

Relevant External Links for KRTAP21-1 Gene

GeneLoc Exon Structure for
KRTAP21-1

Expression for KRTAP21-1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP21-1 Gene

mRNA expression in normal human tissues for KRTAP21-1 Gene
mRNA expression by GTEx for KRTAP21-1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP21-1

SOURCE GeneReport for Unigene cluster for KRTAP21-1 Gene:

Hs.539723

Evidence on tissue expression from TISSUES for KRTAP21-1 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP21-1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 KRTAP21-1 Gene

Orthologs for KRTAP21-1 Gene

Evolution for KRTAP21-1 Gene

ENSEMBL:
Gene Tree for KRTAP21-1 (if available)
TreeFam:
Gene Tree for KRTAP21-1 (if available)
Alliance of Genome Resources:
Additional Orthologs for KRTAP21-1

No data available for Orthologs for KRTAP21-1 Gene

Paralogs for KRTAP21-1 Gene

Paralogs for KRTAP21-1 Gene

(3) SIMAP similar genes for KRTAP21-1 Gene using alignment to 2 proteins:

  • KR211_HUMAN
  • Q3ZCR5_HUMAN
genes like me logo Genes that share paralogs with KRTAP21-1: view

Variants for KRTAP21-1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP21-1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs757919425 A breast cancer sample p.Gly15Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP21-1 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 KRTAP21-1 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
nsv962670 CNV duplication 23825009

Variation tolerance for KRTAP21-1 Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP21-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP21-1
Leiden Open Variation Database (LOVD)
KRTAP21-1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP21-1 Gene

Disorders for KRTAP21-1 Gene

Additional Disease Information for KRTAP21-1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for KRTAP21-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP21-1 Gene

Publications for KRTAP21-1 Gene

  1. 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
  2. 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
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjöblom T … Velculescu VE (Science (New York, N.Y.) 2006) 4
  5. 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

ExternalLinks

View latest publications for KRTAP21-1 gene in Mastermind

Products for KRTAP21-1 Gene

Sources for KRTAP21-1 Gene