KRTAP5-1 Gene

HGNC Family Keratin associated proteins (KRTAP)
Name keratin associated protein 5-1
Description Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The keratin‐associated protein KRTAP5‑1 is a member of the ultrahigh‐sulfur KAP family that plays an integral role in the formation of the hair fiber cuticle. Immunolocalization studies using transmission electron microscopy with immunogold labeling have revealed that KRTAP5‑1, along with related KAPs, is incorporated into the developing exocuticle and a‑layer of hair cuticle cells. This specific localization suggests that KRTAP5‑1 contributes to the establishment of the fiber cuticle’s barrier properties, distinct from cornified envelope proteins such as involucrin and loricrin."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In comparative expression analyses of the KAP5 gene family, differential mRNA levels were observed among family members in hair follicles. Although KRTAP5‑1 transcripts appear at lower levels compared to other family members (such as KAP5.4 and KAP5.5), the timing and spatial distribution of its expression correlate with follicle depth and type. This observation implies that even at lower abundance, KRTAP5‑1 likely supports the specialized structural differentiation of hair cuticle cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, mapping studies of human hair cuticle ultrahigh‐sulfur KAP genes have shown that these genes are clustered within distinct chromosomal regions, underscoring an organized genomic architecture for cuticle formation. Such clustering suggests that KRTAP5‑1 is part of a coordinated gene family that collectively contributes to hair fiber structure."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, emerging insights into mRNA splicing and intron retention mechanisms indicate that alternative processing events could provide an additional layer of regulation over genes like KRTAP5‑1. Although these studies on intron fate are not exclusively focused on KRTAP5‑1, they highlight the potential for modulation of protein diversity and temporal/spatial expression in hair-related genes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies support the notion that KRTAP5‑1 functions as a structural protein essential for the formation and integrity of the hair cuticle, with its regulated expression and genomic organization contributing to the overall complexity of hair fiber differentiation.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ln Jones, Ge Rogers, N Rufaut, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Location of Keratin-associated Proteins in Developing Fiber Cuticle Cells using Immunoelectron Microscopy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Trichology (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4103/0974-7753.77512"}], "href": "https://doi.org/10.4103/0974-7753.77512"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21712910"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21712910"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "B J Jenkins, B C Powell "}, {"type": "b", "children": [{"type": "t", "text": "Differential expression of genes encoding a cysteine-rich keratin family in the hair cuticle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (1994)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/1523-1747.ep12394770"}], "href": "https://doi.org/10.1111/1523-1747.ep12394770"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "7521375"}], "href": "https://pubmed.ncbi.nlm.nih.gov/7521375"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "P J MacKinnon, B C Powell, G E Rogers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mamm Genome (1991)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF00350846"}], "href": "https://doi.org/10.1007/BF00350846"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "1724400"}], "href": "https://pubmed.ncbi.nlm.nih.gov/1724400"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Florent Hubé, Claire Francastel "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian introns: when the junk generates molecular diversity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms16034429"}], "href": "https://doi.org/10.3390/ijms16034429"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25710723"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25710723"}]}]}]}
Synonyms KRN1L, KRTAP5.1
Proteins KRA51_HUMAN
NCBI Gene ID 387264
API
Download Associations
Predicted Functions View KRTAP5-1's ARCHS4 Predicted Functions.
Co-expressed Genes View KRTAP5-1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View KRTAP5-1's ARCHS4 Predicted Functions.

Functional Associations

KRTAP5-1 has 1,763 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 51 datasets.

Click the + buttons to view associations for KRTAP5-1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of KRTAP5-1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KRTAP5-1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of KRTAP5-1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of KRTAP5-1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of KRTAP5-1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of KRTAP5-1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of KRTAP5-1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of KRTAP5-1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of KRTAP5-1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing KRTAP5-1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with KRTAP5-1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with KRTAP5-1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by KRTAP5-1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with KRTAP5-1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with KRTAP5-1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at KRTAP5-1 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of KRTAP5-1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of KRTAP5-1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing KRTAP5-1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with KRTAP5-1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing KRTAP5-1 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of KRTAP5-1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of KRTAP5-1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of KRTAP5-1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GO Cellular Component Annotations 2015 cellular components containing KRTAP5-1 protein from the curated GO Cellular Component Annotations 2015 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of KRTAP5-1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KRTAP5-1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of KRTAP5-1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with KRTAP5-1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of KRTAP5-1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of KRTAP5-1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KRTAP5-1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for KRTAP5-1 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of KRTAP5-1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of KRTAP5-1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of KRTAP5-1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of KRTAP5-1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain KRTAP5-1 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of KRTAP5-1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
Reactome Pathways 2024 pathways involving KRTAP5-1 protein from the Reactome Pathways 2024 dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at KRTAP5-1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of KRTAP5-1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of KRTAP5-1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of KRTAP5-1 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of KRTAP5-1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of KRTAP5-1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of KRTAP5-1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KRTAP5-1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with KRTAP5-1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with KRTAP5-1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving KRTAP5-1 protein from the WikiPathways Pathways 2024 dataset.