KRTAP5-1 keratin associated protein 5-1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRTAP5-1provided by HGNC
Official Full Name: keratin associated protein 5-1provided by HGNC
Primary source: HGNC:HGNC:23596
See related: Ensembl:ENSG00000205869 MIM:148022; AllianceGenome:HGNC:23596
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KRN1L; KRTAP5.1
Summary: Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 11p15.5

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (1584342..1585283, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (1605572..1606513, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel mutation designated as E477K of K1 was identified in epidermolytic hyperkeratosis.
Title: Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
KAP5 gene expression in human hair follicles is regulated by Runx1
Title: Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-3361 (e-PCR)
- UniSTS:85773

D11S922 (e-PCR)
- UniSTS:54365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in intermediate filament	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: keratin-associated protein 5-1

Names: keratin-associated protein 5.1; ultrahigh sulfur keratin-associated protein 5.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.