KRT79 keratin 79 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT79provided by HGNC
Official Full Name: keratin 79provided by HGNC
Primary source: HGNC:HGNC:28930
See related: Ensembl:ENSG00000185640 MIM:611160; AllianceGenome:HGNC:28930
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: K6L; KRT6L
Summary: Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
Expression: Biased expression in skin (RPKM 6.3), fat (RPKM 0.8) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52821408..52834311, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52785865..52798767, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53215192..53228095, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

migratory keratinocytes express keratin 79 and stream out of the hair germ and into the epidermis prior to lumen formation in the embryo.
Title: Keratin 79 identifies a novel population of migratory epithelial cells that initiates hair canal morphogenesis and regeneration.

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: keratin, type II cytoskeletal 79

Names: CK-79; K79; cytokeratin-79; keratin 6L; keratin 79, type II; type-II keratin Kb38

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.