KRT24 keratin 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT24provided by HGNC
Official Full Name: keratin 24provided by HGNC
Primary source: HGNC:HGNC:18527
See related: Ensembl:ENSG00000167916 MIM:607742; AllianceGenome:HGNC:18527
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: K24; KA24; CK-24
Summary: This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Biased expression in esophagus (RPKM 10.1), colon (RPKM 5.1) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40697991..40703752, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41562356..41568083, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38854243..38860004, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Identification of cytokeratin24 as a tumor suppressor for the management of head and neck cancer.
Title: Identification of cytokeratin24 as a tumor suppressor for the management of head and neck cancer.
Relative gene expression analysis of human pterygium tissues and UV radiation-evoked gene expression patterns in corneal and conjunctival cells.
Title: Relative gene expression analysis of human pterygium tissues and UV radiation-evoked gene expression patterns in corneal and conjunctival cells.
the keratinocyte differentiation marker Keratin 24 is expressed in our dermo-epidermal skin substitutes in a normal pattern. This highlights that our bio-engineered skin analogs mature and reach homeostasis in an in vivo assay.
Title: The expression pattern of keratin 24 in tissue-engineered dermo-epidermal human skin substitutes in an in vivo model.
K24 may be suggested as a potential differentiation marker and anti-proliferative factor in the epidermis.
Title: Role of keratin 24 in human epidermal keratinocytes.
KRT24 encodes a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile; sequence aberrations were not found in Naegeli-Franceschetti-Jadassohn syndrome
Title: Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

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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

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-02) ClinGen Genome Curation Page Haploinsufficency Dosage sensitivity unlikely (Last evaluated 2021-02-02) ClinGen Genome Curation PagePubMed

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

NoName (e-PCR)
- UniSTS:483129

RH91917 (e-PCR)
- UniSTS:88203

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

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

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

General protein information

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Preferred Names: keratin, type I cytoskeletal 24

Names: cytokeratin-24; keratin 24, type I; type I keratin-24

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.

Genomic

NG_012417.1 RefSeqGene

Range

4999..10760

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_019016.3 → NP_061889.2 keratin, type I cytoskeletal 24

See identical proteins and their annotated locations for NP_061889.2

Status: REVIEWED

Description

Transcript Variant: This variant (1, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform 1.

Source sequence(s)

AC090283, AK000268, BC111968

Consensus CDS

CCDS11372.1

UniProtKB/Swiss-Prot

Q2M2I5, Q9NXG7

Related

ENSP00000264651.2, ENST00000264651.3

Conserved Domains (1) summary

pfam00038
Location:140 → 452

Filament; Intermediate filament protein

RNA

NR_178196.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant (1, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CP068261