KRT13 keratin 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT13provided by HGNC
Official Full Name: keratin 13provided by HGNC
Primary source: HGNC:HGNC:6415
See related: Ensembl:ENSG00000171401 MIM:148065; AllianceGenome:HGNC:6415
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: K13; CK13; WSN2
Summary: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward esophagus (RPKM 15373.8) 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 (41500981..41505612, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42356534..42361165, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39657233..39661864, complement)

Chromosome 17 - NC_000017.11 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?

KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma.
Title: KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma.
KRT13 is upregulated in pancreatic cancer stem-like cells and associated with radioresistance.
Title: KRT13 is upregulated in pancreatic cancer stem-like cells and associated with radioresistance.
Cytokeratin 13 (CK13) expression in cancer: a tissue microarray study on 10,439 tumors.
Title: Cytokeratin 13 (CK13) expression in cancer: a tissue microarray study on 10,439 tumors.
KRT13 promotes stemness and drives metastasis in breast cancer through a plakoglobin/c-Myc signaling pathway.
Title: KRT13 promotes stemness and drives metastasis in breast cancer through a plakoglobin/c-Myc signaling pathway.
Combined loss of expression of involucrin and cytokeratin 13 is associated with poor prognosis in squamous cell carcinoma of mobile tongue.
Title: Combined loss of expression of involucrin and cytokeratin 13 is associated with poor prognosis in squamous cell carcinoma of mobile tongue.
Enhanced KRT13 gene expression bestows radiation resistance in squamous cell carcinoma cells.
Title: Enhanced KRT13 gene expression bestows radiation resistance in squamous cell carcinoma cells.
Oral white sponge nevus may manifest variable clinical features. The novel mutation found in the KRT13 gene is believed to add evidence for a mutational hotspot in the mucosal keratins
Title: Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.
this study reports that KRT13 plays a directive role in prostate cancer bone, brain, and soft tissue metastases
Title: Keratin 13 expression reprograms bone and brain metastases of human prostate cancer cells.
Keratin 13 gene is epigenetically suppressed during TGFB1-induced epithelial-mesenchymal transition in a human keratinocyte cell line.
Title: Keratin 13 gene is epigenetically suppressed during transforming growth factor-β1-induced epithelial-mesenchymal transition in a human keratinocyte cell line.
Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66).
Title: Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Associated conditions

Description	Tests
White sponge nevus 2 MedGen: C4014321 OMIM: 615785 GeneReviews: Not available	Compare labs

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:486681

D17S2048 (e-PCR)
- UniSTS:10822

NoName (e-PCR)
- UniSTS:495258

RH66395 (e-PCR)
- UniSTS:71398

RH18102 (e-PCR)
- UniSTS:68846

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 cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
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
involved_in regulation of translation in response to stress	ISS Inferred from Sequence or Structural Similarity 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 extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type I cytoskeletal 13

Names: CK-13; cytokeratin 13; keratin 13, type I

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_008406.2 RefSeqGene

Range

5000..9631

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002274.4 → NP_002265.3 keratin, type I cytoskeletal 13 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) utilizes an alternate splice site in the 3' coding region, which results in a frameshift and early stop codon, compared to transcript variant 1. The encoded isoform (b) is shorter, compared to isoform a.

Source sequence(s)

AC019349

Consensus CDS

CCDS11397.1

UniProtKB/TrEMBL

K7ERE3

Related

ENSP00000336604.3, ENST00000336861.7

Conserved Domains (1) summary

pfam00038
Location:103 → 415

Filament; Intermediate filament protein
NM_153490.3 → NP_705694.3 keratin, type I cytoskeletal 13 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC019349

Consensus CDS

CCDS11396.1

UniProtKB/Swiss-Prot

P13646, Q53G54, Q6AZK5, Q8N240

UniProtKB/TrEMBL

A8K2H9

Related

ENSP00000246635.3, ENST00000246635.8

Conserved Domains (1) summary

pfam00038
Location:103 → 415

Filament; Intermediate filament protein