KRT75 keratin 75 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT75provided by HGNC
Official Full Name: keratin 75provided by HGNC
Primary source: HGNC:HGNC:24431
See related: Ensembl:ENSG00000170454 MIM:609025; AllianceGenome:HGNC:24431
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: K75; PFB; K6HF; KB18; CK-75; hK6hf
Summary: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52424070..52434371, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52388336..52398636, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52817854..52828155, 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?

Studies show that mutation in epithelial hair keratin KRT75 leads to a skin condition called pseudofollicularis barbae. Carriers of this mutation have an altered enamel structure and mechanical properties leading to much higher prevalence of caries. [review]
Title: Keratins as components of the enamel organic matrix.
The expression of CK5/6 and of P63 suggests a squamous differentiation including in the basaloid thyroid lymphoepithelial complexes
Title: Cytokeratin 5/6 and P63 immunophenotype of thyroid lymphoepithelial complexes.
CK5/6 have roles in biologically aggressive tumors likely to display resistance to trastuzumab ab initio in women diagnosed with HER2+ cancer
Title: Cytokeratin 5/6 fingerprinting in HER2-positive tumors identifies a poor prognosis and trastuzumab-resistant basal-HER2 subtype of breast cancer.
There were differences between CK5/6, p63,CK34betaE12 and TTF-1 expression with tumor differentiation in squamous cell carcinoma or adenocarcinomas
Title: Analysis of clinical characteristics and differential diagnosis of the lung biopsy specimens in 99 adenocarcinoma cases and 111 squamous cell carcinoma cases: utility of an immunohistochemical panel containing CK5/6, CK34βE12, p63, CK7 and TTF-1.
Analysis of teeth from individuals carrying the KRT75(A161T) variant revealed an altered enamel structure and a marked reduction of enamel hardness, suggesting that a functional keratin network is required for the mechanical stability of tooth enamel.
Title: Hair keratin mutations in tooth enamel increase dental decay risk.
we observed a possible association between CK5/6 expression in the primary tumor and multiple versus solitary breast carcinoma brain metastasis
Title: Breast carcinoma with brain metastases: clinical analysis and immunoprofile on tissue microarrays.
K75 expression is closely associated with the process of desquamation of the inner root sheath of hair follicles.
Title: Cytokeratin 75 expression in central, centrifugal, cicatricial alopecia--new observations in normal and diseased hair follicles.
Positive staining for CK5/6 or CK17 was associated with a worse prognosis, high tumor grade and positive axillary lymph nodes.
Title: Basal cytokeratin expression in relation to immunohistochemical and clinical characterization in breast cancer patients with triple negative phenotype.
Cytokeratin 5/6 can be a useful adjunct in cases with ductal hyperplasia but not in columnar cell lesions, on breast core biopsies
Title: The role of cytokeratin 5/6 as an adjunct diagnostic tool in breast core needle biopsies.

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

Associated conditions

Description	Tests
Pseudofolliculitis barbae MedGen: C0549150 OMIM: 612318 GeneReviews: Not available	not available

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-146541 (e-PCR)
- UniSTS:172632

K6HF__6497 (e-PCR)
- UniSTS:464003

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
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 cornified envelope	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intermediate filament	IDA Inferred from Direct Assay 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 75

Names: cytokeratin type II; cytokeratin-75; keratin 75, type II; keratin-6 hair follicle; type II keratin-18; type II keratin-K6hf; type-II keratin Kb18

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_008403.1 RefSeqGene

Range

4956..15257

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004693.3 → NP_004684.2 keratin, type II cytoskeletal 75

See identical proteins and their annotated locations for NP_004684.2

Status: REVIEWED

Source sequence(s)

AC055736, AK225962, Y17282

Consensus CDS

CCDS8827.1

UniProtKB/Swiss-Prot

B4DQU4, O95678, Q9NSA9

Related

ENSP00000252245.5, ENST00000252245.6

Conserved Domains (3) summary

pfam00038
Location:148 → 461

Filament; Intermediate filament protein

pfam16208
Location:16 → 145

Keratin_2_head; Keratin type II head

cl01888
Location:374 → 434

DUF883; Bacterial protein of unknown function (DUF883)