KRT25 keratin 25 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT25provided by HGNC
Official Full Name: keratin 25provided by HGNC
Primary source: HGNC:HGNC:30839
See related: Ensembl:ENSG00000204897 MIM:616646; AllianceGenome:HGNC:30839
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: ARWH3; KRT25A; KRT24IRS1
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, Jul 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40748021..40755542, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41612350..41619857, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38904273..38911583, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.
Title: A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.
Study reports a Chinese autosomal dominant woolly hair/hypotrichosis pedigree that results from a heterozygous nonsynonymous variant in KRT25 and conclude that mutation in KRT25 affects the stability of the cytoskeleton and hypothesize that this is how it affects hair in woolly hair syndromes.
Title: A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.
KRT25 is involved in human hair abnormality, and is consistent with the curled, fragile hair found in mice with Krt25 mutations.
Title: A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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

Associated conditions

Description	Tests
Wooly hair, autosomal recessive 3 MedGen: C4225214 OMIM: 616760 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:484323

G62214 (e-PCR)
- UniSTS:146686

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein heterodimerization activity	IMP Inferred from Mutant Phenotype 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 hair cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in hair follicle morphogenesis	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 keratin filament	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: keratin, type I cytoskeletal 25

Names: CK-25; K25; K25A; cytokeratin-25; keratin 25, type I; keratin-25A; type I inner root sheath specific keratin 25 irs1; type I inner root sheath-specific keratin-K25irs1

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_012414.1 RefSeqGene

Range

5002..12312

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_181534.4 → NP_853512.1 keratin, type I cytoskeletal 25

See identical proteins and their annotated locations for NP_853512.1

Status: REVIEWED

Source sequence(s)

AJ564204, AK129503

Consensus CDS

CCDS11373.1

UniProtKB/Swiss-Prot

Q7Z3Z0

UniProtKB/TrEMBL

Q6ZPD6

Related

ENSP00000310573.4, ENST00000312150.5

Conserved Domains (2) summary

pfam00038
Location:78 → 391

Filament; Intermediate filament protein

cl02488
Location:173 → 370

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

40748021..40755542 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524414.2 → XP_011522716.1 keratin, type I cytoskeletal 25 isoform X1

UniProtKB/TrEMBL

Q6ZPD6

Conserved Domains (2) summary

pfam00038
Location:76 → 389

Filament; Intermediate filament protein

cl02488
Location:171 → 368

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...