KRT81 keratin 81 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT81provided by HGNC
Official Full Name: keratin 81provided by HGNC
Primary source: HGNC:HGNC:6458
See related: Ensembl:ENSG00000205426 MIM:602153; AllianceGenome:HGNC:6458
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: HB1; K81; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1
Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. Some human genome assemblies (example T2T-CHM13) have a non-coding version of the gene due to the presence of a SNP that introduces a premature stop codon after codon 281. [provided by RefSeq, Jan 2024]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Biased expression in placenta (RPKM 1.1), salivary gland (RPKM 0.5) and 13 other tissues See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52285913..52308624, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52249832..52255457, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52679697..52685318, 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?

Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity.
Title: Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity.
KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8.
Title: KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8.
A Polymorphism at the microRNA Binding Site in the 3' Untranslated Region of KRT81 Is Associated with Breast Cancer.
Title: A Polymorphism at the microRNA Binding Site in the 3' Untranslated Region of KRT81 Is Associated with Breast Cancer.
analysis of KRT81 and HNF1A expression by IHC is a reliable way to identify biologically relevant subtypes of PDAC that could easily be integrated into common pathologic practice.
Title: Pancreatic Ductal Adenocarcinoma Subtyping Using the Biomarkers Hepatocyte Nuclear Factor-1A and Cytokeratin-81 Correlates with Outcome and Treatment Response.
Results show that full size KRT81 is expressed in normal breast epithelial cells and breast cancer cells, and indicate that KRT81 contributes to the migration and invasion of breast cancer cells.
Title: Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness.
The analysis of the KRT81rs3660G>C polymorphism may be useful to identify non-small cell lung cancer patients at high risk of a poor disease outcome.
Title: A genetic variation in microRNA target site of KRT81 gene is associated with survival in early-stage non-small-cell lung cancer.
Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
MiRNA-related single nucleotide polymorphism sites of KRT81 is associated with non-Hodgkin's lymphoma.
Title: A miR-SNP of the KRT81 gene is associated with the prognosis of non-Hodgkin's lymphoma.
Overall survival was significantly longer in multiple myeloma patients with KRT81 rs3660 C/C variant
Title: Impact of MiRSNPs on survival and progression in patients with multiple myeloma undergoing autologous stem cell transplantation.
KRT81 has emerged as a promising immunohistochemical marker for the identification of squamous cell lung carcinoma
Title: A dual role for KRT81: a miR-SNP associated with recurrence in non-small-cell lung cancer and a novel marker of squamous cell lung carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Beaded hair MedGen: C0546966 OMIM: 158000 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

RH121971 (e-PCR)
- UniSTS:95009

G64252 (e-PCR)
- UniSTS:166972

RH98291 (e-PCR)
- UniSTS:90714

RH17914 (e-PCR)
- UniSTS:28814

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

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 space	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 cuticular Hb1

Names: hair keratin K2.9; hard keratin, type II, 1; keratin 81, type II; keratin, hair, basic, 1; metastatic lymph node 137 gene protein; type II hair keratin Hb1; type-II keratin Kb21

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_008184.1 RefSeqGene

Range

4982..10603

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002281.4 → NP_002272.2 keratin, type II cuticular Hb1

See identical proteins and their annotated locations for NP_002272.2

Status: REVIEWED

Source sequence(s)

AC121757, X81420

Consensus CDS

CCDS31805.1

UniProtKB/Swiss-Prot

Q14533, Q14846, Q16274, Q17R48, Q8WU52, Q9BR74

UniProtKB/TrEMBL

A8K872, B4DN72

Related

ENSP00000369349.4, ENST00000327741.9

Conserved Domains (2) summary

pfam00038
Location:105 → 416

Filament; Intermediate filament protein

pfam16208
Location:1 → 102

Keratin_2_head; Keratin type II head

RNA

NR_190103.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

CP068266

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

52285913..52308624 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428838.1 → XP_047284794.1 keratin, type II cuticular Hb1 isoform X1

UniProtKB/Swiss-Prot

Q14533, Q14846, Q16274, Q17R48, Q8WU52, Q9BR74

Conserved Domains (2) summary

pfam00038
Location:105 → 416

Filament; Intermediate filament protein

pfam16208
Location:1 → 102

Keratin_2_head; Keratin type II head