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KRT81 keratin 81 [ Homo sapiens (human) ]

Gene ID: 3887, updated on 7-Apr-2024

Summary

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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

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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_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52645720-52646220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52646221-52646721 Neighboring gene keratin 87, pseudogene Neighboring gene keratin 88, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:52673861-52675060 Neighboring gene keratin 86 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52698416-52698916 Neighboring gene uncharacterized LOC124902935 Neighboring gene keratin 83

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8. Zhang K, et al. DNA Cell Biol, 2021 Oct. PMID 34591651
  2. Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness. Nanashima N, et al. Oncol Rep, 2017 May. PMID 28405679
  3. A genetic variation in microRNA target site of KRT81 gene is associated with survival in early-stage non-small-cell lung cancer. Lee SY, et al. Ann Oncol, 2015 Jun. PMID 25716425
  4. A miR-SNP of the KRT81 gene is associated with the prognosis of non-Hodgkin's lymphoma. Xie Y, et al. Gene, 2014 Apr 15. PMID 24530479
  5. Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV). Nishikawa J, et al. Int J Cancer, 2003 Nov 20. PMID 14520698

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8.
    Title: KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
    Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
  8. 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.
  9. 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.
  10. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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

  1. NG_008184.1 RefSeqGene

    Range
    4982..10603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  1. 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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52285913..52308624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52249832..52255457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14533.3 GenPept UniProtKB/Swiss-Prot:Q14533

Gene LinkOut

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