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, KRTHB... See more...

Aliases for KRT81 Gene

Aliases for KRT81 Gene

  • Keratin 81 2 3 5
  • Keratin, Hair, Basic, 1 2 3 4
  • Metastatic Lymph Node 137 Gene Protein 3 4
  • Keratin, Type II Cuticular Hb1 3 4
  • Type II Hair Keratin Hb1 3 4
  • Type-II Keratin Kb21 3 4
  • Keratin 81, Type II 2 3
  • Hair Keratin K2.9 3 4
  • KRTHB1 3 4
  • MLN137 3 4
  • Hb-1 2 3
  • K81 3 4
  • Hard Keratin, Type II, 1 3
  • Hard Keratin Type II 1 2
  • Keratin-81 4
  • HHAKB2-1 3
  • MLN 137 4
  • GhHkb1 3
  • GhHKb1 4
  • KRT81 5
  • GhHb1 4
  • HB1 3

External Ids for KRT81 Gene

Previous HGNC Symbols for KRT81 Gene

  • KRTHB1

Previous GeneCards Identifiers for KRT81 Gene

  • GC12M050966
  • GC12M052679
  • GC12M049713

Summaries for KRT81 Gene

Entrez Gene Summary for KRT81 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT81 Gene

KRT81 (Keratin 81) is a Protein Coding gene. Diseases associated with KRT81 include Monilethrix and Hair Disease. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT83.

Gene Wiki entry for KRT81 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT81 Gene

Genomics for KRT81 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT81 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT81 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT81

Top Transcription factor binding sites by QIAGEN in the KRT81 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • c-Fos
  • c-Jun
  • HEN1
  • HSF1 (long)
  • HSF1short

Genomic Locations for KRT81 Gene

Latest Assembly
chr12:52,285,913-52,291,534
(GRCh38/hg38)
Size:
5,622 bases
Orientation:
Minus strand

Previous Assembly
chr12:52,679,697-52,685,318
(GRCh37/hg19 by Entrez Gene)
Size:
5,622 bases
Orientation:
Minus strand

chr12:52,679,697-52,685,318
(GRCh37/hg19 by Ensembl)
Size:
5,622 bases
Orientation:
Minus strand

Genomic View for KRT81 Gene

Genes around KRT81 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT81 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT81 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT81 Gene

Proteins for KRT81 Gene

  • Protein details for KRT81 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14533-KRT81_HUMAN
    Recommended name:
    Keratin, type II cuticular Hb1
    Protein Accession:
    Q14533
    Secondary Accessions:
    • Q14846
    • Q16274
    • Q17R48
    • Q8WU52
    • Q9BR74

    Protein attributes for KRT81 Gene

    Size:
    505 amino acids
    Molecular mass:
    54928 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    Miscellaneous:
    • There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

neXtProt entry for KRT81 Gene

Post-translational modifications for KRT81 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT81 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for KRT81
  • Boster Bio Antibodies for KRT81

No data available for DME Specific Peptides for KRT81 Gene

Domains & Families for KRT81 Gene

Gene Families for KRT81 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT81 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type II keratin signature

Suggested Antigen Peptide Sequences for KRT81 Gene

GenScript: Design optimal peptide antigens:
  • ghHKb1 (KRT81_HUMAN)
  • Type II hair-specific keratin (Q8N120_HUMAN)
  • Type II hair keratin 1 (Q9NSB5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14533

UniProtKB/Swiss-Prot:

KRT81_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT81: view

Function for KRT81 Gene

Phenotypes From GWAS Catalog for KRT81 Gene

Gene Ontology (GO) - Molecular Function for KRT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KRT81: view
genes like me logo Genes that share phenotypes with KRT81: view

Human Phenotype Ontology for KRT81 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT81

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT81 Gene

Localization for KRT81 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT81 gene
Compartment Confidence
extracellular 4
cytosol 4
cytoskeleton 3
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRT81: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT81 Gene

Pathways & Interactions for KRT81 Gene

PathCards logo

SuperPathways for KRT81 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT81: view

Pathways by source for KRT81 Gene

2 Reactome pathways for KRT81 Gene

Gene Ontology (GO) - Biological Process for KRT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT81: view

No data available for SIGNOR curated interactions for KRT81 Gene

Drugs & Compounds for KRT81 Gene

No Compound Related Data Available

Transcripts for KRT81 Gene

mRNA/cDNA for KRT81 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT81

Alternative Splicing Database (ASD) splice patterns (SP) for KRT81 Gene

No ASD Table

Relevant External Links for KRT81 Gene

GeneLoc Exon Structure for
KRT81

Expression for KRT81 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT81 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT81 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.0) and Skin - Sun Exposed (Lower leg) (x5.9).

Protein differential expression in normal tissues from HIPED for KRT81 Gene

This gene is overexpressed in Bone (53.3) and Urine (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT81 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT81

SOURCE GeneReport for Unigene cluster for KRT81 Gene:

Hs.658118

mRNA Expression by UniProt/SwissProt for KRT81 Gene:

Q14533-KRT81_HUMAN
Tissue specificity: Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.

Evidence on tissue expression from TISSUES for KRT81 Gene

  • Lung(4.5)
  • Skin(4.3)
  • Bone(2.7)
  • Liver(2.4)
  • Stomach(2.2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT81 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with KRT81: view

Primer products for research

No data available for Protein tissue co-expression partners for KRT81 Gene

Orthologs for KRT81 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT81 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT81 29 30
  • 98.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC486529 29
  • 90.83 (n)
-- 30
  • 89 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia KRT81 29
  • 88.87 (n)
-- 30
  • 84 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Krt81 29
  • 88.21 (n)
Mouse
(Mus musculus)
Mammalia Krt81 29 16
  • 87.08 (n)
Krt83 30
  • 81 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 86 (a)
ManyToMany
-- 30
  • 86 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 83 (a)
ManyToMany
-- 30
  • 82 (a)
ManyToMany
-- 30
  • 82 (a)
ManyToMany
-- 30
  • 80 (a)
ManyToMany
Species where no ortholog for KRT81 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT81 Gene

ENSEMBL:
Gene Tree for KRT81 (if available)
TreeFam:
Gene Tree for KRT81 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT81: view image
Alliance of Genome Resources:
Additional Orthologs for KRT81

Paralogs for KRT81 Gene

genes like me logo Genes that share paralogs with KRT81: view

Variants for KRT81 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT81 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1032047 Pathogenic: Beaded hair 52,287,983(-) C/A
NM_002281.4(KRT81):c.900+1G>T
SPLICE_DONOR_VARIANT,INTRON
rs12812669 Not Provided: not provided 52,288,357(-) G/A
NM_002281.4(KRT81):c.735+4C>T
INTRON
rs138597671 Pathogenic: Beaded hair 52,288,038(-) A/T
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)
NONSENSE,INTRON
rs56821304 Pathogenic: Beaded hair; not provided. Monilethrix (MNLIX) [MIM:158000] 52,287,145(-) C/Tp.Glu402Lys
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)
MISSENSE_VARIANT,INTRON
rs57419521 Pathogenic: Beaded hair; not provided. Monilethrix (MNLIX) [MIM:158000] 52,287,112(-) C/Tp.Glu413Lys
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT81 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRT81 Gene

Variant ID Type Subtype PubMed ID
dgv1502n100 CNV gain 25217958
dgv1503n100 CNV gain 25217958
dgv2630n54 CNV gain 21841781
dgv70e55 CNV gain 17911159
esv27319 CNV gain+loss 19812545
esv2759899 CNV gain 17122850
esv29967 CNV gain 17803354
esv3892201 CNV loss 25118596
nsv516938 CNV gain+loss 19592680
nsv558900 CNV loss 21841781
nsv7230 OTHER inversion 18451855
nsv826377 CNV loss 20364138
nsv976615 CNV duplication 23825009

Variation tolerance for KRT81 Gene

Gene Damage Index Score: 9.98; 89.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT81 Gene

Human Gene Mutation Database (HGMD)
KRT81
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT81
Leiden Open Variation Database (LOVD)
KRT81

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT81 Gene

Disorders for KRT81 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KRT81 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
monilethrix
  • mnlix
hair disease
  • hair anomaly
pilomatrixoma
  • pilomatricoma; ptr
ectodermal dysplasia 4, hair/nail type
  • ectd4
hypotrichosis 6
  • hypt6
- elite association - COSMIC cancer census association via MalaCards
Search KRT81 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KRT81_HUMAN
  • Monilethrix (MNLIX) [MIM:158000]: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. {ECO:0000269 PubMed:25557232, ECO:0000269 PubMed:9402962, ECO:0000269 PubMed:9665406}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KRT81

genes like me logo Genes that share disorders with KRT81: view

No data available for Genatlas for KRT81 Gene

Publications for KRT81 Gene

  1. Sequence data and chromosomal localization of human type I and type II hair keratin genes. (PMID: 7556444) Rogers MA … Schweizer J (Experimental cell research 1995) 2 3 4 72
  2. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. (PMID: 9665406) Winter H … Schweizer J (The Journal of investigative dermatology 1998) 3 4 72
  3. Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. (PMID: 9457912) Bowden PE … Hodgins MB (The Journal of investigative dermatology 1998) 3 4 22
  4. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (PMID: 9402962) Winter H … Schweizer J (Human genetics 1997) 3 4 72
  5. Novel KRT83 and KRT86 mutations associated with monilethrix. (PMID: 25557232) van Steensel M … van Geel M (Experimental dermatology 2015) 3 4

Products for KRT81 Gene

Sources for KRT81 Gene