KRT83 - keratin 83 Gene

Also Known as HB3; Hb-3; EKVP5; MNLIX; KRTHB3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3889

About KRT83

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,314,301-52,321,398 (from NCBI)

This gene has 1 transcript (splice variant), 43 orthologues, 68 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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 KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]

KRT83 Products (1)

mRNA Protein Name
NM_002282.3 NP_002273.3 keratin, type II cuticular Hb3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in hair cycle IDA
IDA: Inferred from direct assay
21916889 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KRT83 Protein Structure

Filament

Filament: Intermediate filament protein (110 - 421)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 493 a.a.
Protein Preferred Names Protein Names

keratin, type II cuticular Hb3

  • K83

KRT83 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KRT83 P78385 KRT40 Homo sapiens Q6A162 32296183
Intra
KRT83 P78385 KRT40 Homo sapiens Q6A162 32296183
Intra
KRT83 P78385 KRT40 Homo sapiens Q6A162 32296183
Intra
KRT83 P78385 KRTAP10-9 Homo sapiens P60411 25416956
Intra
KRT83 P78385 KRTAP10-7 Homo sapiens P60409 25416956
Intra
KRT83 P78385 CREB5 Homo sapiens Q02930-3 32296183
Intra
KRT83 P78385 KRTAP13-3 Homo sapiens Q3SY46 32296183
Intra
KRT83 P78385 KRTAP13-3 Homo sapiens Q3SY46 32296183
Intra
KRT83 P78385 KRTAP13-3 Homo sapiens Q3SY46 32296183
Intra
KRT83 P78385 KRT37 Homo sapiens O76014 32296183
Intra
KRT83 P78385 KRT37 Homo sapiens O76014 32296183
Intra
KRT83 P78385 KRT34 Homo sapiens O76011 32296183
Intra
KRT83 P78385 KRT34 Homo sapiens O76011 32296183
Intra
KRT83 P78385 KRT38 Homo sapiens O76015 25416956
Intra
KRT83 P78385 KRT38 Homo sapiens O76015 32296183
Intra
KRT83 P78385 KRT38 Homo sapiens O76015 25416956
Intra
KRT83 P78385 KRT38 Homo sapiens O76015 29892012
Intra
KRT83 P78385 KRT38 Homo sapiens O76015 32296183
Intra
KRT83 P78385 KRT33B Homo sapiens Q14525 32296183
Intra
KRT83 P78385 KRT33B Homo sapiens Q14525 32296183
Intra
KRT83 P78385 KRT33B Homo sapiens Q14525 32296183
Intra
KRT83 P78385 KRTAP11-1 Homo sapiens Q8IUC1 32296183
Intra
KRT83 P78385 KRTAP11-1 Homo sapiens Q8IUC1 32296183
Intra
KRT83 P78385 KRTAP11-1 Homo sapiens Q8IUC1 32296183
Intra
KRT83 P78385 KRT35 Homo sapiens Q92764 32296183
Intra
KRT83 P78385 KRT35 Homo sapiens Q92764 32296183
Intra
KRT83 P78385 KRT35 Homo sapiens Q92764 32296183
Intra
KRT83 P78385 NRF1 Homo sapiens Q16656-4 32296183
Intra
KRT83 P78385 CEP57 Homo sapiens Q86XR8-3 32296183
Intra
KRT83 P78385 CEP57 Homo sapiens Q86XR8-3 32296183
Intra
KRT83 P78385 CEP57 Homo sapiens Q86XR8-3 32296183
Intra
KRT83 P78385 ANKS1A Homo sapiens Q49AR9 32296183
Intra
KRT83 P78385 KRT39 Homo sapiens Q6A163 32296183
Intra
KRT83 P78385 KRT39 Homo sapiens Q6A163 32296183
Intra
KRT83 P78385 KRT39 Homo sapiens Q6A163 32296183
Intra
KRT83 P78385 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
KRT83 P78385 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
KRT83 P78385 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
KRT83 P78385 GNE Homo sapiens Q9Y223-2 32296183
Intra
KRT83 P78385 KRT25 Homo sapiens Q7Z3Z0 32296183
Intra
KRT83 P78385 KRT25 Homo sapiens Q7Z3Z0 32296183
Intra
KRT83 P78385 KRT25 Homo sapiens Q7Z3Z0 32296183
Intra
KRT83 P78385 PLEKHN1 Homo sapiens Q494U1-3 32296183
Intra
KRT83 P78385 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
KRT83 P78385 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
KRT83 P78385 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
KRT83 P78385 POU4F2 Homo sapiens Q12837 32296183
Intra
KRT83 P78385 POU4F2 Homo sapiens Q12837 32296183
Intra
KRT83 P78385 POU4F2 Homo sapiens Q12837 32296183
Intra
KRT83 P78385 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
KRT83 P78385 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
KRT83 P78385 ZDHHC1 Homo sapiens Q8WTX9 32296183
Intra
KRT83 P78385 KRT27 Homo sapiens Q7Z3Y8 32296183
Intra
KRT83 P78385 KRT27 Homo sapiens Q7Z3Y8 32296183
Intra
KRT83 P78385 KRT27 Homo sapiens Q7Z3Y8 32296183
Intra
KRT83 P78385 KRT16 Homo sapiens P08779 32296183
Intra
KRT83 P78385 KRT16 Homo sapiens P08779 32296183
Intra
KRT83 P78385 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
KRT83 P78385 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6 32296183
Intra
KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6 32296183
Intra
KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6 32296183
Intra
KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6 32296183
Intra
KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6 32296183
Intra
KRT83 P78385 OIP5 Homo sapiens O43482 32296183
Intra
KRT83 P78385 OIP5 Homo sapiens O43482 32296183
Intra
KRT83 P78385 C11orf87 Homo sapiens Q6NUJ2 32296183
Intra
KRT83 P78385 KRT15 Homo sapiens P19012 32296183
Intra
KRT83 P78385 KRT15 Homo sapiens P19012 32296183
Intra
KRT83 P78385 OTX1 Homo sapiens P32242 32296183
Intra
KRT83 P78385 OTX1 Homo sapiens P32242 32296183
Intra
KRT83 P78385 HOXA1 Homo sapiens P49639 32296183
Intra
KRT83 P78385 HOXA1 Homo sapiens P49639 32296183
Intra
KRT83 P78385 KRT19 Homo sapiens P08727 32296183
Intra
KRT83 P78385 KRT19 Homo sapiens P08727 32296183
Intra
KRT83 P78385 KRT31 Homo sapiens Q15323 32296183
Intra
KRT83 P78385 KRT31 Homo sapiens Q15323 32296183
Intra
KRT83 P78385 KRT31 Homo sapiens Q15323 25416956
Intra
KRT83 P78385 KRT31 Homo sapiens Q15323 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Monilethrix
  • Beaded Hair

  • MNLIX

  • Nodose Hair

  • Moniliform Hair Syndrome

Erythrokeratodermia Variabilis Et Progressiva 5
  • EKVP5

  • Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva 1
  • Erythrokeratodermia Variabilis

  • Erythrokeratodermia Variabilis Et Progressiva

  • Greither Disease

  • Ekv

  • Ekvp

  • PSEK

  • Erythrokeratodermia Variabilis With Erythema Gyratum Repens

  • Keratosis Palmoplantaris Transgrediens Et Progrediens

  • Transgrediens Et Progrediens Palmoplantar Keratoderma

  • EKVP1

  • Erythrokeratodermia, Progressive Symmetric

  • Erythrokeratodermia Figurata, Congenital Familial, In Plaques

  • Keratoderma Palmoplantaris Transgrediens

  • Keratosis Extremitatum Hereditaria Progrediens

  • Erythrokeratodermia Variabilis, Mendes Da Costa Type

  • Progressive Symmetric Erythrokeratodermia

  • Erythrokeratodermia Figurata Variabilis

  • Greither'S Disease

  • Ekv-P

  • Erythrokeratodermia Variabilis Of Mendes Da Costa

  • Progressive Symmetrical Erythrokeratoderma Of Gottron

  • Progressive Diffuse Ppk

  • Progressive Diffuse Palmoplantar Keratoderma

  • Transgrediens Et Progrediens Ppk

  • Darier-Gottron Disease

  • Erythrokeratodermia Progressiva Symmetrica

  • Progressive Symmetric Erythrokeratodermia, Gottron Type

  • Congenital Familial Erythrokeratodermia Figurata In Plaques

  • Erythrokeratodermia Progressive Symmetric

  • Erythrokeratodermia Variabilis Mendes Da Costa Type

Hypotrichosis 6
  • HYPT6

  • Lah1

  • Hypotrichosis, Localized, Autosomal Recessive

  • Monilethrix-Like Hypotrichosis

  • Hypotrichosis, Localized, Autosomal Recessive 1

  • Lah

  • Htl

  • Autosomal Recessive Localized Hypotrichosis

  • Hypotrichosis Localized Autosomal Recessive

  • Hypotrichosis Localized Autosomal Recessive 1

  • Hypotrichosis, Type 6

Naegeli-Franceschetti-Jadassohn Syndrome
  • Naegeli Syndrome

  • Nfj Syndrome

  • NFJS

  • Reticular Skin Changes, Dental Anomalies, Decreased Function Of Sweat Glands, Strabismus, And Optic Atrophy

  • Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis

  • Dpr

  • Franceschetti-Jadassohn Syndrome

  • Nfjs/Dpr

Ectodermal Dysplasia 4, Hair/Nail Type
  • Pure Hair And Nail Ectodermal Dysplasia

  • ECTD4

  • Ectodermal Dysplasia, Pure Hair-Nail Type

  • Ectodermal Dysplasia, 'Pure' Hair/Nail Type

  • Hned

  • Hair-Nail Ectodermal Dysplasia

  • Phned

  • Ectodermal Dysplasia Pure Hair-Nail Type

  • Ectodermal Dysplasia, 'Pure' Hair-Nail Type

  • Dysplasia, Ectodermal, Type 4, Hair/Nail

Hypotrichosis
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
  • Hay-Wells Syndrome

  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

  • Aec Syndrome

  • AEC

  • Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

  • Seres-Santamaria Arimany Muniz Syndrome

  • Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

  • Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

  • Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

  • Rapp-Hodgkin Syndrome

Hair Disease
  • Hair Diseases

  • Hair Anomaly

  • Hair Disorder

  • Hair Problems

Alopecia
Dermatopathia Pigmentosa Reticularis
  • DPR

Hypotrichosis 2
  • HYPT2

  • Hypotrichosis Simplex Of The Scalp 1

  • Htss1

  • Htss

  • Hypotrichosis, Spanish Type

  • Spanish Type Hypotrichosis

  • Hypotrichosis Spanish Type

  • Hypotrichosis, Type 2

  • Hypotrichosis Simplex Of Scalp

Atrichia With Papular Lesions
  • Papular Atrichia

  • APL

  • Congenital Atrichia

Vohwinkel Syndrome
  • Mutilating Keratoderma

  • Keratoderma Hereditarium Mutilans

  • Khm

  • VOWNKL

  • Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

  • Mutilating Keratoderma Of Vohwinkel

  • Mutilating Keratoderma Plus Deafness

  • Ppk Mutilans And Deafness

  • Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

  • Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

  • Palmoplantar Keratoderma Mutilans

  • Palmoplantar Keratoderma Mutilans Vohwinkel

  • Ppk Mutilans Vohwinkel

  • Mutilating Keratoderma Plus Hearing Loss

  • Ppk Mutilans And Hearing Loss

Hypotrichosis 8
  • HYPT8

  • Lah3

  • Hypotrichosis, Localized, Autosomal Recessive 3

  • Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

  • Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

  • Hypotrichosis Localized Autosomal Recessive 3

  • Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

  • ARWH1

  • Hypotrichosis, Type 8

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
  • Hypohidrotic Ectodermal Dysplasia

  • Hed

  • Anhidrotic Ectodermal Dysplasia

  • Ectodermal Dysplasia, Hypohidrotic

  • Eda

  • Christ-Siemens-Touraine Syndrome

  • ECTD10B

  • Ectodermal Dysplasia Anhidrotic

  • Ectodermal Dysplasia, Anhidrotic

  • Cst Syndrome

  • Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

  • Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

  • Dysplasia, Ectodermal, Hypohidrotic

  • Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

  • Ectodermal Dysplasia 3, Anhidrotic

  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Familial Woolly Hair Syndrome
  • Wooly Hair

  • Familial Wooly Hair Syndrome

  • Hereditary Woolly Hair Syndrome

  • Hereditary Wooly Hair Syndrome

  • Woolly Hair

  • Syndrome With Woolly Hair

  • Wooly Hair Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KRT83 RGD RGD:1583565
Others KRT83 NCBI