KRT83 - keratin 83 Gene

Homo sapiens

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

Gene ID: 3889 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KRT83	P78385	KRT40	Homo sapiens	Q6A162	Validated Y2H	32296183
Intra	KRT83	P78385	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT40	Homo sapiens	Q6A162	Y2H Array	32296183
Intra	KRT83	P78385	KRTAP10-9	Homo sapiens	P60411	Validated Y2H	25416956
Intra	KRT83	P78385	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25416956
Intra	KRT83	P78385	CREB5	Homo sapiens	Q02930-3	Validated Y2H	32296183
Intra	KRT83	P78385	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Array	32296183
Intra	KRT83	P78385	KRTAP13-3	Homo sapiens	Q3SY46	Validated Y2H	32296183
Intra	KRT83	P78385	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT37	Homo sapiens	O76014	Y2H Array	32296183
Intra	KRT83	P78385	KRT37	Homo sapiens	O76014	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	KRT83	P78385	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT38	Homo sapiens	O76015	Validated Y2H	25416956
Intra	KRT83	P78385	KRT38	Homo sapiens	O76015	Y2H Array	32296183
Intra	KRT83	P78385	KRT38	Homo sapiens	O76015	Y2H Prey Pooling	25416956
Intra	KRT83	P78385	KRT38	Homo sapiens	O76015	Y2H Array	29892012
Intra	KRT83	P78385	KRT38	Homo sapiens	O76015	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT33B	Homo sapiens	Q14525	Validated Y2H	32296183
Intra	KRT83	P78385	KRT33B	Homo sapiens	Q14525	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT33B	Homo sapiens	Q14525	Y2H Array	32296183
Intra	KRT83	P78385	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRTAP11-1	Homo sapiens	Q8IUC1	Validated Y2H	32296183
Intra	KRT83	P78385	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Array	32296183
Intra	KRT83	P78385	KRT35	Homo sapiens	Q92764	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT35	Homo sapiens	Q92764	Y2H Array	32296183
Intra	KRT83	P78385	KRT35	Homo sapiens	Q92764	Validated Y2H	32296183
Intra	KRT83	P78385	NRF1	Homo sapiens	Q16656-4	Validated Y2H	32296183
Intra	KRT83	P78385	CEP57	Homo sapiens	Q86XR8-3	Validated Y2H	32296183
Intra	KRT83	P78385	CEP57	Homo sapiens	Q86XR8-3	Y2H Array	32296183
Intra	KRT83	P78385	CEP57	Homo sapiens	Q86XR8-3	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	ANKS1A	Homo sapiens	Q49AR9	Validated Y2H	32296183
Intra	KRT83	P78385	KRT39	Homo sapiens	Q6A163	Y2H Array	32296183
Intra	KRT83	P78385	KRT39	Homo sapiens	Q6A163	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT39	Homo sapiens	Q6A163	Validated Y2H	32296183
Intra	KRT83	P78385	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRTAP6-2	Homo sapiens	Q3LI66	Validated Y2H	32296183
Intra	KRT83	P78385	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	KRT83	P78385	GNE	Homo sapiens	Q9Y223-2	Validated Y2H	32296183
Intra	KRT83	P78385	KRT25	Homo sapiens	Q7Z3Z0	Validated Y2H	32296183
Intra	KRT83	P78385	KRT25	Homo sapiens	Q7Z3Z0	Y2H Array	32296183
Intra	KRT83	P78385	KRT25	Homo sapiens	Q7Z3Z0	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	PLEKHN1	Homo sapiens	Q494U1-3	Validated Y2H	32296183
Intra	KRT83	P78385	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	KRT83	P78385	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	KRT83	P78385	POU4F2	Homo sapiens	Q12837	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	POU4F2	Homo sapiens	Q12837	Y2H Array	32296183
Intra	KRT83	P78385	POU4F2	Homo sapiens	Q12837	Validated Y2H	32296183
Intra	KRT83	P78385	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	KRT83	P78385	ZDHHC1	Homo sapiens	Q8WTX9	Validated Y2H	32296183
Intra	KRT83	P78385	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	KRT83	P78385	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	KRT83	P78385	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT16	Homo sapiens	P08779	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT16	Homo sapiens	P08779	Y2H Array	32296183
Intra	KRT83	P78385	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	KRT83	P78385	KRTAP3-3	Homo sapiens	Q9BYR6	Validated Y2H	32296183
Intra	KRT83	P78385	KRTAP3-3	Homo sapiens	Q9BYR6	MAPPIT	32296183
Intra	KRT83	P78385	KRTAP3-3	Homo sapiens	Q9BYR6	Y2H Array	32296183
Intra	KRT83	P78385	KRTAP3-3	Homo sapiens	Q9BYR6	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRTAP3-3	Homo sapiens	Q9BYR6	Complementation	32296183
Intra	KRT83	P78385	OIP5	Homo sapiens	O43482	Y2H Array	32296183
Intra	KRT83	P78385	OIP5	Homo sapiens	O43482	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	C11orf87	Homo sapiens	Q6NUJ2	Validated Y2H	32296183
Intra	KRT83	P78385	KRT15	Homo sapiens	P19012	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT15	Homo sapiens	P19012	Y2H Array	32296183
Intra	KRT83	P78385	OTX1	Homo sapiens	P32242	Y2H Array	32296183
Intra	KRT83	P78385	OTX1	Homo sapiens	P32242	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	HOXA1	Homo sapiens	P49639	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	HOXA1	Homo sapiens	P49639	Y2H Array	32296183
Intra	KRT83	P78385	KRT19	Homo sapiens	P08727	Y2H Array	32296183
Intra	KRT83	P78385	KRT19	Homo sapiens	P08727	Y2H Prey Pooling	32296183
Intra	KRT83	P78385	KRT31	Homo sapiens	Q15323	Validated Y2H	32296183
Intra	KRT83	P78385	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	KRT83	P78385	KRT31	Homo sapiens	Q15323	Validated Y2H	25416956
Intra	KRT83	P78385	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07470	KRT83 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KRT83	RGD	RGD:1583565

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