KRT83

Functionⁱ

Miscellaneous

There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

GO - Molecular functionⁱ

structural molecule activity Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aging
Source: UniProtKB
Inferred from direct assayⁱ
- 21916889
cornification Source: Reactome
epidermis development
Source: ProtInc
Traceable author statementⁱ
- 9084137
hair cycle
Source: UniProtKB
Inferred from direct assayⁱ
- 21916889
keratinization Source: Reactome

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope

Reactomeⁱ

R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Keratin, type II cuticular Hb3 Alternative name(s): Hair keratin K2.10 Keratin-83 Short name: K83 Type II hair keratin Hb3 Type-II keratin Kb23
Gene namesⁱ	Name:KRT83 Synonyms:KRTHB3
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 12

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000170523.3
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6460 KRT83
MIMⁱ	602765 gene
neXtProtⁱ	NX_P78385

Subcellular locationⁱ

GO - Cellular component

Keywords - Cellular componentⁱ

Intermediate filament, Keratin

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Monilethrix (MNLIX)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_023052	407	E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar.		1
Natural variantⁱVAR_073049	418	E → K in MNLIX. 1 Publication		1

Erythrokeratodermia variabilis et progressiva 5 (EKVP5)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive.

Keywords - Diseaseⁱ

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3889
MalaCards human disease database More...MalaCardsⁱ	KRT83
MIMⁱ	158000 phenotype 617756 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000170523
Orphanetⁱ	573 Monilethrix
PharmGKBⁱ	PA30249

Polymorphism and mutation databases

BioMutaⁱ	KRT83
DMDMⁱ	218511666

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000063699	1 – 493	Keratin, type II cuticular Hb3Add BLAST		493

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Cross-linkⁱ	217	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity

Keywords - PTMⁱ

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbⁱ	P78385
PeptideAtlas More...PeptideAtlasⁱ	P78385
PRIDEⁱ	P78385
ProteomicsDBⁱ	12674 57609

PTM databases

iPTMnetⁱ	P78385
PhosphoSitePlusⁱ	P78385
SwissPalmⁱ	P78385

Expressionⁱ

Tissue specificityⁱ

Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000170523 Expressed in 58 organ(s), highest expression level in hair follicle
Genevisibleⁱ	P78385 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA049778

HPAⁱ

HPA049778

Interactionⁱ

Subunit structureⁱ

Heterotetramer of two type I and two type II keratins.

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
HOXA1	P49639	4	EBI-10221390,EBI-740785
KRT31	Q15323	5	EBI-10221390,EBI-948001
KRT38	O76015	5	EBI-10221390,EBI-1047263
KRTAP10-7	P60409	3	EBI-10221390,EBI-10172290
KRTAP10-8	P60410	3	EBI-10221390,EBI-10171774
KRTAP10-9	P60411	3	EBI-10221390,EBI-10172052
NOTCH2NL	Q7Z3S9	5	EBI-10221390,EBI-945833

Protein-protein interaction databases

BioGridⁱ	110087, 10 interactors
IntActⁱ	P78385, 41 interactors
STRINGⁱ	9606.ENSP00000293670

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P78385
SMRⁱ	P78385
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	111 – 422	IF rodPROSITE-ProRule annotationAdd BLAST		312

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 111	HeadAdd BLAST	111
Regionⁱ	112 – 146	Coil 1AAdd BLAST	35
Regionⁱ	147 – 156	Linker 1	10
Regionⁱ	157 – 257	Coil 1BAdd BLAST	101
Regionⁱ	258 – 274	Linker 12Add BLAST	17
Regionⁱ	275 – 418	Coil 2Add BLAST	144
Regionⁱ	419 – 493	TailAdd BLAST	75

Sequence similaritiesⁱ

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	ENOG410IH1H Eukaryota ENOG41113GZ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144006
HOGENOMⁱ	HOG000230976
HOVERGENⁱ	HBG013015
InParanoidⁱ	P78385
KEGG Orthology (KO) More...KOⁱ	K07605
OMAⁱ	GLCKPCG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G06FG
PhylomeDBⁱ	P78385
TreeFamⁱ	TF317854

Family and domain databases

InterProⁱ	View protein in InterPro IPR009030 Growth_fac_rcpt_cys_sf IPR001664 IF IPR018039 IF_conserved IPR039008 IF_rod_dom IPR032444 Keratin_2_head IPR003054 Keratin_II
PANTHERⁱ	PTHR23239 PTHR23239, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00038 Filament, 1 hit PF16208 Keratin_2_head, 1 hit
PRINTSⁱ	PR01276 TYPE2KERATIN
SMARTⁱ	View protein in SMART SM01391 Filament, 1 hit
SUPFAMⁱ	SSF57184 SSF57184, 2 hits
PROSITEⁱ	View protein in PROSITE PS00226 IF_ROD_1, 1 hit PS51842 IF_ROD_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

P78385-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF 
        60         70         80         90        100
GSHSVCGGFR AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI 
       110        120        130        140        150
DPNAQCVKQE EKEQIKSLNS RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE 
       160        170        180        190        200
CCQSNLEPLF AGYIETLRRE AECVEADSGR LASELNHVQE VLEGYKKKYE 
       210        220        230        240        250
EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE IDFLRRLYEE 
       260        270        280        290        300
EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES 
       310        320        330        340        350
WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK 
       360        370        380        390        400
LEAAVAQSEQ QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS 
       410        420        430        440        450
KLGLDIEIAT YRRLLEGEEQ RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS 
       460        470        480        490 
RPVTGSVCSA PCNGNLVVST GLCKPCGQLN TTCGGGSCGQ GRH

Length:493

Mass (Da):54,195

Last modified:December 16, 2008 - v2

Checksum:ⁱ73BE2DA2C93F3EB6

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	67	S → D in CAA67578 (PubMed:9084137).Curated	1
Sequence conflictⁱ	314	I → V in BAG37418 (PubMed:14702039).Curated	1
Sequence conflictⁱ	473	C → R in BAG37418 (PubMed:14702039).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_018119	149	R → C2 PublicationsCorresponds to variant dbSNP:rs2857663EnsemblClinVar.	1
Natural variantⁱVAR_018120	279	I → M2 PublicationsCorresponds to variant dbSNP:rs2852464EnsemblClinVar.	1
Natural variantⁱVAR_023052	407	E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar.	1
Natural variantⁱVAR_073049	418	E → K in MNLIX. 1 Publication	1
Natural variantⁱVAR_018121	493	H → Y3 PublicationsCorresponds to variant dbSNP:rs2857671EnsemblClinVar.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X99141 mRNA Translation: CAA67578.1 Y19208 Genomic DNA Translation: CAB76828.1 AK314904 mRNA Translation: BAG37418.1 BC069546 mRNA Translation: AAH69546.1 BC128063 mRNA Translation: AAI28064.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8823.1
NCBI Reference Sequences More...RefSeqⁱ	NP_002273.3, NM_002282.3
UniGeneⁱ	Hs.720768

Genome annotation databases

Ensemblⁱ	ENST00000293670; ENSP00000293670; ENSG00000170523
GeneIDⁱ	3889
KEGGⁱ	hsa:3889
UCSC genome browser More...UCSCⁱ	uc001saf.2 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
P78385	Keratin, type II cuticular Hb1		HUMAN		505	UniRef90_P78385
Keratin 81		PAPAN		506
Keratin 81		MACMU		505
Uncharacterized protein		CERAT		505
Keratin 81		MACNE		505
+95

Protein	Similar proteins		Species	Score	Length	Source
P78385	Keratin, type II cuticular Hb1		HUMAN		505	UniRef50_P78385
Keratin, type II cuticular Hb1		MOUSE		481
Keratin, type II microfibrillar, component 5		SHEEP		502
Keratin 81		PAPAN		506
Keratin 81		MACFA		505
+305

Entry informationⁱ

Entry nameⁱ	KRT83_HUMAN
Accessionⁱ	P78385Primary (citable) accession number: P78385 Secondary accession number(s): A1A4S9 , B2RC21, Q6NT21, Q9NSB3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	March 29, 2004
	Last sequence update:	December 16, 2008
	Last modified:	September 12, 2018
	This is version 151 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

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UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P78385 (KRT83_HUMAN)

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Keratin, type II cuticular Hb3

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytoskeleton

Cytosol

Extracellular region or secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ