KRT83 Gene
protein-coding GIFtS: 47
GCID: GC12M052708
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keratin 83(Previous names: keratin, hair, basic, 3 )
(Previous symbol: KRTHB3)
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Aliases
for KRT83 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Keratin 831 2 | | K832 3 | | KRTHB31 2 3 5 | | HB32 5 | | Hb-31 2 | | HHb31 | | Keratin, Hair, Basic, 31 2 | | Hard Keratin, Type II, 32 | | Hair Keratin K2.102 3 | | Keratin, Type II Cuticular Hb32 | | Type II Hair Keratin Hb32 3 | | Keratin-833 | | Type-II Keratin Kb232 3 | | Keratin-833 |
Export aliases for KRT83 gene to outside databasesPrevious GC identifers: GC12M050995 GC12M049751 |
Summaries
for KRT83 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KRT83:
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basicprotein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered ina region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. Onesubfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includesKRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1and KRTHB6, is found primarily in the hair cortex. (provided by RefSeq, Jul 2008)
Gene Wiki entry for KRT83
|
Genomic Views
for KRT83 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KRT83 gene promoter:
AhR NF-1/L NF-1 Pax-2a YY1 Arnt C/EBPalpha AREB6 CHOP-10 FOXO4
Other transcription factors
Search SABiosciences Chromatin IP Primers for KRT83
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT83 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q12-q13KRT83 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M052708: view genomic region
(about GC identifiers)
Start:
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52,708,085 bp from pter |
End:
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52,715,182 bp from pter |
Size:
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7,098 bases |
Orientation:
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minus strand |
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Proteins
for KRT83 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385 (See
protein sequence)Recommended Name: Keratin, type II cuticular Hb3 Size: 493 amino acids; 54195 Da
Subunit: 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)
Secondary accessions: A1A4S9 B2RC21 Q6NT21 Q9NSB3Explore the universe of human proteins at neXtProt for KRT83: NX_P78385
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P78385
KRT83 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002273.3
ENSEMBL proteins: ENSP00000293670
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0045095 | keratin filament |
IEA | -- |
KRT83 for ontologies About GeneDecksing
KRT83 Antibody Products:
Assay Products for KRT83: |
Protein
Domains /
Families
for KRT83 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRT83 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P78385ProtoNet protein and cluster: P78385 3 Blocks protein families: IPB001664 Intermediate filament protein IPB002223 Pancreatic trypsin inhibitor (Kunitz) IPB003054 Type II keratin signature
UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385Similarity: Belongs to the intermediate filament family |
Function
for KRT83 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT83 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT83
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRT83 (NM_002282) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRT83 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT83 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005198 | structural molecule activity |
IEA | -- |
KRT83 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for KRT83:
|
Pathways & Interactions
for KRT83 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT83
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
KRT83 for ontologies About GeneDecksing
|
Drugs & Compounds
for KRT83 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KRT83
Search CenterWatch for drugs/clinical trials and news about KRT83
|
Transcripts
for KRT83 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KRT83 gene: NM_002282.3 Unigene Cluster for KRT83: Keratin 83 Hs.720768 [show with all ESTs]Unigene Representative Sequence: X991411 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000293670(uc001saf.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT83 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT83
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KRT83 (NM_002282) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRT83 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT83 |
Additional cDNA sequence: AK314904.1 BC069546.1 BC126935.1 BC128063.1 X99141.1 4 DOTS entries: DT.97770268 DT.121119041 DT.111776 DT.95069074 11 AceView cDNA sequences: BC069546 NM_002282 X99141 BF748403 BQ941413 BU158573 BQ217126 BQ877238 BQ217125 BF748396 BQ927834
GeneLoc Exon Structure
|
Expression
for KRT83 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KRT83 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See KRT83 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRT83
SOURCE GeneReport for Unigene cluster: Hs.720768
UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385Tissue specificity: Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and endsabruptly in the middle of the cortex
SABiosciences Custom PCR Arrays for KRT83
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT83
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KRT83 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT83 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT83 |
Orthologs
for KRT83 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KRT83 gene from 4/14 species (see all 14) About this table
ENSEMBL Gene Tree for KRT83 (if available)
TreeFam Gene Tree for KRT83 (if available) |
Paralogs
for KRT83 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KRT83 gene
- KRT742 KRT772 KRT6B2 KRT762 KRT862 KRT32 KRT842 KRT82
- KRT812 KRT712 KRT8P112 KRT782 KRT72 ENSG000001704422 KRT792 KRT722
- KRT732 KRT52 KRT6C2 KRT6A2 KRT852 KRT22 KRT752 KRT12
- KRT822 KRT42
18/48 SIMAP similar genes for KRT83 using alignment to 2 protein entries: KRT83_HUMAN (see all proteins)
(see all similar genes):KRT121P KRTHB6 KRT81 KRT86 KRTHB1 KRT85
KRT72 KRT7 KRT82 KRT84 KRTHB2 KRT8
KRT1 KRT75 KRT5 KRT1B KRT4 KRT78
KRT83 for paralogs About GeneDecksing
|
Genomic Variants
for KRT83 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KRT83 (52708085 - 52715182 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for KRT83
7 CNVs: 53570 2984 9695 8730 3889 66223 23297
Human Gene Mutation Database (HGMD): KRT83
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT83 |
|
Disorders
/ Diseases
for KRT83 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KRT83 for disorders About GeneDecksing
OMIM gene information: 602765
OMIM disorders: 158000
UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385
Defects in KRT83 are a cause of monilethrix (MLTRX) [MIM:158000]. Monilethrix is an autosomal dominant hairdisorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes ofnormal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp isinvolved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected
7  diseases for KRT83: About MalaCardslocalized autosomal recessive hypotrichosis monilethrix hypotrichosis alopecia
pharyngitis pancreatitis neuronitis
1 disease from the University of Copenhagen DISEASES database for KRT83:Monilethrix 1 Novoseek disease relationship for KRT83 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| monilethrix |
95.2 |
3 |
16575393 (1), 10504448 (1), 16439973 (1) |
Export disorders for KRT83 gene to outside databases
|
Publications
for KRT83 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KRT83 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with KRT83) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Sequences and differential expression of three novel human type-II hair keratins. (PubMed id 9084137)1, 2, 3, 9 Rogers M.A....Schweizer J. (1997)
- New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (PubMed id 15744029)1, 2 van Steensel M.A....van Geel M. (2005)
- Characterization of a 300 kbp region of human DNA containing the type II hair keratin. (PubMed id 10692104)1, 2 Rogers M.A.... Schweizer J. (2000)
- The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. (PubMed id 11445569)1, 9 Langbein L....Schweizer J. (2001)
- Charting the molecular network of the drug target Bcr-Abl. (PubMed id 19380743)1 Brehme M....Superti-Furga G. (2009)
- Keratins of the human hair follicle. (PubMed id 15797458)1 Langbein L. and Schweizer J. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for KRT83 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KRT83 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KRT83 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KRT83 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KRT83 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT83 |
|
| | |
About This Section
| Patent Information for KRT83 gene:
Search GeneIP for patents involving KRT83
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KRT83 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KRT83 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT83 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT83 | | | OriGene Protein Over-expression Lysate for KRT83 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KRT83 | | OriGene 3'-UTR Clone for KRT83 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT83 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT83 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KRT83 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT83 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT83 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT83 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT83 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT83 |
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| | | | Search Tocris compounds for KRT83 |
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 | | | KRT83 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | ThermoFisher Antibodies for KRT83 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT83 |
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