KRT3 keratin 3 [Homo sapiens] - Gene

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Summary

Official Symbol: KRT3provided by HGNC
Official Full Name: keratin 3provided by HGNC
Primary source: HGNC:6440
See related: Ensembl:ENSG00000186442; HPRD:01013; MIM:148043; Vega:OTTHUMG00000169799
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: K3; CK3; FLJ95909
Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 12q13.13

Sequence :: Chromosome: 12; NC_000012.11 (53183469..53189892, complement)

See KRT3 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Location of the E498V mutation emphasizes the functional relevance of the highly conserved boundary motifs at the COOH-terminus of the alpha-helical rod domain in keratin 3 (K3).
Title: Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
A novel missense mutation (R503P) in KRT3 leads to MCD in 2 unrelated Taiwanese families.
Title: Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:110048	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
structural molecule activity	IMP Inferred from Mutant Phenotype more info	PubMed
structural molecule activity	NAS Non-traceable Author Statement more info

Process	Evidence Code	Pubs
cytoskeleton organization	NAS Non-traceable Author Statement more info
epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
intermediate filament	NAS Non-traceable Author Statement more info	PubMed
keratin filament	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: keratin, type II cytoskeletal 3

Names: keratin, type II cytoskeletal 3; CK-3; cytokeratin 3; cytokeratin-3; 65 kDa cytokeratin; type-II keratin Kb3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008350.1 RefSeqGene

Range

5001..11424

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_057088.2 → NP_476429.2 keratin, type II cytoskeletal 3

Status: REVIEWED

Source sequence(s)

AC107016, AJ628418, BM672628, CV571376

Consensus CDS

CCDS44895.1

UniProtKB/Swiss-Prot

P12035

Related

ENSP00000413479, OTTHUMP00000242121, ENST00000417996, OTTHUMT00000405930

Conserved Domains (1) summary

pfam00038
Location:197 – 512
Blast Score: 913

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

53183469..53189892, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

50227434..50233858, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC107016.20 (175546..181888)	None
genomic	CH471054.1	EAW96645.1
		EAW96646.1
genomic	X05418.1	CAA28991.1
genomic	X05419.1	CAA28992.1
genomic	X05420.1	CAA28993.1
		CAA28994.1
		CAA28995.1
genomic	X05421.1	CAA28996.1
mRNA	AJ628418.1	CAF31522.1
mRNA	AK314987.1	None
mRNA	BM672628.1	None
mRNA	CV571376.1	None
other-genetic	BC156125.1	AAI56126.1
other-genetic	BC172453.1	AAI72453.1