This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this pro... See more...

Aliases for KRT33A Gene

Aliases for KRT33A Gene

  • Keratin 33A 2 3 5
  • Keratin, Type I Cuticular Ha3-I 3 4
  • Hair Keratin, Type I Ha3-I 3 4
  • Keratin, Hair, Acidic, 3A 2 3
  • Keratin 33A, Type I 2 3
  • KRTHA3A 3 4
  • Krt1-3 2 3
  • Ha-3I 2 3
  • K33A 3 4
  • Hard Keratin, Type I,3I 3
  • Hard Keratin Type I 3I 2
  • Keratin-33A 4
  • HHa3-I 3
  • KRT33A 5
  • HHA3-I 4
  • HKA3A 4
  • HA3I 3

External Ids for KRT33A Gene

Previous HGNC Symbols for KRT33A Gene

  • KRTHA3A

Previous GeneCards Identifiers for KRT33A Gene

  • GC17M036756
  • GC17M039502
  • GC17M035265

Summaries for KRT33A Gene

Entrez Gene Summary for KRT33A Gene

  • This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]

GeneCards Summary for KRT33A Gene

KRT33A (Keratin 33A) is a Protein Coding gene. Diseases associated with KRT33A include Skin Pilomatrix Carcinoma and Amyloidosis, Familial Visceral. Among its related pathways are Relaxin signaling pathway and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT33B.

Gene Wiki entry for KRT33A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT33A Gene

Genomics for KRT33A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT33A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J041350 Promoter 0.3 EPDnew 250.7 +0.1 65 0.1 KRT33A LOC105371778 HSALNG0116426 KRTAP17-1
GH17J041351 Enhancer 0.2 Ensembl 250.7 -1.2 -1172 0.4 KRT33A LOC105371778 KRT33B
GH17J041347 Enhancer 0.6 Ensembl ENCODE dbSUPER 0.7 +2.5 2464 1.1 CREB1 KRT31 LOC100505782 KRT38 KRT33A HSALNG0116426 KRTAP17-1
GH17J041352 Enhancer 0.6 FANTOM5 dbSUPER 0.7 -2.3 -2331 0.3 REST ZNF629 TSHZ1 MIER1 LOC105371778 KRTAP2-1 KRTAP9-1 KRTAP2-2 KRTAP9-2 KRTAP9-9 KRT37 KRT40 KRTAP2-4 KRT35
GH17J041333 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.4 +11.9 11940 10.2 MAFF EBF1 YBX1 BHLHE40 SPI1 ZNF416 ZNF24 NRF1 PKNOX1 MTA2 HSALNG0116426 KRT34 KRT38 KRT32 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT33A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT33A

Top Transcription factor binding sites by QIAGEN in the KRT33A gene promoter:
  • AP-2gamma
  • E47
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx2-5
  • p300
  • Tal-1

Genomic Locations for KRT33A Gene

Latest Assembly
chr17:41,345,704-41,350,828
(GRCh38/hg38)
Size:
5,125 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,502,344-39,507,080
(GRCh37/hg19 by Entrez Gene)
Size:
4,737 bases
Orientation:
Minus strand

chr17:39,502,344-39,507,064
(GRCh37/hg19 by Ensembl)
Size:
4,721 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):89,433-94,169 (+)

Genomic View for KRT33A Gene

Genes around KRT33A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT33A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT33A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT33A Gene

Proteins for KRT33A Gene

  • Protein details for KRT33A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76009-KT33A_HUMAN
    Recommended name:
    Keratin, type I cuticular Ha3-I
    Protein Accession:
    O76009
    Secondary Accessions:
    • B2RA87
    • Q6NTB9
    • Q6ZZB9

    Protein attributes for KRT33A Gene

    Size:
    404 amino acids
    Molecular mass:
    45940 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

neXtProt entry for KRT33A Gene

Post-translational modifications for KRT33A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT33A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT33A Gene

Domains & Families for KRT33A Gene

Gene Families for KRT33A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRT33A Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature

Suggested Antigen Peptide Sequences for KRT33A Gene

GenScript: Design optimal peptide antigens:
  • Keratin-33A (KT33A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76009

UniProtKB/Swiss-Prot:

KT33A_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT33A: view

Function for KRT33A Gene

Phenotypes From GWAS Catalog for KRT33A Gene

Gene Ontology (GO) - Molecular Function for KRT33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
genes like me logo Genes that share ontologies with KRT33A: view
genes like me logo Genes that share phenotypes with KRT33A: view

miRNA for KRT33A Gene

miRTarBase miRNAs that target KRT33A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT33A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT33A Gene

Localization for KRT33A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT33A gene
Compartment Confidence
extracellular 4
cytosol 4
cytoskeleton 3
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRT33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRT33A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT33A Gene

Pathways & Interactions for KRT33A Gene

genes like me logo Genes that share pathways with KRT33A: view

Pathways by source for KRT33A Gene

2 Reactome pathways for KRT33A Gene

Gene Ontology (GO) - Biological Process for KRT33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT33A: view

No data available for SIGNOR curated interactions for KRT33A Gene

Drugs & Compounds for KRT33A Gene

No Compound Related Data Available

Transcripts for KRT33A Gene

mRNA/cDNA for KRT33A Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT33A

Alternative Splicing Database (ASD) splice patterns (SP) for KRT33A Gene

No ASD Table

Relevant External Links for KRT33A Gene

GeneLoc Exon Structure for
KRT33A

Expression for KRT33A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT33A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT33A Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.8) and Skin - Sun Exposed (Lower leg) (x5.7).

Protein differential expression in normal tissues from HIPED for KRT33A Gene

This gene is overexpressed in Hair follicle (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT33A Gene



Protein tissue co-expression partners for KRT33A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT33A

SOURCE GeneReport for Unigene cluster for KRT33A Gene:

Hs.512579

mRNA Expression by UniProt/SwissProt for KRT33A Gene:

O76009-KT33A_HUMAN
Tissue specificity: Expressed in the hair follicles.

Evidence on tissue expression from TISSUES for KRT33A Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with KRT33A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT33A Gene

Orthologs for KRT33A Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT33A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT33A 29 30
  • 98.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 89 (a)
ManyToMany
-- 30
  • 88 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia KRT33A 30
  • 89 (a)
ManyToMany
LOC618455 29
  • 88.68 (n)
-- 30
  • 87 (a)
ManyToMany
HKA1 30
  • 86 (a)
ManyToMany
KRT31 30
  • 83 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Krt33a 30
  • 89 (a)
ManyToMany
Krt34 30
  • 87 (a)
ManyToMany
Krt33b 30
  • 87 (a)
ManyToMany
Krt31 30
  • 86 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 83 (a)
ManyToMany
-- 30
  • 74 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 81 (a)
ManyToMany
-- 30
  • 80 (a)
ManyToMany
-- 30
  • 80 (a)
ManyToMany
Species where no ortholog for KRT33A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT33A Gene

ENSEMBL:
Gene Tree for KRT33A (if available)
TreeFam:
Gene Tree for KRT33A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT33A: view image
Alliance of Genome Resources:
Additional Orthologs for KRT33A

Paralogs for KRT33A Gene

genes like me logo Genes that share paralogs with KRT33A: view

Variants for KRT33A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT33A Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs193921001 Uncertain Significance: Malignant tumor of prostate 41,350,553(-) T/C
NM_004138.4(KRT33A):c.215A>G (p.Glu72Gly)
MISSENSE
rs12937519 -- p.Ala270Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT33A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRT33A Gene

Variant ID Type Subtype PubMed ID
dgv3171n100 CNV loss 25217958
esv25327 CNV loss 19812545
esv2671270 CNV deletion 23128226
esv2758690 CNV gain+loss 17122850
esv3640584 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv2051 CNV deletion 18451855
nsv483014 CNV loss 15286789
nsv509656 CNV insertion 20534489
nsv514844 CNV loss 21397061
nsv518572 CNV loss 19592680
nsv9553 CNV loss 18304495
nsv962321 CNV duplication 23825009

Variation tolerance for KRT33A Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.21; 92.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT33A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT33A
Leiden Open Variation Database (LOVD)
KRT33A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT33A Gene

Disorders for KRT33A Gene

MalaCards: The human disease database

(4) MalaCards diseases for KRT33A Gene - From: COP

Disorder Aliases PubMed IDs
skin pilomatrix carcinoma
  • malignant pilomatricoma
amyloidosis, familial visceral
  • amyloidosis viii
loose anagen hair syndrome
  • loose anagen syndrome
white sponge nevus 1
  • wsn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRT33A

genes like me logo Genes that share disorders with KRT33A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT33A Gene

Publications for KRT33A Gene

  1. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  2. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. (PMID: 15617563) Rogers MA … Schweizer J (Differentiation; research in biological diversity 2004) 3 4
  3. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. (PMID: 9756910) Rogers MA … Schweizer J (The Journal of biological chemistry 1998) 3 4
  4. A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms. (PMID: 7565656) Rogers MA … Winter H (Molecular biology reports 1994) 2 3
  5. Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones. (PMID: 28515276) Malinová A … Verheggen C (The Journal of cell biology 2017) 3

Products for KRT33A Gene

Sources for KRT33A Gene