The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] See more...

Aliases for KRT38 Gene

Aliases for KRT38 Gene

  • Keratin 38 2 3 5
  • Keratin, Type I Cuticular Ha8 3 4
  • Hair Keratin, Type I Ha8 3 4
  • Keratin, Hair, Acidic, 8 2 3
  • Keratin 38, Type I 2 3
  • KRTHA8 3 4
  • K38 3 4
  • Keratin-38 4
  • HHa8 3
  • HHA8 4
  • HKA8 4
  • HA8 3

External Ids for KRT38 Gene

Previous HGNC Symbols for KRT38 Gene

  • KRTHA8

Previous GeneCards Identifiers for KRT38 Gene

  • GC17M036847
  • GC17M039592
  • GC17M035356

Summaries for KRT38 Gene

Entrez Gene Summary for KRT38 Gene

  • The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT38 Gene

KRT38 (Keratin 38) is a Protein Coding gene. Diseases associated with KRT38 include Nodular Basal Cell Carcinoma and Hair Follicle Neoplasm. Among its related pathways are Keratinization and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT37.

Additional gene information for KRT38 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT38 Gene

Genomics for KRT38 Gene

GeneHancer (GH) Regulatory Elements for KRT38 Gene

Promoters and enhancers for KRT38 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
GH17J041442 Enhancer 0.3 Ensembl 500.7 -1.6 -1557 0.2 JUND FOS KRT38 KRT34 KRT36 KRT43P lnc-KRT32-1
GH17J041440 Promoter 0.3 EPDnew 500.7 +0.4 408 0.1 KRT38 KRT37
GH17J041377 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 19.3 +61.0 61042 6.2 EP300 CEBPB JUN JUND RFX5 STAT3 FOXP2 BHLHE40 ZBTB40 SREBF1 KRT34 KRT38 KRT32 KRT36 KRT33B
GH17J041333 Enhancer 1 Ensembl ENCODE dbSUPER 20.6 +102.5 102456 10.2 NRF1 RELA MAFF ARNT MEF2B NBN SPI1 GATA3 YBX1 EBF1 KRT34 KRT38 KRT32 KRTAP16-1 KRTAP29-1 KRT31 ENSG00000234859 KRTAP17-1 KRTAP9-6 KRT37
GH17J041401 Enhancer 1.1 Ensembl ENCODE 18.1 +37.3 37266 4.2 NCOR1 JUND FOS ZNF639 TCF7 TRIM28 RFX1 EP300 TEAD1 TBX3 ENSG00000234859 LOC100505782 KRT34 KRT38 ENSG00000267758 KRT36 KRT31 KRT41P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT38 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT38

Top Transcription factor binding sites by QIAGEN in the KRT38 gene promoter:
  • AP-4
  • Bach2
  • c-Myb
  • CUTL1
  • Evi-1
  • Nkx2-5
  • RORalpha2
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)

Genomic Locations for KRT38 Gene

Genomic Locations for KRT38 Gene
chr17:41,436,369-41,441,344
(GRCh38/hg38)
Size:
4,976 bases
Orientation:
Minus strand
chr17:39,592,621-39,597,596
(GRCh37/hg19)
Size:
4,976 bases
Orientation:
Minus strand

Genomic View for KRT38 Gene

Genes around KRT38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT38 Gene

Proteins for KRT38 Gene

  • Protein details for KRT38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76015-KRT38_HUMAN
    Recommended name:
    Keratin, type I cuticular Ha8
    Protein Accession:
    O76015
    Secondary Accessions:
    • A2RRM5
    • Q6A164

    Protein attributes for KRT38 Gene

    Size:
    456 amino acids
    Molecular mass:
    50480 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 KRT38 Gene

Post-translational modifications for KRT38 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT38 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT38 Gene

Domains & Families for KRT38 Gene

Gene Families for KRT38 Gene

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

Protein Domains for KRT38 Gene

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

Suggested Antigen Peptide Sequences for KRT38 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-38 (KRT38_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76015

UniProtKB/Swiss-Prot:

KRT38_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT38: view

Function for KRT38 Gene

Phenotypes From GWAS Catalog for KRT38 Gene

Gene Ontology (GO) - Molecular Function for KRT38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT38: view
genes like me logo Genes that share phenotypes with KRT38: view

miRNA for KRT38 Gene

miRTarBase miRNAs that target KRT38

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT38 Gene

Localization for KRT38 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 KRT38 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for KRT38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT38: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT38 Gene

Pathways & Interactions for KRT38 Gene

genes like me logo Genes that share pathways with KRT38: view

Pathways by source for KRT38 Gene

2 Reactome pathways for KRT38 Gene

Gene Ontology (GO) - Biological Process for KRT38 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 KRT38: view

No data available for SIGNOR curated interactions for KRT38 Gene

Drugs & Compounds for KRT38 Gene

No Compound Related Data Available

Transcripts for KRT38 Gene

mRNA/cDNA for KRT38 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT38 Gene

No ASD Table

Relevant External Links for KRT38 Gene

GeneLoc Exon Structure for
KRT38

Expression for KRT38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT38 Gene

mRNA differential expression in normal tissues according to GTEx for KRT38 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.3).

Protein differential expression in normal tissues from HIPED for KRT38 Gene

This gene is overexpressed in Stomach (19.9), Breast (15.9), Esophagus (10.2), Hair follicle (9.5), and Skin (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT38 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT38

SOURCE GeneReport for Unigene cluster for KRT38 Gene:

Hs.248188

Evidence on tissue expression from TISSUES for KRT38 Gene

  • Skin(4.4)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with KRT38: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT38 Gene

Orthologs for KRT38 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT38 31 30
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KRT38 30
  • 83.6 (n)
-- 31
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 73 (a)
ManyToMany
-- 31
  • 71 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
ManyToMany
-- 31
  • 69 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 45 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii wu:fb17f05 31
  • 39 (a)
ManyToMany
zgc:92061 31
  • 38 (a)
ManyToMany
cyt1 31
  • 37 (a)
ManyToMany
cyt1l 31
  • 37 (a)
ManyToMany
krt17 31
  • 36 (a)
ManyToMany
zgc:109868 31
  • 36 (a)
ManyToMany
zgc:153629 31
  • 35 (a)
ManyToMany
zgc:92035 31
  • 34 (a)
ManyToMany
zgc:136902 31
  • 34 (a)
ManyToMany
krt15 31
  • 34 (a)
ManyToMany
krt1-19d 31
  • 33 (a)
ManyToMany
si:dkeyp-113d7.4 31
  • 31 (a)
ManyToMany
zgc:92533 31
  • 19 (a)
ManyToMany
BX469912.1 31
  • 19 (a)
ManyToMany
Species where no ortholog for KRT38 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • 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 squirt (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)

Evolution for KRT38 Gene

ENSEMBL:
Gene Tree for KRT38 (if available)
TreeFam:
Gene Tree for KRT38 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT38: view image

Paralogs for KRT38 Gene

(32) SIMAP similar genes for KRT38 Gene using alignment to 1 proteins:

  • KRT38_HUMAN

Pseudogenes.org Pseudogenes for KRT38 Gene

genes like me logo Genes that share paralogs with KRT38: view

Variants for KRT38 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT38 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs897416 - p.Ser423Pro

Additional dbSNP identifiers (rs#s) for KRT38 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRT38 Gene

Variant ID Type Subtype PubMed ID
esv2715932 CNV deletion 23290073
esv2758690 CNV gain+loss 17122850
nsv1071383 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv483014 CNV loss 15286789
nsv960489 CNV duplication 23825009

Variation tolerance for KRT38 Gene

Residual Variation Intolerance Score: 72.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT38 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT38

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT38 Gene

Disorders for KRT38 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KRT38 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nodular basal cell carcinoma
  • basal cell carcinoma, nodular
hair follicle neoplasm
  • hair matrix neoplasm
pilomatrixoma
  • pilomatricoma; ptr
- elite association - COSMIC cancer census association via MalaCards
Search KRT38 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KRT38

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KRT38: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT38 Gene

Publications for KRT38 Gene

  1. 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) 2 3 4 54
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 54
  3. 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 54
  4. Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease. (PMID: 15248378) Büning C … Witt H (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2004) 3 41 54
  5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54

Products for KRT38 Gene

Sources for KRT38 Gene