Aliases for KRTAP12-1 Gene
Aliases for KRTAP12-1 Gene
External Ids for KRTAP12-1 Gene
- HGNC: 20529
- Entrez Gene: 353332
- Ensembl: ENSG00000187175
- UniProtKB: P59990
Previous GeneCards Identifiers for KRTAP12-1 Gene
- GC21U900088
- GC21M044957
- GC21M044925
- GC21M046101
- GC21M031475
Summaries for KRTAP12-1 Gene
GeneCards Summary for KRTAP12-1 Gene
KRTAP12-1 (Keratin Associated Protein 12-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP12-2.
UniProtKB/Swiss-Prot for KRTAP12-1 Gene
-
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
Additional gene information for KRTAP12-1 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP12-1 Gene
Genomics for KRTAP12-1 Gene
GeneHancer (GH) Regulatory Elements for KRTAP12-1 Gene
Promoters and enhancers for KRTAP12-1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KRTAP12-1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for KRTAP12-1 Gene
Genomic Locations for KRTAP12-1 Gene
- chr21:44,681,576-44,682,163
- (GRCh38/hg38)
- Size:
- 588 bases
- Orientation:
- Minus strand
- chr21:46,101,491-46,102,078
- (GRCh37/hg19)
Genomic View for KRTAP12-1 Gene
Genes around KRTAP12-1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by Ensembl
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
KRTAP12-1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KRTAP12-1 Gene
Proteins for KRTAP12-1 Gene
-
Protein details for KRTAP12-1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P59990-KR121_HUMAN
- Recommended name:
- Keratin-associated protein 12-1
- Protein Accession:
- P59990
- Q0VAS3
Protein attributes for KRTAP12-1 Gene
- Size:
- 96 amino acids
- Molecular mass:
- 9737 Da
- Quaternary structure:
-
- Interacts with hair keratins.
Post-translational modifications for KRTAP12-1 Gene
No Post-translational modifications
Other Protein References for KRTAP12-1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KRTAP12-1
- Origene Custom Protein Services for KRTAP12-1
- Search GeneTex for Proteins for KRTAP12-1
Assay Products
No data available for DME Specific Peptides for KRTAP12-1 Gene
Domains & Families for KRTAP12-1 Gene
Gene Families for KRTAP12-1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for KRTAP12-1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P59990- Family:
-
- Belongs to the KRTAP type 12 family.
Function for KRTAP12-1 Gene
Molecular function for KRTAP12-1 Gene
- UniProtKB/Swiss-Prot Function:
- In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for KRTAP12-1 Gene
- GenomeRNAi human phenotypes for KRTAP12-1:
Animal Model Products
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- Cyagen custom Knockout/knockin (KOKI) mouse models for KRTAP12-1
-
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP12-1 gene
- Search ViGene Biosciences for KRTAP12-1
CRISPR Products
- Browse CRISPR knockouts for KRTAP12-1
- genomics-online: gRNA clones - Search results for 50 available KRTAP12-1 gene related products
- Overview of 50 available KRTAP12-1 gene related products
- Applied Biological Materials CRISPR for KRTAP12-1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP12-1
- GenScript: Design CRISPR guide RNA sequences for KRTAP12-1
miRNA Products
- Search ViGene Biosciences for KRTAP12-1
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for 50 available KRTAP12-1 gene related products
- Overview of 50 available KRTAP12-1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP12-1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KRTAP12-1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRTAP12-1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for KRTAP12-1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KRTAP12-1
-
ViGene Biosciences adenoviral particle packaged cDNA for KRTAP12-1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP12-1 gene
- Search ViGene Biosciences for KRTAP12-1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP12-1 Gene
Localization for KRTAP12-1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 3 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005882 | intermediate filament | IEA | -- |
| GO:0045095 | keratin filament | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP12-1 Gene
Pathways & Interactions for KRTAP12-1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology | ||
| 2 | Keratinization |
.33
|
|
Pathways by source for KRTAP12-1 Gene
2 Reactome pathways for KRTAP12-1 Gene
Interacting Proteins for KRTAP12-1 Gene
Selected Interacting proteins:
ENSP00000375475
P59990-KR121_HUMAN
for KRTAP12-1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031424 | keratinization | TAS | -- |
No data available for SIGNOR curated interactions for KRTAP12-1 Gene
Transcripts for KRTAP12-1 Gene
mRNA/cDNA for KRTAP12-1 Gene
- (1) REFSEQ mRNAs :
- (3) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for KRTAP12-1
- genomics-online: gRNA clones - Search results for 50 available KRTAP12-1 gene related products
- Overview of 50 available KRTAP12-1 gene related products
- Applied Biological Materials CRISPR for KRTAP12-1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP12-1
- GenScript: Design CRISPR guide RNA sequences for KRTAP12-1
miRNA Products
- Search ViGene Biosciences for KRTAP12-1
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for 50 available KRTAP12-1 gene related products
- Overview of 50 available KRTAP12-1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP12-1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KRTAP12-1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRTAP12-1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for KRTAP12-1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KRTAP12-1 Gene
mRNA differential expression in normal tissues according to GTEx for KRTAP12-1 Gene
This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.9) and Skin - Sun Exposed (Lower leg) (x7.1).
SOURCE GeneReport for Unigene cluster for KRTAP12-1 Gene:
Hs.688628mRNA Expression by UniProt/SwissProt for KRTAP12-1 Gene:
P59990-KR121_HUMAN
Tissue specificity:
Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.
Evidence on tissue expression from TISSUES for KRTAP12-1 Gene
- Skin(4.1)
Primer Products
- genomics-online: primer clones - Search results for 50 available KRTAP12-1 gene related products
- Overview of 50 available KRTAP12-1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP12-1 Gene
Orthologs for KRTAP12-1 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KRTAP12-1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | LOC101056229 33 |
|
||
| Gm10142 34 |
|
ManyToMany | |||
| Gm29802 16 |
|
|
|||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
ManyToMany |
- Species where no ortholog for KRTAP12-1 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)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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)
- zebrafish (Danio rerio)
Paralogs for KRTAP12-1 Gene
Variants for KRTAP12-1 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000844834 | -- | 44,682,357(-) | G/C | upstream_transcript_variant | |
| rs1002451053 | -- | 44,683,236(-) | C/A/T | upstream_transcript_variant | |
| rs1004450692 | -- | 44,683,563(-) | G/T | upstream_transcript_variant | |
| rs1008546938 | -- | 44,682,303(-) | T/C | upstream_transcript_variant | |
| rs1015362864 | -- | 44,683,293(-) | G/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2723675 | CNV | deletion | 23290073 |
| esv2723676 | CNV | deletion | 23290073 |
| esv2760705 | CNV | gain | 21179565 |
| nsv587811 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.84;
58.68% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KRTAP12-1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KRTAP12-1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP12-1 Gene
Disorders for KRTAP12-1 Gene
Additional Disease Information for KRTAP12-1
No disorders were found for KRTAP12-1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP12-1 Gene
Publications for KRTAP12-1 Gene
- Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers MA … Schweizer J (The Journal of investigative dermatology 2004) 3 4 58
- A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PMID: 15028290) Shibuya K … Shimizu N (Genomics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
Products for KRTAP12-1 Gene
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- VectorBuilder custom plasmid, inducible vectors for KRTAP12-1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRTAP12-1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available KRTAP12-1 related products ranked by validation data
- antibodies-online: Search results for available KRTAP12-1 related products ranked by validation data
- antibodies-online: Search results for available KRTAP12-1 related products ranked by validation data
- Search GeneTex for Antibodies for KRTAP12-1
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- ViGene Biosciences adenoviral particle packaged cDNA for KRTAP12-1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for KRTAP12-1 gene
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- Horizon Cell Lines for KRTAP12-1
- genomics-online: cdna clones - Search results for 50 available KRTAP12-1 gene related products
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- Overview of 50 available KRTAP12-1 gene related products
Sources for KRTAP12-1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (133) ENCODE
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- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems