Aliases for KRTAP13-1 Gene
Aliases for KRTAP13-1 Gene
External Ids for KRTAP13-1 Gene
- HGNC: 18924
- Entrez Gene: 140258
- Ensembl: ENSG00000198390
- OMIM: 608718
- UniProtKB: Q8IUC0
Previous GeneCards Identifiers for KRTAP13-1 Gene
- GC21P028428
- GC21P030688
- GC21P030690
- GC21P031768
- GC21P017177
Summaries for KRTAP13-1 Gene
-
Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]
GeneCards Summary for KRTAP13-1 Gene
KRTAP13-1 (Keratin Associated Protein 13-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP13-2.
UniProtKB/Swiss-Prot for KRTAP13-1 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 KRTAP13-1 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP13-1 Gene
Genomics for KRTAP13-1 Gene
GeneHancer (GH) Regulatory Elements for KRTAP13-1 Gene
Promoters and enhancers for KRTAP13-1 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH21I030395 | Promoter | 0.5 | EPDnew | 550.8 | -0.1 | -60 | 0.1 | KRTAP13-1 PIR51762 LOC105372772 | ||
| GH21I030408 | Enhancer | 0.7 | ENCODE | 0.4 | +12.9 | 12944 | 0.2 | SIX4 CTCF PKNOX1 ZBTB21 MAX RAD21 FOXK2 POLR2A ZNF143 ZNF444 | KRTAP13-4 KRTAP13-1 KRTAP13-3 LOC105372772 | |
| GH21I030088 | Enhancer | 0.2 | FANTOM5 | 1.4 | -307.6 | -307632 | 0.4 | ENSG00000259981 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KRTAP13-1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KRTAP13-1 gene promoter:
Regulatory Element Products
Genomic Locations for KRTAP13-1 Gene
Genomic Locations for KRTAP13-1 Gene
- chr21:30,396,074-30,396,822
- (GRCh38/hg38)
- Size:
- 749 bases
- Orientation:
- Plus strand
- chr21:31,768,392-31,769,140
- (GRCh37/hg19)
Genomic View for KRTAP13-1 Gene
Genes around KRTAP13-1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.11 by Ensembl
- 21q22.11 by Entrez Gene
- 21q22.11 by HGNC
KRTAP13-1 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 KRTAP13-1 Gene
Proteins for KRTAP13-1 Gene
-
Protein details for KRTAP13-1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IUC0-KR131_HUMAN
- Recommended name:
- Keratin-associated protein 13-1
- Protein Accession:
- Q8IUC0
- Q14D20
- Q3LI79
Protein attributes for KRTAP13-1 Gene
- Size:
- 172 amino acids
- Molecular mass:
- 18320 Da
- Quaternary structure:
-
- Interacts with hair keratins.
- SequenceCaution:
-
- Sequence=AAI13537.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI13539.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for KRTAP13-1 Gene
Post-translational modifications for KRTAP13-1 Gene
Other Protein References for KRTAP13-1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KRTAP13-1
- Search GeneTex for Antibodies for KRTAP13-1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KRTAP13-1
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- Novus Biologicals proteins for KRTAP13-1
- Search GeneTex for Proteins for KRTAP13-1
-
Abcam proteins for KRTAP13-1
Assay Products
No data available for DME Specific Peptides for KRTAP13-1 Gene
Domains & Families for KRTAP13-1 Gene
Gene Families for KRTAP13-1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for KRTAP13-1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IUC0- Family:
-
- Belongs to the PMG family.
Function for KRTAP13-1 Gene
Molecular function for KRTAP13-1 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.
Phenotypes for KRTAP13-1 Gene
- GenomeRNAi human phenotypes for KRTAP13-1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP13-1 gene
- Search ViGene Biosciences for KRTAP13-1
CRISPR Products
- Browse CRISPR knockouts for KRTAP13-1
- genomics-online: gRNA clones - Search results for available KRTAP13-1 gene related products
- Applied Biological Materials CRISPR for KRTAP13-1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP13-1
miRNA Products
- Search ViGene Biosciences for KRTAP13-1
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for available KRTAP13-1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP13-1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KRTAP13-1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRTAP13-1
-
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
- genomics-online: cdna clones - Search results for available KRTAP13-1 gene related products
- orf clones - Search results for available KRTAP13-1 gene related products
- Applied Biological Materials Clones for KRTAP13-1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KRTAP13-1
-
ViGene Biosciences adenoviral particle packaged cDNA for KRTAP13-1 gene
-
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- Search ViGene Biosciences for KRTAP13-1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP13-1 Gene
Localization for KRTAP13-1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 3 |
| extracellular | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005882 | intermediate filament | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP13-1 Gene
Pathways & Interactions for KRTAP13-1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology | ||
| 2 | Keratinization |
.33
|
|
Pathways by source for KRTAP13-1 Gene
2 Reactome pathways for KRTAP13-1 Gene
Interacting Proteins for KRTAP13-1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031424 | keratinization | TAS | -- |
No data available for SIGNOR curated interactions for KRTAP13-1 Gene
Transcripts for KRTAP13-1 Gene
mRNA/cDNA for KRTAP13-1 Gene
- (1) REFSEQ mRNAs :
- (2) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for KRTAP13-1
- genomics-online: gRNA clones - Search results for available KRTAP13-1 gene related products
- Applied Biological Materials CRISPR for KRTAP13-1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP13-1
miRNA Products
- Search ViGene Biosciences for KRTAP13-1
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for available KRTAP13-1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP13-1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KRTAP13-1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRTAP13-1
-
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
- genomics-online: cdna clones - Search results for available KRTAP13-1 gene related products
- orf clones - Search results for available KRTAP13-1 gene related products
- Applied Biological Materials Clones for KRTAP13-1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KRTAP13-1 Gene
mRNA differential expression in normal tissues according to GTEx for KRTAP13-1 Gene
This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.9) and Skin - Sun Exposed (Lower leg) (x4.0).
This gene is overexpressed in Hair follicle (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRTAP13-1 Gene
SOURCE GeneReport for Unigene cluster for KRTAP13-1 Gene:
Hs.407653mRNA Expression by UniProt/SwissProt for KRTAP13-1 Gene:
Q8IUC0-KR131_HUMAN
Tissue specificity:
Weak expression seen in the late matrix and entire cortex area of the hair follicle.
Evidence on tissue expression from TISSUES for KRTAP13-1 Gene
- Skin(4)
Primer Products
- genomics-online: primer clones - Search results for available KRTAP13-1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP13-1 Gene
Orthologs for KRTAP13-1 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KRTAP13-1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KRTAP13-2 33 |
|
||
| -- 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | LOC100363184 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Krtap13-1 33 16 |
|
||
| 2310061N02Rik 34 |
|
ManyToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany |
- Species where no ortholog for KRTAP13-1 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)
- rainbow trout (Oncorhynchus mykiss)
- 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 KRTAP13-1 Gene
(4) SIMAP similar genes for KRTAP13-1 Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for KRTAP13-1 Gene
Variants for KRTAP13-1 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1001205997 | -- | 30,395,891(+) | G/A | upstream_transcript_variant | |
| rs1001750679 | -- | 30,397,312(+) | G/C | downstream_transcript_variant | |
| rs1001801557 | -- | 30,396,392(+) | T/C | coding_sequence_variant, synonymous_variant | |
| rs1002813246 | -- | 30,397,244(+) | A/G | downstream_transcript_variant | |
| rs1004044 | -- | 30,394,669(+) | C/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3646827 | CNV | gain | 21293372 |
| nsv1057467 | CNV | gain | 25217958 |
| nsv1060328 | CNV | loss | 25217958 |
| nsv587354 | CNV | gain | 21841781 |
| nsv587357 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.34;
41.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KRTAP13-1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KRTAP13-1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP13-1 Gene
Disorders for KRTAP13-1 Gene
Additional Disease Information for KRTAP13-1
No disorders were found for KRTAP13-1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP13-1 Gene
Publications for KRTAP13-1 Gene
- Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers MA … Schweizer J (The Journal of biological chemistry 2002) 2 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
- 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) 4 58
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
Products for KRTAP13-1 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for KRTAP13-1
- VectorBuilder custom plasmid, inducible vectors for KRTAP13-1
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- 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 KRTAP13-1 related products ranked by validation data
- antibodies-online: Search results for available KRTAP13-1 related products ranked by validation data
- antibodies-online: Search results for available KRTAP13-1 related products ranked by validation data
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- genomics-online: cdna clones - Search results for available KRTAP13-1 gene related products
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Sources for KRTAP13-1 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
- (19) MINT
- (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
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
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- (125) NCBI Bookshelf
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- (128) ViGene Biosciences
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (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