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Aliases for KRTAP5-11 Gene
Aliases for KRTAP5-11 Gene
External Ids for KRTAP5-11 Gene
- HGNC: 23606
- NCBI Entrez Gene: 440051
- Ensembl: ENSG00000204571
- UniProtKB/Swiss-Prot: Q6L8G4
Previous GeneCards Identifiers for KRTAP5-11 Gene
- GC00U913948
- GC11U900627
- GC11M070971
- GC11M071291
- GC11M067586
- GC11M071297
Summaries for KRTAP5-11 Gene
GeneCards Summary for KRTAP5-11 Gene
KRTAP5-11 (Keratin Associated Protein 5-11) is a Protein Coding gene. Diseases associated with KRTAP5-11 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization.
UniProtKB/Swiss-Prot Summary for KRTAP5-11 Gene
-
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 KRTAP5-11 Gene
- HGNC (23606)
- NCBI Entrez Gene (440051)
- Ensembl (ENSG00000204571)
- UniProtKB/Swiss-Prot (Q6L8G4)
- Open Targets Platform(ENSG00000204571)
- Alliance of Genome Resources
- Search for KRTAP5-11 at DataMed
- Search for KRTAP5-11 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP5-11 Gene
Genomics for KRTAP5-11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KRTAP5-11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KRTAP5-11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP5-11
- Top Transcription factor binding sites by QIAGEN in the KRTAP5-11 gene promoter:
-
- c-Myb
- Elk-1
- FOXO3b
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- TBP
- TFIID
Genomic Locations for KRTAP5-11 Gene
Latest Assembly
- chr11:71,579,714-71,603,353
- (GRCh38/hg38)
- Size:
- 23,640 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:71,292,901-71,293,921
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 1,021 bases
- Orientation:
- Minus strand
Genomic View for KRTAP5-11 Gene
Genes around KRTAP5-11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.4 by HGNC
- 11q13.4 by Entrez Gene
- 11q13.4 by Ensembl
KRTAP5-11 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 KRTAP5-11 Gene
Proteins for KRTAP5-11 Gene
-
Protein details for KRTAP5-11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6L8G4-KR511_HUMAN
- Recommended name:
- Keratin-associated protein 5-11
- Protein Accession:
- Q6L8G4
Protein attributes for KRTAP5-11 Gene
- Size:
- 156 amino acids
- Molecular mass:
- 14610 Da
- Quaternary structure:
-
- Interacts with hair keratins.
Post-translational modifications for KRTAP5-11 Gene
Other Protein References for KRTAP5-11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KRTAP5-11
- Origene Custom Protein Services for KRTAP5-11
- antibodies-online: Show 3 available KRTAP5-11 Proteins ranked by validation data
- Compare Top KRTAP5-11 Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for KRTAP5-11 Gene
Domains & Families for KRTAP5-11 Gene
Gene Families for KRTAP5-11 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KRTAP5-11 Gene
- InterPro:
Suggested Antigen Peptide Sequences for KRTAP5-11 Gene
- GenScript: Design optimal peptide antigens:
-
- Ultrahigh sulfur keratin-associated protein 5.11 (KR511_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6L8G4- Family:
-
- Belongs to the KRTAP type 5 family.
Function for KRTAP5-11 Gene
Molecular function for KRTAP5-11 Gene
- UniProtKB/Swiss-Prot Function:
- In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 From GWAS Catalog for KRTAP5-11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 32296183 |
Phenotypes for KRTAP5-11 Gene
- GenomeRNAi human phenotypes for KRTAP5-11:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KRTAP5-11 - Starting at $85 >
- * KRTAP5-11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KRTAP5-11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRTAP5-11
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP5-11
miRNA for KRTAP5-11 Gene
- miRTarBase miRNAs that target KRTAP5-11
miRNA products for research
Inhibitory RNAs for research
- Origene shrna and sirna products in human, mouse, rat for KRTAP5-11
- Browse OriGene Inhibitory RNA Products For KRTAP5-11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-11
Clone products for research
- Applied Biological Materials (abm): Clones for KRTAP5-11 - Starting at $45 >
- * KRTAP5-11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KRTAP5-11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRTAP5-11
Cell Lines for research
-
Horizon Cell Lines for KRTAP5-11
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-11 Gene
Localization for KRTAP5-11 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| cytoskeleton | 2 |
| 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 KRTAP5-11 Gene
Pathways & Interactions for KRTAP5-11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology | ||
| 2 | Keratinization |
.33
|
|
Pathways by source for KRTAP5-11 Gene
2 Reactome pathways for KRTAP5-11 Gene
Interacting Proteins for KRTAP5-11 Gene
Selected Interacting proteins:
Q6L8G4-KR511_HUMAN
ENSP00000381541
for KRTAP5-11 Gene via
UniProtKB
STRING
GPS-Prot Interaction Network for KRTAP5-11
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031424 | keratinization | TAS | -- |
No data available for SIGNOR curated interactions for KRTAP5-11 Gene
Transcripts for KRTAP5-11 Gene
mRNA/cDNA for KRTAP5-11 Gene
- 1 REFSEQ mRNAs :
- 4 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000398530 1021 nts (view in UCSC)
- ENST00000526239 628 nts (view in UCSC)
- ENST00000617152 558 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KRTAP5-11 - Starting at $85 >
- * KRTAP5-11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KRTAP5-11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRTAP5-11
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP5-11
miRNA products for research
Inhibitory RNAs for research
- Origene shrna and sirna products in human, mouse, rat for KRTAP5-11
- Browse OriGene Inhibitory RNA Products For KRTAP5-11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-11
Clone products for research
- Applied Biological Materials (abm): Clones for KRTAP5-11 - Starting at $45 >
- * KRTAP5-11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KRTAP5-11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRTAP5-11
Relevant External Links for KRTAP5-11 Gene
- GeneLoc Exon Structure for
- KRTAP5-11
Expression for KRTAP5-11 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP5-11
SOURCE GeneReport for Unigene cluster for KRTAP5-11 Gene:
Hs.679617mRNA Expression by UniProt/SwissProt for KRTAP5-11 Gene:
Q6L8G4-KR511_HUMAN
Tissue specificity:
Restricted to hair root, not detected in any other tissues.
Evidence on tissue expression from TISSUES for KRTAP5-11 Gene
- Skin(4)
Primer products for research
-
OriGene qPCR primer pairs for KRTAP5-11
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 KRTAP5-11 Gene
Orthologs for KRTAP5-11 Gene
Evolution for KRTAP5-11 Gene
- ENSEMBL:
- Gene Tree for KRTAP5-11 (if available)
- TreeFam:
- Gene Tree for KRTAP5-11 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KRTAP5-11: view image
- Alliance of Genome Resources:
- Additional Orthologs for KRTAP5-11
No data available for Orthologs for KRTAP5-11 Gene
Paralogs for KRTAP5-11 Gene
No data available for Paralogs for KRTAP5-11 Gene
Variants for KRTAP5-11 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1222n100 | CNV | gain | 25217958 |
| esv3892025 | CNV | gain | 25118596 |
| nsv1043207 | CNV | gain | 25217958 |
| nsv825988 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.52;
29.50% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KRTAP5-11 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP5-11 Gene
Disorders for KRTAP5-11 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| three m syndrome 1 |
|
|
Search KRTAP5-11 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KRTAP5-11
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP5-11 Gene
Publications for KRTAP5-11 Gene
- Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S … Shimizu N (Biochemical and biophysical research communications 2004) 2 3 4
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
- 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
Products for KRTAP5-11 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KRTAP5-11
- Origene Custom Protein Services for KRTAP5-11
- Origene shrna and sirna products in human, mouse, rat for KRTAP5-11
- Browse OriGene Inhibitory RNA Products For KRTAP5-11
- OriGene qPCR primer pairs for KRTAP5-11
- OriGene CRISPR knockouts for KRTAP5-11
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For KRTAP5-11
- Sino Biological Human cDNA Clone for KRTAP5-11
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- VectorBuilder Custom and pre-made DNA vectors for KRTAP5-11 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for KRTAP5-11 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for KRTAP5-11 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for KRTAP5-11 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for KRTAP5-11
- antibodies-online: Search results for available KRTAP5-11 related products ranked by validation data
- antibodies-online: Search results for available KRTAP5-11 related products ranked by validation data
- antibodies-online: Show 3 available KRTAP5-11 Proteins ranked by validation data
- Compare Top KRTAP5-11 Proteins
- Quality Products:
- Horizon Cell Lines for KRTAP5-11
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRTAP5-11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRTAP5-11
- Search GeneCopoeia for miRNA 3'UTR Target clone products for KRTAP5-11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-11
Sources for KRTAP5-11 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources