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KRTAP16-1 Gene

protein-coding   GIFtS: 27
GCID: GC17M039463          (predicted)

Keratin Associated Protein 16-1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Keratin Associated Protein 16-11 2
KAP16.12 3
Keratin-Associated Protein 16-12
Putative Keratin-Associated Protein 10-Like ENSP000003751472

External Ids:    HGNC: 189161   Entrez Gene: 1005057532   Ensembl: ENSG000002126577   UniProtKB: A8MUX03   

Export aliases for KRTAP16-1 gene to outside databases

Previous GC identifers: GC17U900020 GC17M039372 GC17M039837 GC17M036719


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KRTAP16-1 Gene:
KRTAP16-1 (keratin associated protein 16-1) is a protein-coding gene. Diseases associated with KRTAP16-1 include fraser syndrome. An important paralog of this gene is KRTAP10-6.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for KRTAP16-1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KRTAP16-1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP16-1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

KRTAP16-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP16-1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039463:  view genomic region     (about GC identifiers)

Start:
39,463,952 bp from pter      End:
39,465,505 bp from pter
Size:
1,554 bases      Orientation:
minus strand

1 alternative location:
Chr17+,NW_003315953 131,008-132,561     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KR161_HUMAN, A8MUX0 (See protein sequence)
Recommended Name: Keratin-associated protein 16-1  
Size: 517 amino acids; 53912 Da

Explore the universe of human proteins at neXtProt for KRTAP16-1: NX_A8MUX0

Explore proteomics data for KRTAP16-1 at MOPED


See KRTAP16-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001139654.1  
ENSEMBL proteins: 
 ENSP00000375147  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
KRTAP: Keratin associated proteins

1 InterPro protein domain:
 IPR002494 Keratin-assoc

Graphical View of Domain Structure for InterPro Entry A8MUX0

ProtoNet protein and cluster: A8MUX0

UniProtKB/Swiss-Prot: KR161_HUMAN, A8MUX0
Similarity: Belongs to the KRTAP type 16 family


KRTAP16-1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRTAP16-1
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton2
cytosol2
mitochondrion2
extracellular1
nucleus1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0045095keratin filament IEA--

KRTAP16-1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRTAP16-1
Interactions:

    Search GeneGlobe Interaction Network for KRTAP16-1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for KRTAP16-1 (KR161)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KRTAP16-1 gene: 
NM_001146182.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000391352(uc021txi.1)
miRNA
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GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KRTAP16-1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CGTTGCTGTG
KRTAP16-1 Expression
About this image

KRTAP16-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP16-1 Protein Expression
    Custom PCR Arrays for KRTAP16-1
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for KRTAP16-1 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap16-15
Gm115701
predicted gene 115701, 5 80.11(n)1
76.05(a)1
  11 (63.33 cM)5
1005041831  NM_001256057.11  NP_001242986.11 
 999847105 


ENSEMBL Gene Tree for KRTAP16-1 (if available)
TreeFam Gene Tree for KRTAP16-1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRTAP16-1 gene
KRTAP10-62  KRTAP10-22  KRTAP10-112  KRTAP10-52  KRTAP10-92  KRTAP10-72  KRTAP10-102  KRTAP10-12  
KRTAP10-82  KRTAP10-32  KRTAP10-42  KRTAP10-122  KRTAP29-12  
8 SIMAP similar genes for KRTAP16-1 using alignment to 1 protein entry:     KR161_HUMAN:
KRTAP4-1    KRTAP4-7    KRTAP10-1    KRTAP10-5    KRTAP12-2    KRTAP4-9
KRTAP9-4    KRTAP10-11

KRTAP16-1 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for KRTAP16-1
PGOHUM00000237390


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KRTAP16-1 (see all 120)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1164031041,2
C,F--35231031(+) ATGCAG/TGGGGT 1 -- us2k11Minor allele frequency- T:0.08WA 118
rs1823348981,2
--35231032(+) TGCAGA/GGGGTG 1 -- us2k10--------
rs1173525621,2
F--35231033(+) GCAGGG/TGGTGG 1 -- us2k11Minor allele frequency- T:0.01EA 120
rs1389118901,2
--35231037(+) GGGGTA/GGATGC 1 -- us2k10--------
rs1925706011,2
--39463664(+) AAACTA/GCATGC 1 -- ds50010--------
rs1161984801,2
F--39463681(+) GAGACC/GCGAGA 1 -- ds50011Minor allele frequency- G:0.01WA 118
rs1493484561,2
C--39463719(+) TTAATC/TGTAGC 1 -- ds50010--------
rs1446982921,2
--39463720(+) TAATCA/GTAGCA 1 -- ds50010--------
rs20742881,2
C,F,A,H--39463730(-) TCTTGT/GCTTCT 1 -- ds500114Minor allele frequency- G:0.29NS EA NA WA CSA 767
rs20742871,2
C,F,O,A,H--39463819(-) CTTACC/ACCTCA 1 -- ds500116Minor allele frequency- A:0.27NA EA WA CSA 877

HapMap Linkage Disequilibrium report for KRTAP16-1 (39463952 - 39465505 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for KRTAP16-1:    About this table    
Variant IDTypeSubtypePubMed ID
dgv961e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KRTAP16-1
DNA2.0 Custom Variant and Variant Library Synthesis for KRTAP16-1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for KRTAP16-1:    
About MalaCards
fraser syndrome


KRTAP16-1 for disorders           About GeneDecksing

Genetic Association Database (GAD): KRTAP16-1

Export disorders for KRTAP16-1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KRTAP16-1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP16-1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (Nature 2006)
  2. Characterization of a cluster of human high/ultrahigh sulfur keratin- associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PubMed id 11279113)1 Rogers M.A....Schweizer J. (J. Biol. Chem. 2001)
  3. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)
  4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1 Hattori M.... Yaspo M.-L. (Nature 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 100505753 HGNC: 18916 Ensembl:ENSG00000212657 euGenes: HUgn100505753 ECgene: KRTAP16-1
H-InvDB: KRTAP16-1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KRTAP16-1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KRTAP16-1 gene:
Search GeneIP for patents involving KRTAP16-1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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