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This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]
KRTAP10-5 (Keratin Associated Protein 10-5) is a Protein Coding gene. Diseases associated with KRTAP10-5 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is KRTAP10-1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH21J044580 | Promoter | 0.6 | Ensembl | 600.7 | -0.1 | -97 | 0.2 | ZIC2 PKNOX1 ZNF687 MNT | KRTAP10-5 lnc-KRTAP10-5-1 KRTAP10-9 KRTAP10-2 KRTAP10-10 KRTAP10-11 KRTAP10-1 KRTAP12-3 TSPEAR-AS2 TSPEAR-AS1 | |
GH21J044876 | Enhancer | 1.4 | FANTOM5 ENCODE dbSUPER | 1.4 | -300.6 | -300596 | 7.2 | HNRNPL GATAD2A TFE3 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 ZNF7 JUND | lnc-FAM207A-4 UBE2G2 PTTG1IP POFUT2 SUMO3 LINC01424 KRTAP10-6 KRTAP12-2 KRTAP10-11 KRTAP12-1 | |
GH21J044574 | Enhancer | 0.8 | ENCODE | 0.4 | +5.5 | 5545 | 0.2 | HNRNPL GATAD2A RXRB IRF2 SP1 GABPA SOX13 TGIF2 TEAD1 TFDP1 | KRTAP10-4 lnc-KRTAP10-7-1 KRTAP10-5 TSPEAR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | IEA | -- |
GO:0045095 | keratin filament | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology | ||
2 | Keratinization |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031424 | keratinization | TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRTAP10-5 30 |
|
||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Gm10318 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4435n100 | CNV | gain | 25217958 |
esv2660233 | CNV | deletion | 23128226 |
esv2723638 | CNV | deletion | 23290073 |
esv2723674 | CNV | deletion | 23290073 |
esv2751931 | CNV | loss | 17911159 |
esv33817 | CNV | loss | 17666407 |
esv3647132 | CNV | gain | 21293372 |
esv7169 | OTHER | inversion | 19470904 |
nsv1055163 | CNV | gain | 25217958 |
nsv1061423 | CNV | gain | 25217958 |
nsv587810 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
three m syndrome 1 |
|
|