KRTAP3-3 (keratin associated protein 3-3) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: KRTAP3-3 (keratin associated protein 3-3) Homo sapiens
Analyze
Symbol: KRTAP3-3
Name: keratin associated protein 3-3
RGD ID: 1316737
HGNC Page HGNC:18890
Description: Predicted to enable structural molecule activity. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: high sulfur keratin-associated protein 3.3; KAP3.3; keratin-associated protein 3-3; keratin-associated protein 3.3; KRTAP3.3; MGC95374
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381740,993,430 - 40,994,164 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1740,993,430 - 40,994,164 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,149,682 - 39,150,416 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,403,208 - 36,403,911 (-)NCBINCBI36Build 36hg18NCBI36
Celera1735,811,286 - 35,811,989 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1734,944,705 - 34,945,408 (-)NCBIHuRef
CHM1_11739,385,416 - 39,386,119 (-)NCBICHM1_1
T2T-CHM13v2.01741,857,895 - 41,858,629 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11279113   PMID:12477932   PMID:15489334   PMID:17207965   PMID:23088713   PMID:25416956   PMID:25963833   PMID:32296183   PMID:35864588   PMID:36774506  


Genomics

Comparative Map Data
KRTAP3-3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381740,993,430 - 40,994,164 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1740,993,430 - 40,994,164 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,149,682 - 39,150,416 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,403,208 - 36,403,911 (-)NCBINCBI36Build 36hg18NCBI36
Celera1735,811,286 - 35,811,989 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1734,944,705 - 34,945,408 (-)NCBIHuRef
CHM1_11739,385,416 - 39,386,119 (-)NCBICHM1_1
T2T-CHM13v2.01741,857,895 - 41,858,629 (-)NCBIT2T-CHM13v2.0
Krtap3-3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391199,440,958 - 99,441,689 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1199,440,956 - 99,441,691 (-)EnsemblGRCm39 Ensembl
GRCm381199,550,132 - 99,550,863 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1199,550,130 - 99,550,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv371199,411,446 - 99,412,177 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,329,753 - 100,330,582 (-)NCBIMGSCv36mm8
MGSCv361199,366,222 - 99,366,953 (-)NCBIMGSCv36mm8
Cytogenetic Map11DNCBI
cM Map1162.92NCBI
Krtap3-3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81085,007,606 - 85,007,905 (-)NCBIGRCr8
mRatBN7.21084,511,459 - 84,511,758 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1084,517,977 - 84,518,988 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1084,511,092 - 84,511,812 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01087,468,002 - 87,468,697 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1087,467,991 - 87,468,711 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,264,855 - 87,265,154 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41088,497,766 - 88,498,065 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11088,511,768 - 88,519,640 (-)NCBI
Celera1083,250,727 - 83,251,422 (-)NCBICelera
Cytogenetic Map10q31NCBI
LOC103783813
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21923,957,823 - 23,958,685 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11725,848,415 - 25,849,157 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01716,289,544 - 16,290,404 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11716,515,015 - 16,515,312 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC102151831
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1921,687,965 - 21,688,695 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha921,161,381 - 21,162,085 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0922,474,934 - 22,475,638 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1921,255,684 - 21,256,388 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0921,514,544 - 21,515,248 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0921,638,381 - 21,639,085 (+)NCBIUU_Cfam_GSD_1.0
LOC110256008
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11221,469,579 - 21,470,654 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Variants

.
Variants in KRTAP3-3
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1 copy number loss See cases [RCV000137698] Chr17:40927571..41313858 [GRCh38]
Chr17:39083823..39470110 [GRCh37]
Chr17:36337349..36723636 [NCBI36]
Chr17:17q21.2		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.2(chr17:39043189-39492499)x1 copy number loss not provided [RCV000683934] Chr17:39043189..39492499 [GRCh37]
Chr17:17q21.2		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_033185.3(KRTAP3-3):c.8G>T (p.Cys3Phe) single nucleotide variant not specified [RCV004228873] Chr17:40994090 [GRCh38]
Chr17:39150342 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_033185.3(KRTAP3-3):c.22G>A (p.Gly8Ser) single nucleotide variant not specified [RCV004168487] Chr17:40994076 [GRCh38]
Chr17:39150328 [GRCh37]
Chr17:17q21.2		 likely benign
NM_033185.3(KRTAP3-3):c.178C>A (p.Pro60Thr) single nucleotide variant not specified [RCV004414875] Chr17:40993920 [GRCh38]
Chr17:39150172 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_033185.3(KRTAP3-3):c.220A>T (p.Thr74Ser) single nucleotide variant not specified [RCV004414876] Chr17:40993878 [GRCh38]
Chr17:39150130 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_033185.3(KRTAP3-3):c.143G>C (p.Cys48Ser) single nucleotide variant not specified [RCV004633776] Chr17:40993955 [GRCh38]
Chr17:39150207 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_033185.3(KRTAP3-3):c.136A>G (p.Thr46Ala) single nucleotide variant not specified [RCV004633775] Chr17:40993962 [GRCh38]
Chr17:39150214 [GRCh37]
Chr17:17q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:149
Count of miRNA genes:124
Interacting mature miRNAs:138
Transcripts:ENST00000391586
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-145068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,150,344 - 39,150,641UniSTSGRCh37
Build 361736,403,870 - 36,404,167RGDNCBI36
Celera1735,811,948 - 35,812,245RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q12-q21UniSTS
HuRef1734,945,367 - 34,945,664UniSTS
TNG Radiation Hybrid Map1718224.0UniSTS
UniSTS:480451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,149,979 - 39,150,385UniSTSGRCh37
Build 361736,403,505 - 36,403,911RGDNCBI36
Celera1735,811,583 - 35,811,989RGD
HuRef1734,945,002 - 34,945,408UniSTS
UniSTS:486954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,150,029 - 39,150,438UniSTSGRCh37
Build 361736,403,555 - 36,403,964RGDNCBI36
Celera1735,811,633 - 35,812,042RGD
HuRef1734,945,052 - 34,945,461UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
304 559 1089 511 1663 270 494 1 133 261 42 1309 1418 1366 5 661 223 593 306 93

Sequence


Ensembl Acc Id: ENST00000391586   ⟹   ENSP00000375428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1740,993,430 - 40,994,164 (-)Ensembl
RefSeq Acc Id: NM_033185   ⟹   NP_149441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,993,430 - 40,994,164 (-)NCBI
GRCh371739,149,682 - 39,150,385 (-)RGD
Build 361736,403,208 - 36,403,911 (-)NCBI Archive
Celera1735,811,286 - 35,811,989 (-)RGD
HuRef1734,944,705 - 34,945,408 (-)ENTREZGENE
CHM1_11739,385,416 - 39,386,119 (-)NCBI
T2T-CHM13v2.01741,857,895 - 41,858,629 (-)NCBI
Sequence:
RefSeq Acc Id: NP_149441   ⟸   NM_033185
- UniProtKB: Q52LP0 (UniProtKB/Swiss-Prot),   Q6NTD4 (UniProtKB/Swiss-Prot),   Q9BYR6 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000375428   ⟸   ENST00000391586

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYR6-F1-model_v2 AlphaFold Q9BYR6 1-98 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18890 AgrOrtholog
COSMIC KRTAP3-3 COSMIC
Ensembl Genes ENSG00000212899 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000263101 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000391586 ENTREZGENE
  ENST00000391586.3 UniProtKB/Swiss-Prot
  ENST00000572132.2 UniProtKB/Swiss-Prot
GTEx ENSG00000212899 GTEx
  ENSG00000263101 GTEx
HGNC ID HGNC:18890 ENTREZGENE
Human Proteome Map KRTAP3-3 Human Proteome Map
InterPro Keratin_matx UniProtKB/Swiss-Prot
KEGG Report hsa:85293 UniProtKB/Swiss-Prot
NCBI Gene 85293 ENTREZGENE
PANTHER KERATIN-ASSOCIATED PROTEIN 3-3 UniProtKB/Swiss-Prot
  PTHR23260 UniProtKB/Swiss-Prot
Pfam Keratin_matx UniProtKB/Swiss-Prot
PharmGKB PA38742 PharmGKB
UniProt KRA33_HUMAN UniProtKB/Swiss-Prot
  Q52LP0 ENTREZGENE
  Q6NTD4 ENTREZGENE
  Q9BYR6 ENTREZGENE
UniProt Secondary Q52LP0 UniProtKB/Swiss-Prot
  Q6NTD4 UniProtKB/Swiss-Prot