KRTAP5-7 (keratin associated protein 5-7) - Rat Genome Database

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Gene: KRTAP5-7 (keratin associated protein 5-7) Homo sapiens
Analyze
No known orthologs.
Symbol: KRTAP5-7
Name: keratin associated protein 5-7
RGD ID: 1605178
HGNC Page HGNC:23602
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: keratin-associated protein 5-3; keratin-associated protein 5-7; keratin-associated protein 5.3; keratin-associated protein 5.7; KRTAP5-3; KRTAP5.7; ultrahigh sulfur keratin-associated protein 5.7
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381171,527,267 - 71,528,669 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1171,527,267 - 71,528,669 (+)EnsemblGRCh38hg38GRCh38
GRCh371171,238,313 - 71,239,715 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361170,915,961 - 70,916,858 (+)NCBINCBI36Build 36hg18NCBI36
Celera1168,531,695 - 68,532,592 (+)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1167,531,950 - 67,532,877 (+)NCBIHuRef
CHM1_11171,122,329 - 71,123,226 (+)NCBICHM1_1
T2T-CHM13v2.01171,454,281 - 71,455,713 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15144888   PMID:32296183   PMID:36949045  


Genomics

Variants

.
Variants in KRTAP5-7
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 copy number gain See cases [RCV000051910] Chr11:71164008..72309374 [GRCh38]
Chr11:71088949..72020418 [GRCh37]
Chr11:70552702..71698066 [NCBI36]
Chr11:11q13.4		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.4(chr11:71118826-71279571)x3 copy number gain not provided [RCV000750109] Chr11:71118826..71279571 [GRCh37]
Chr11:11q13.4		 benign
GRCh37/hg19 11q13.4(chr11:71051703-71655505)x3 copy number gain not provided [RCV002472868] Chr11:71051703..71655505 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_71146401)_(71907241_?)dup duplication Cerebral folate transport deficiency [RCV001031374] Chr11:71146401..71907241 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001012503.2(KRTAP5-7):c.416C>G (p.Ser139Cys) single nucleotide variant not specified [RCV004207047] Chr11:71527716 [GRCh38]
Chr11:71238762 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.20C>T (p.Ser7Phe) single nucleotide variant not specified [RCV004143655] Chr11:71527320 [GRCh38]
Chr11:71238366 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.253G>T (p.Gly85Trp) single nucleotide variant not specified [RCV004128249] Chr11:71527553 [GRCh38]
Chr11:71238599 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.412T>C (p.Ser138Pro) single nucleotide variant not specified [RCV004207046] Chr11:71527712 [GRCh38]
Chr11:71238758 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.437G>A (p.Cys146Tyr) single nucleotide variant not specified [RCV004162159] Chr11:71527737 [GRCh38]
Chr11:71238783 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.431G>A (p.Ser144Asn) single nucleotide variant not specified [RCV004096099] Chr11:71527731 [GRCh38]
Chr11:71238777 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.451T>C (p.Ser151Pro) single nucleotide variant not specified [RCV004198043] Chr11:71527751 [GRCh38]
Chr11:71238797 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.245G>T (p.Gly82Val) single nucleotide variant not specified [RCV004281746] Chr11:71527545 [GRCh38]
Chr11:71238591 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.109G>T (p.Val37Leu) single nucleotide variant not specified [RCV004354660] Chr11:71527409 [GRCh38]
Chr11:71238455 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.305G>T (p.Cys102Phe) single nucleotide variant not specified [RCV004347012] Chr11:71527605 [GRCh38]
Chr11:71238651 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.244G>A (p.Gly82Ser) single nucleotide variant not specified [RCV004335121] Chr11:71527544 [GRCh38]
Chr11:71238590 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_001012503.2(KRTAP5-7):c.475G>A (p.Val159Met) single nucleotide variant not specified [RCV004406951] Chr11:71527775 [GRCh38]
Chr11:71238821 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001012503.2(KRTAP5-7):c.43G>T (p.Gly15Trp) single nucleotide variant not specified [RCV004639770] Chr11:71527343 [GRCh38]
Chr11:71238389 [GRCh37]
Chr11:11q13.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:217
Count of miRNA genes:202
Interacting mature miRNAs:205
Transcripts:ENST00000398536
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human


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
985 1798 2388 1398 4399 1381 1737 2 491 787 360 1765 4584 3972 29 3592 638 1414 1145 139

Sequence


Ensembl Acc Id: ENST00000398536   ⟹   ENSP00000417330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,527,267 - 71,528,669 (+)Ensembl
RefSeq Acc Id: NM_001012503   ⟹   NP_001012521
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381171,527,267 - 71,528,669 (+)NCBI
GRCh371171,238,313 - 71,239,210 (+)RGD
Build 361170,915,961 - 70,916,858 (+)NCBI Archive
Celera1168,531,695 - 68,532,592 (+)RGD
HuRef1167,531,950 - 67,532,877 (+)ENTREZGENE
CHM1_11171,122,329 - 71,123,226 (+)NCBI
T2T-CHM13v2.01171,454,281 - 71,455,713 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001012521 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI36968 (Get FASTA)   NCBI Sequence Viewer  
  AAI36969 (Get FASTA)   NCBI Sequence Viewer  
  BAD20203 (Get FASTA)   NCBI Sequence Viewer  
  CAF31636 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000417330
  ENSP00000417330.2
GenBank Protein Q6L8G8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001012521   ⟸   NM_001012503
- UniProtKB: Q701N5 (UniProtKB/Swiss-Prot),   Q6L8G8 (UniProtKB/Swiss-Prot),   B2RNM3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000417330   ⟸   ENST00000398536

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6L8G8-F1-model_v2 AlphaFold Q6L8G8 1-165 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23602 AgrOrtholog
COSMIC KRTAP5-7 COSMIC
Ensembl Genes ENSG00000244411 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000398536 ENTREZGENE
  ENST00000398536.6 UniProtKB/Swiss-Prot
GTEx ENSG00000244411 GTEx
HGNC ID HGNC:23602 ENTREZGENE
Human Proteome Map KRTAP5-7 Human Proteome Map
KEGG Report hsa:440050 UniProtKB/Swiss-Prot
NCBI Gene KRTAP5-7 ENTREZGENE
PharmGKB PA134880610 PharmGKB
UniProt B2RNM3 ENTREZGENE
  KRA57_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q701N5 ENTREZGENE
UniProt Secondary B2RNM3 UniProtKB/Swiss-Prot
  Q701N5 UniProtKB/Swiss-Prot