KRTAP9-6 (keratin associated protein 9-6) - Rat Genome Database

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Gene: KRTAP9-6 (keratin associated protein 9-6) Homo sapiens
Analyze
Symbol: KRTAP9-6
Name: keratin associated protein 9-6
RGD ID: 2799203
HGNC Page HGNC:18914
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: KAP9.6; keratin associated protein 9-like 2; keratin-associated protein 9-2-like 2-like; keratin-associated protein 9-6; KRTAP9.6; KRTAP9L2; putative keratin-associated protein 9-2-like 2
RGD Orthologs
Bonobo
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,265,378 - 41,265,860 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,265,378 - 41,265,860 (+)EnsemblGRCh38hg38GRCh38
GRCh371739,421,630 - 39,422,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17q21.2NCBI
HuRef1735,185,249 - 35,185,731 (+)NCBIHuRef
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

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:11279113   PMID:16625196  


Genomics

Comparative Map Data
KRTAP9-6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,265,378 - 41,265,860 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,265,378 - 41,265,860 (+)EnsemblGRCh38hg38GRCh38
GRCh371739,421,630 - 39,422,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17q21.2NCBI
HuRef1735,185,249 - 35,185,731 (+)NCBIHuRef
LOC100981175
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21923,707,108 - 23,708,172 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11725,597,104 - 25,598,168 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01716,039,486 - 16,040,134 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11716,256,990 - 16,257,471 (-)NCBIpanpan1.1PanPan1.1panPan2


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
GRCh37/hg19 17q21.2(chr17:39390337-39431656)x3 copy number gain not provided [RCV000752045] Chr17:39390337..39431656 [GRCh37]
Chr17:17q21.2		 benign
NC_000017.11:g.(?_41196311)_(41277501_?)del deletion Hereditary breast and ovarian cancer syndrome [RCV001254828] Chr17:41196311..41277501 [GRCh38]
Chr17:17q21.2		 pathogenic
NC_000017.11:g.(41258551_41267742)_(41267797_41276033)dup duplication Hereditary breast and ovarian cancer syndrome [RCV001254830] Chr17:41267742..41267797 [GRCh38]
Chr17:17q21.2		 pathogenic
NC_000017.11:g.(41223256_41226347)_(41267797_41276033)del deletion Hereditary breast and ovarian cancer syndrome [RCV001254835] Chr17:41226347..41267797 [GRCh38]
Chr17:17q21.2		 pathogenic
NC_000017.11:g.(41251898_41256138)_(41277501_?)del deletion Hereditary breast and ovarian cancer syndrome [RCV001254859] Chr17:41256138..41277501 [GRCh38]
Chr17:17q21.2		 pathogenic
NC_000017.11:g.(?_41196311)_(41276133_41277287)del deletion Hereditary breast and ovarian cancer syndrome [RCV001254832] Chr17:41196311..41276133 [GRCh38]
Chr17:17q21.2		 pathogenic
NC_000017.11:g.(41258551_41267742)_(41267797_41276033)del deletion Hereditary breast and ovarian cancer syndrome [RCV001254858] Chr17:41267742..41267797 [GRCh38]
Chr17:17q21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:334
Count of miRNA genes:287
Interacting mature miRNAs:292
Transcripts:ENST00000391355
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 56 17
Low 4 1 21 136 3 7 6 2 10 2 52
Below cutoff 279 237 179 58 236 37 880 214 344 103 261 357 31 102 425 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000391355   ⟹   ENSP00000375150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,265,378 - 41,265,860 (+)Ensembl
RefSeq Acc Id: NM_001277331   ⟹   NP_001264260
RefSeq Status: INFERRED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,265,378 - 41,265,860 (+)NCBI
HuRef1735,185,249 - 35,185,731 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001264260 (Get FASTA)   NCBI Sequence Viewer  
  XP_003846529 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A8MVA2 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000375150
  ENSP00000375150.1
  ENSP00000460240.2
  ENSP00000460691.1
Reference Protein Sequences
RefSeq Acc Id: NP_001264260   ⟸   NM_001277331
- UniProtKB: A8MVA2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000375150   ⟸   ENST00000391355

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MVA2-F1-model_v2 AlphaFold A8MVA2 1-160 view protein structure
AF-A0A140TA67-F1-model_v2 AlphaFold A0A140TA67 1-174 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18914 AgrOrtholog
COSMIC KRTAP9-6 COSMIC
Ensembl Genes ENSG00000212659 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000263263 UniProtKB/Swiss-Prot
  ENSG00000267635 UniProtKB/TrEMBL
Ensembl Transcript ENST00000391355 ENTREZGENE
  ENST00000391355.2 UniProtKB/Swiss-Prot
  ENST00000574248.2 UniProtKB/TrEMBL
  ENST00000576511.1 UniProtKB/Swiss-Prot
GTEx ENSG00000212659 GTEx
  ENSG00000263263 GTEx
  ENSG00000267635 GTEx
HGNC ID HGNC:18914 ENTREZGENE
Human Proteome Map KRTAP9-6 Human Proteome Map
InterPro KAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100507608 UniProtKB/Swiss-Prot
NCBI Gene 100507608 ENTREZGENE
PANTHER KERATIN ASSOCIATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KERATIN-ASSOCIATED PROTEIN 9-6 UniProtKB/Swiss-Prot
  KERATIN-ASSOCIATED PROTEIN 9-8 UniProtKB/TrEMBL
Pfam Keratin_B2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38761 PharmGKB
UniProt A0A140TA67 ENTREZGENE, UniProtKB/TrEMBL
  A8MVA2 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-05-12 KRTAP9-6  keratin associated protein 9-6  KRTAP9-6  keratin associated protein 9-6  Data merged from RGD:1352438 737654 PROVISIONAL
2014-09-24 KRTAP9-6  keratin associated protein 9-6  KRTAP9L2  keratin associated protein 9-like 2  Symbol and/or name change 5135510 APPROVED