KRTAP29-1 (keratin associated like protein 29-1) - Rat Genome Database

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Gene: KRTAP29-1 (keratin associated like protein 29-1) Homo sapiens
Analyze
Symbol: KRTAP29-1
Name: keratin associated like protein 29-1
RGD ID: 5129240
HGNC Page HGNC:34211
Description: Predicted to enable structural molecule activity. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: KAP29.2; keratin associated protein 29-1; Keratin-associated protein 29-1; Keratin-associated protein 29.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381741,301,826 - 41,302,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,301,826 - 41,302,851 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,458,078 - 39,459,103 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17q21.2NCBI
HuRef1735,221,609 - 35,222,634 (-)NCBIHuRef
CHM1_11739,693,419 - 39,694,444 (-)NCBICHM1_1
T2T-CHM13v2.01742,157,318 - 42,158,343 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:16625196   PMID:18721477  


Genomics

Comparative Map Data
KRTAP29-1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,301,826 - 41,302,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,301,826 - 41,302,851 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,458,078 - 39,459,103 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17q21.2NCBI
HuRef1735,221,609 - 35,222,634 (-)NCBIHuRef
CHM1_11739,693,419 - 39,694,444 (-)NCBICHM1_1
T2T-CHM13v2.01742,157,318 - 42,158,343 (-)NCBIT2T-CHM13v2.0
Krtap29-1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391199,868,851 - 99,869,926 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1199,868,851 - 99,869,879 (-)EnsemblGRCm39 Ensembl
GRCm381199,978,025 - 99,979,100 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1199,978,025 - 99,979,053 (-)EnsemblGRCm38mm10GRCm38
Cytogenetic Map11DNCBI
cM Map1163.32NCBI
Krtap29-1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81085,409,149 - 85,410,407 (-)NCBIGRCr8
mRatBN7.21084,908,983 - 84,910,002 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1084,908,983 - 84,910,002 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01087,890,266 - 87,891,285 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01087,676,583 - 87,677,602 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Cytogenetic Map10q31NCBI
Krtap29-1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545115,702,932 - 15,712,934 (-)NCBIChiLan1.0ChiLan1.0
KRTAP29-1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21923,681,883 - 23,682,908 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11725,571,880 - 25,572,905 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01716,013,843 - 16,014,868 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11716,231,329 - 16,232,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1716,231,329 - 16,232,354 (+)Ensemblpanpan1.1panPan2
KRTAP29-1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1921,454,194 - 21,455,680 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha920,919,715 - 20,920,698 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0922,179,007 - 22,179,990 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1920,964,885 - 20,965,868 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0921,231,469 - 21,232,452 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0921,337,475 - 21,338,458 (+)NCBIUU_Cfam_GSD_1.0
Krtap29-1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560220,805,816 - 20,806,802 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493649016,268,337 - 16,269,323 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRTAP29-1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1221,285,325 - 21,286,407 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11221,285,264 - 21,286,575 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KRTAP29-1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,918,394 - 64,921,743 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1664,919,938 - 64,920,960 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607735,765,165 - 35,766,396 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krtap29-1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247952,237,513 - 2,238,577 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
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 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 17q23.2-25.3(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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:288
Count of miRNA genes:274
Interacting mature miRNAs:282
Transcripts:ENST00000391353
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

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
147 315 680 248 1167 222 429 2 160 954 43 916 1649 1570 7 388 258 551 298 120

Sequence


Ensembl Acc Id: ENST00000391353   ⟹   ENSP00000375148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,301,826 - 41,302,851 (-)Ensembl
RefSeq Acc Id: NM_001257309   ⟹   NP_001244238
RefSeq Status: INFERRED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,301,826 - 41,302,851 (-)NCBI
GRCh371739,458,078 - 39,459,103 (-)NCBI
HuRef1735,221,609 - 35,222,634 (-)NCBI
CHM1_11739,693,419 - 39,694,444 (-)NCBI
T2T-CHM13v2.01742,157,318 - 42,158,343 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001244238 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A8MX34 (Get FASTA)   NCBI Sequence Viewer  
  EAW60724 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000375148
  ENSP00000375148.1
  ENSP00000459109.1
  ENSP00000461202.1
  ENSP00000517799.1
RefSeq Acc Id: NP_001244238   ⟸   NM_001257309
- UniProtKB: A8MX34 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000375148   ⟸   ENST00000391353

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MX34-F1-model_v2 AlphaFold A8MX34 1-341 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34211 AgrOrtholog
COSMIC KRTAP29-1 COSMIC
Ensembl Genes ENSG00000212658 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000262218 UniProtKB/Swiss-Prot
  ENSG00000262542 UniProtKB/Swiss-Prot
  ENSG00000292050 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000391353 ENTREZGENE
  ENST00000391353.1 UniProtKB/Swiss-Prot
  ENST00000574737.1 UniProtKB/Swiss-Prot
  ENST00000576125.1 UniProtKB/Swiss-Prot
  ENST00000709614.1 UniProtKB/Swiss-Prot
GTEx ENSG00000212658 GTEx
  ENSG00000262218 GTEx
  ENSG00000262542 GTEx
  ENSG00000292050 GTEx
HGNC ID HGNC:34211 ENTREZGENE
Human Proteome Map KRTAP29-1 Human Proteome Map
InterPro KAP UniProtKB/Swiss-Prot
  Keratin_matx UniProtKB/Swiss-Prot
KEGG Report hsa:100533177 UniProtKB/Swiss-Prot
NCBI Gene 100533177 ENTREZGENE
PANTHER KERATIN ASSOCIATED PROTEIN 3-3-RELATED UniProtKB/Swiss-Prot
  KERATIN-ASSOCIATED PROTEIN 26-1 UniProtKB/Swiss-Prot
Pfam Keratin_B2_2 UniProtKB/Swiss-Prot
PharmGKB PA165432061 PharmGKB
UniProt A8MX34 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 KRTAP29-1  keratin associated like protein 29-1    keratin associated protein 29-1  Symbol and/or name change 5135510 APPROVED