KRTAP4-8 (keratin associated protein 4-8) - Rat Genome Database

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Gene: KRTAP4-8 (keratin associated protein 4-8) Homo sapiens
Analyze
Symbol: KRTAP4-8
Name: keratin associated protein 4-8
RGD ID: 1342775
HGNC Page HGNC:17230
Description: Involved in hair cycle. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KAP4.8; keratin associated protein 4.8; keratin-associated protein 4-8; keratin-associated protein 4.8; KRTAP4.8; ultrahigh sulfur keratin-associated protein 4.8
RGD Orthologs
Mouse
Rat
Bonobo
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
GRCh381741,096,981 - 41,098,142 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,096,981 - 41,098,142 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,253,233 - 39,254,394 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,507,305 - 36,507,862 (-)NCBINCBI36Build 36hg18NCBI36
Celera1735,915,120 - 35,916,293 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,047,600 - 35,048,848 (-)NCBIHuRef
CHM1_11739,488,595 - 39,489,737 (-)NCBICHM1_1
T2T-CHM13v2.01741,961,756 - 41,962,929 (-)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

Biological Process
hair cycle  (IDA)

Cellular Component

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:11181995   PMID:11279113   PMID:15955084   PMID:16625196   PMID:21916889  


Genomics

Comparative Map Data
KRTAP4-8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,096,981 - 41,098,142 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,096,981 - 41,098,142 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,253,233 - 39,254,394 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,507,305 - 36,507,862 (-)NCBINCBI36Build 36hg18NCBI36
Celera1735,915,120 - 35,916,293 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,047,600 - 35,048,848 (-)NCBIHuRef
CHM1_11739,488,595 - 39,489,737 (-)NCBICHM1_1
T2T-CHM13v2.01741,961,756 - 41,962,929 (-)NCBIT2T-CHM13v2.0
Krtap4-25
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391199,548,768 - 99,549,785 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1199,548,775 - 99,549,786 (-)EnsemblGRCm39 Ensembl
GRCm381199,657,942 - 99,658,959 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1199,657,949 - 99,658,960 (-)EnsemblGRCm38mm10GRCm38
MGSCv371199,519,256 - 99,520,273 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361199,519,734 - 99,520,280NCBIMGSCv36mm8
Cytogenetic Map11DNCBI
cM Map1163.0NCBI
Krtap4-3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81085,252,776 - 85,268,638 (-)NCBIGRCr8
mRatBN7.21084,752,173 - 84,790,523 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1084,789,628 - 84,790,527 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01087,714,750 - 87,731,249 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1087,586,472 - 87,753,700 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,542,322 - 87,542,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41088,787,902 - 88,788,468 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1083,472,503 - 83,478,864 (-)NCBICelera
Cytogenetic Map10q31NCBI
LOC100979458
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21923,854,647 - 23,857,005 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11725,745,096 - 25,747,454 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01716,186,989 - 16,188,938 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11716,402,655 - 16,406,092 (+)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in KRTAP4-8
10 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 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 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
NM_031960.3(KRTAP4-8):c.502G>A (p.Ala168Thr) single nucleotide variant not specified [RCV000454872] Chr17:41097583 [GRCh38]
Chr17:39253835 [GRCh37]
Chr17:17q21.2		 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_031960.3(KRTAP4-8):c.527G>A (p.Arg176His) single nucleotide variant not specified [RCV004298212] Chr17:41097558 [GRCh38]
Chr17:39253810 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.431G>C (p.Cys144Ser) single nucleotide variant not specified [RCV004303633] Chr17:41097654 [GRCh38]
Chr17:39253906 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.377G>T (p.Arg126Leu) single nucleotide variant not specified [RCV004326868] Chr17:41097708 [GRCh38]
Chr17:39253960 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.227A>G (p.Lys76Arg) single nucleotide variant not specified [RCV004137115] Chr17:41097858 [GRCh38]
Chr17:39254110 [GRCh37]
Chr17:17q21.2		 likely benign
NM_031960.3(KRTAP4-8):c.532G>A (p.Val178Met) single nucleotide variant not specified [RCV004116493] Chr17:41097553 [GRCh38]
Chr17:39253805 [GRCh37]
Chr17:17q21.2		 likely benign
NM_031960.3(KRTAP4-8):c.488C>T (p.Thr163Ile) single nucleotide variant not specified [RCV004130863] Chr17:41097597 [GRCh38]
Chr17:39253849 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.541G>A (p.Ala181Thr) single nucleotide variant not specified [RCV004070068] Chr17:41097544 [GRCh38]
Chr17:39253796 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.25G>A (p.Val9Met) single nucleotide variant not specified [RCV004252624] Chr17:41098060 [GRCh38]
Chr17:39254312 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.532G>C (p.Val178Leu) single nucleotide variant not specified [RCV004289841] Chr17:41097553 [GRCh38]
Chr17:39253805 [GRCh37]
Chr17:17q21.2		 likely benign
NM_031960.3(KRTAP4-8):c.189_194CTG[2]CCACCCCAGATGCTGCATCTCCAGCTGCTG[1] (p.Cys65_Arg66insHisProArgCysCysIleSerSerCysCys) microsatellite not provided [RCV003419730] Chr17:41097890..41097891 [GRCh38]
Chr17:39254142..39254143 [GRCh37]
Chr17:17q21.2		 likely benign
NM_031960.3(KRTAP4-8):c.115T>A (p.Cys39Ser) single nucleotide variant not specified [RCV004406904] Chr17:41097970 [GRCh38]
Chr17:39254222 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.196C>T (p.Arg66Cys) single nucleotide variant not specified [RCV004406905] Chr17:41097889 [GRCh38]
Chr17:39254141 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.224G>T (p.Cys75Phe) single nucleotide variant not specified [RCV004406906] Chr17:41097861 [GRCh38]
Chr17:39254113 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.274C>A (p.Pro92Thr) single nucleotide variant not specified [RCV004406907] Chr17:41097811 [GRCh38]
Chr17:39254063 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.386G>T (p.Cys129Phe) single nucleotide variant not specified [RCV004406908] Chr17:41097699 [GRCh38]
Chr17:39253951 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.436C>T (p.Arg146Cys) single nucleotide variant not specified [RCV004406909] Chr17:41097649 [GRCh38]
Chr17:39253901 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031960.3(KRTAP4-8):c.467G>A (p.Gly156Asp) single nucleotide variant not specified [RCV004406910] Chr17:41097618 [GRCh38]
Chr17:39253870 [GRCh37]
Chr17:17q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:509
Count of miRNA genes:213
Interacting mature miRNAs:215
Transcripts:ENST00000333822
Prediction methods:Microtar, 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.

Markers in Region
UniSTS:482143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,273,949 - 39,274,587UniSTSGRCh37
GRCh371739,253,748 - 39,254,356UniSTSGRCh37
Celera1735,915,635 - 35,916,274UniSTS
Celera1735,935,939 - 35,936,577UniSTS
HuRef1735,048,115 - 35,048,829UniSTS


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
195 290 678 328 1085 174 252 1 76 154 38 887 837 832 13 364 108 254 179 40

Sequence


Ensembl Acc Id: ENST00000318329   ⟹   ENSP00000325023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,097,527 - 41,098,084 (-)Ensembl
Ensembl Acc Id: ENST00000333822   ⟹   ENSP00000328444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,096,981 - 41,098,142 (-)Ensembl
RefSeq Acc Id: NM_001322457   ⟹   NP_001309386
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01741,961,756 - 41,962,929 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031960   ⟹   NP_114166
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,096,981 - 41,098,142 (-)NCBI
GRCh371739,253,233 - 39,254,375 (-)RGD
Celera1735,915,120 - 35,916,293 (-)RGD
HuRef1735,047,600 - 35,048,848 (-)NCBI
CHM1_11739,488,595 - 39,489,737 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001309386 (Get FASTA)   NCBI Sequence Viewer  
  NP_114166 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAC27579 (Get FASTA)   NCBI Sequence Viewer  
  EAW60705 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328444
  ENSP00000328444.4
  ENSP00000461030.2
  ENSP00000484022.1
  ENSP00000517793.1
GenBank Protein Q9BYQ9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_114166   ⟸   NM_031960
- Peptide Label: isoform 1
- UniProtKB: Q9BYQ9 (UniProtKB/Swiss-Prot),   A8MSH3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000328444   ⟸   ENST00000333822
Ensembl Acc Id: ENSP00000325023   ⟸   ENST00000318329
RefSeq Acc Id: NP_001309386   ⟸   NM_001322457
- Peptide Label: isoform 2
- UniProtKB: A0A0G2JLE6 (UniProtKB/TrEMBL)
- Sequence:

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYQ9-F1-model_v2 AlphaFold Q9BYQ9 1-185 view protein structure
AF-A0A0G2JLE6-F1-model_v2 AlphaFold A0A0G2JLE6 1-195 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17230 AgrOrtholog
COSMIC KRTAP4-8 COSMIC
Ensembl Genes ENSG00000204880 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000261968 UniProtKB/TrEMBL
  ENSG00000292042 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333822 ENTREZGENE
  ENST00000333822.5 UniProtKB/Swiss-Prot
  ENST00000574631.2 UniProtKB/TrEMBL
  ENST00000612944.1 UniProtKB/TrEMBL
  ENST00000709606.1 UniProtKB/Swiss-Prot
GTEx ENSG00000204880 GTEx
  ENSG00000261968 GTEx
  ENSG00000292042 GTEx
HGNC ID HGNC:17230 ENTREZGENE
Human Proteome Map KRTAP4-8 Human Proteome Map
InterPro KAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:728224 UniProtKB/Swiss-Prot
NCBI Gene KRTAP4-8 ENTREZGENE
PANTHER HCG2042992-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23262 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Keratin_B2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38442 PharmGKB
UniProt A0A0G2JLE6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JPP1_HUMAN UniProtKB/TrEMBL
  A8MSH3 ENTREZGENE
  KRA48_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8MSH3 UniProtKB/Swiss-Prot