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Cellular Component
Molecular Function
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Analyze GeneStrainQTL List |
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | keratinization | | TAS | | 2290271 | | Reactome | Reactome:R-HSA-6805567 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for gene-chemical interactions |
KRTAP8-1 (Homo sapiens - human) |
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Krtap8-1 (Mus musculus - house mouse) |
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Krtap8-1 (Rattus norvegicus - Norway rat) |
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LOC102011504 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100995494 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KRTAP8-1 (Canis lupus familiaris - dog) |
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LOC101961052 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC100626387 (Sus scrofa - pig) |
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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. |
RefSeq Transcripts | NM_175857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB096961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ457064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP000244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC130397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC133033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_175857 ⟹ NP_787053 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
TGTTGCTACCTAAGCCCTCCACTCCCGACACCATGCTCTGCGACAACTTCCCCGGGGCTGTCTThide sequence |
Protein RefSeqs | NP_787053 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAI30398 | (Get FASTA) | NCBI Sequence Viewer |
AAI33034 | (Get FASTA) | NCBI Sequence Viewer | |
BAE46376 | (Get FASTA) | NCBI Sequence Viewer | |
CAD29720 | (Get FASTA) | NCBI Sequence Viewer | |
EAX09896 | (Get FASTA) | NCBI Sequence Viewer | |
Q8IUC2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_787053 ⟸ NM_175857 |
- UniProtKB: | Q8IUC2 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLCDNFPGAVFPGCYWGSYGYPLGYSVGCGYGSTYSPVGYGFGYGYNGCGAFGYRRYSPFALYhide sequence |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|Autism [RCV000050446]|Nonsyndromic microcephaly [RCV000050447]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|See cases [RCV000050445] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 | copy number loss | Intellectual functioning disability [RCV000052799]|See cases [RCV000052799] | Chr21:14000720..30903065 [GRCh38] Chr21:15373041..32275384 [GRCh37] Chr21:14294912..31197255 [NCBI36] Chr21:21q11.2-22.11 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|See cases [RCV000053042] | Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|See cases [RCV000053043] | Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 | copy number gain | Cleft upper lip [RCV000053045]|Abnormality of the heart [RCV000053046]|See cases [RCV000053045] | Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | Abnormal facial shape [RCV000053065]|See cases [RCV000053065] | Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|See cases [RCV000053067] | Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|See cases [RCV000053068] | Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|See cases [RCV000053039] | Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 | copy number gain | Global developmental delay [RCV000053040]|Abnormal facial shape [RCV000053041]|See cases [RCV000053040] | Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000135310] | Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 | copy number gain | See cases [RCV000133676] | Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 | copy number gain | See cases [RCV000134727] | Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 | copy number gain | See cases [RCV000134509] | Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134119] | Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 | copy number gain | See cases [RCV000134836] | Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134842] | Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 | copy number gain | See cases [RCV000135448] | Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137255] | Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137337] | Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 | copy number loss | See cases [RCV000138095] | Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138216] | Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138436] | Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000140103] | Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 | copy number gain | See cases [RCV000141346] | Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000141827] | Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3 |
uncertain significance |
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 | copy number loss | See cases [RCV000141575] | Chr21:29880468..36062331 [GRCh37] Chr21:28802339..34984201 [NCBI36] Chr21:21q21.3-22.12 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 | copy number loss | See cases [RCV000142427] | Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 | copy number loss | See cases [RCV000142217] | Chr21:19423169..31841150 [GRCh38] Chr21:20795486..33213462 [GRCh37] Chr21:19717357..32135333 [NCBI36] Chr21:21q21.1-22.11 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143376] | Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) | copy number gain | See cases [RCV000143160] | Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143120] | Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000148131] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|See cases [RCV000053069] | Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) | copy number loss | Chromosome 21 monosomy [RCV000225665] | Chr21:21754822..32380347 [GRCh38] Chr21:21q21.1-22.11 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 | copy number loss | See cases [RCV000239948] | Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 | copy number gain | See cases [RCV000240397] | Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 | copy number gain | See cases [RCV000446716] | Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 | copy number gain | See cases [RCV000448874] | Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 | copy number gain | See cases [RCV000447884] | Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 | copy number gain | See cases [RCV000448199] | Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 | copy number gain | See cases [RCV000447729] | Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 | copy number gain | See cases [RCV000447749] | Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) | copy number gain | See cases [RCV000511589] | Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q21.3-22.11(chr21:31276879-32826955)x1 | copy number loss | See cases [RCV000512419] | Chr21:31276879..32826955 [GRCh37] Chr21:21q21.3-22.11 |
likely benign |
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 | copy number gain | not provided [RCV000741419] | Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3 | copy number gain | not provided [RCV000741530] | Chr21:30214872..34896962 [GRCh37] Chr21:21q21.3-22.11 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 | copy number gain | not provided [RCV000741413] | Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 | copy number gain | not provided [RCV000741415] | Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 | copy number gain | not provided [RCV000741418] | Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 | copy number gain | not provided [RCV000846937] | Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:18935 | AgrOrtholog |
COSMIC | KRTAP8-1 | COSMIC |
Ensembl Genes | ENSG00000183640 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000332805 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000329621 | ENTREZGENE, UniProtKB/Swiss-Prot |
GTEx | ENSG00000183640 | GTEx |
HGNC ID | HGNC:18935 | ENTREZGENE |
Human Proteome Map | KRTAP8-1 | Human Proteome Map |
InterPro | KRTAP8-1 | UniProtKB/Swiss-Prot |
KRTAP_type6/8/16/19/20/21 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:337879 | UniProtKB/Swiss-Prot |
NCBI Gene | 337879 | ENTREZGENE |
PANTHER | PTHR36131 | UniProtKB/Swiss-Prot |
Pfam | KRTAP | UniProtKB/Swiss-Prot |
PharmGKB | PA134918132 | PharmGKB |
UniGene | Hs.407655 | ENTREZGENE |
UniProt | KRA81_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
UniProt Secondary | Q3LI57 | UniProtKB/Swiss-Prot |
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More on KRTAP8-1 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1354331 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.