Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive osteopetrosis 6 | | ISO | PLEKHM1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive osteopetrosis 6 | | ISO | PLEKHM1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:8889548 | PMID:10349636 | PMID:10725249 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12520002 | PMID:12904583 | PMID:14610273 | PMID:15747579 | PMID:15782199 | PMID:16141072 |
PMID:16141073 | PMID:17967808 | PMID:18799693 | PMID:22073305 | PMID:25498145 | PMID:25905573 | PMID:25992615 | PMID:26273529 | PMID:27626380 | PMID:27777970 | PMID:32325033 |
Plekhm1 (Mus musculus - house mouse) |
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PLEKHM1 (Homo sapiens - human) |
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Plekhm1 (Rattus norvegicus - Norway rat) |
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Plekhm1 (Chinchilla lanigera - long-tailed chinchilla) |
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PLEKHM1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PLEKHM1 (Canis lupus familiaris - dog) |
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Plekhm1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PLEKHM1 (Sus scrofa - pig) |
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PLEKHM1 (Chlorocebus sabaeus - green monkey) |
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Plekhm1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Plekhm1
1772 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D11Mit360 |
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UniSTS:236754 |
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RefSeq Transcripts | NM_183034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AK048562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK154703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK155357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK157752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK181665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK183705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK189128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK190944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK193700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK194666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK196505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK196588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK197598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK200989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK201014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK201821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK210293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK212548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK214417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK216022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK216813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK217464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK218682 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL772325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL929552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC038943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP767414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY203268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000041272 ⟹ ENSMUSP00000047327 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000184350 ⟹ ENSMUSP00000138878 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_183034 ⟹ NP_898855 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_898855 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH38943 | (Get FASTA) | NCBI Sequence Viewer |
AAH53079 | (Get FASTA) | NCBI Sequence Viewer | |
BAE32773 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000047327 | ||
ENSMUSP00000047327.9 | |||
ENSMUSP00000138878.2 | |||
GenBank Protein | Q7TSI1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_898855 ⟸ NM_183034 |
- UniProtKB: | Q3U3L2 (UniProtKB/Swiss-Prot), Q8CHU5 (UniProtKB/Swiss-Prot), Q7TSI1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000138878 ⟸ ENSMUST00000184350 |
RefSeq Acc Id: | ENSMUSP00000047327 ⟸ ENSMUST00000041272 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7TSI1-F1-model_v2 | AlphaFold | Q7TSI1 | 1-1074 | view protein structure |
RGD ID: | 6846886 | ||||||||
Promoter ID: | MM_ACW:9051 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour | ||||||||
Transcripts: | PLEKHM1.CSEP07, PLEKHM1.DSEP07 | ||||||||
Position: |
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RGD ID: | 6821572 | ||||||||
Promoter ID: | MM_KWN:10075 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | OTTMUST00000005762 | ||||||||
Position: |
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RGD ID: | 8676976 | ||||||||
Promoter ID: | EPDNEW_M16518 | ||||||||
Type: | initiation region | ||||||||
Name: | Plekhm1_2 | ||||||||
Description: | Mus musculus pleckstrin homology domain containing, family Mmember 1 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M16519 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 8676978 | ||||||||
Promoter ID: | EPDNEW_M16519 | ||||||||
Type: | initiation region | ||||||||
Name: | Plekhm1_1 | ||||||||
Description: | Mus musculus pleckstrin homology domain containing, family Mmember 1 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M16518 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:2443207 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000034247 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000041272 | ENTREZGENE |
ENSMUST00000041272.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000184350.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.58.900 | UniProtKB/Swiss-Prot |
2.30.29.30 | UniProtKB/Swiss-Prot | |
InterPro | PE/DAG-bd | UniProtKB/Swiss-Prot |
PH-like_dom_sf | UniProtKB/Swiss-Prot | |
PH_domain | UniProtKB/Swiss-Prot | |
PLEKHM1_PH | UniProtKB/Swiss-Prot | |
Run_dom | UniProtKB/Swiss-Prot | |
Run_dom_sf | UniProtKB/Swiss-Prot | |
RUN_PLEKHM1 | UniProtKB/Swiss-Prot | |
Zf-RING_9 | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:353047 | UniProtKB/Swiss-Prot |
MGD | MGI:2443207 | ENTREZGENE |
NCBI Gene | 353047 | ENTREZGENE |
PANTHER | PLECKSTRIN HOMOLOGY DOMAIN CONTAINING PROTEIN | UniProtKB/Swiss-Prot |
PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING FAMILY M MEMBER 1 | UniProtKB/Swiss-Prot | |
Pfam | RUN | UniProtKB/Swiss-Prot |
zf-RING_9 | UniProtKB/Swiss-Prot | |
PhenoGen | Plekhm1 | PhenoGen |
PROSITE | PH_DOMAIN | UniProtKB/Swiss-Prot |
RUN | UniProtKB/Swiss-Prot | |
ZF_DAG_PE_2 | UniProtKB/Swiss-Prot | |
SMART | DUF4206 | UniProtKB/Swiss-Prot |
RUN | UniProtKB/Swiss-Prot | |
SM00109 | UniProtKB/Swiss-Prot | |
SM00233 | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot |
SSF140741 | UniProtKB/Swiss-Prot | |
UniProt | PKHM1_MOUSE | UniProtKB/Swiss-Prot |
Q3U3L2 | ENTREZGENE | |
Q7TSI1 | ENTREZGENE | |
Q8CHU5 | ENTREZGENE | |
V9GWX7_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | Q3U3L2 | UniProtKB/Swiss-Prot |
Q8CHU5 | UniProtKB/Swiss-Prot |