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Search results 1 to 99 out of 99 for Ammecr1

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Hits by Strain

Type Details Score
Protein Domain
IPR023473 | AMMECR1
Type: Family
Description: Nuclear protein AMMECR1, presently a protein of unknown function, is encoded by one of the genes affected by an X-linked deletion that causes the association of Alport syndrome, midface hypoplasia, intellectual disability and elliptocytosis in humans []. Homologues appear in species ranging from bacteria and archaea to eukaryotes, including Protein PH0010 from Pyrococcus horikoshii []. The high level of conservation of the AMMECR1 domain points to a basic cellular function, potentially in either the transcription, replication, repair or translation machinery [, ].
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Gene
9949 | AMMECR1
Type: gene
Organism: human
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Gene
100144747 | ammecr1
Type: gene
Organism: frog, western clawed
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Gene
492063 | AMMECR1
Type: gene
Organism: dog, domestic
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Gene
501539 | Ammecr1
Type: gene
Organism: rat
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Gene
473731 | AMMECR1
Type: gene
Organism: chimpanzee
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Gene
615842 | AMMECR1
Type: gene
Organism: cattle
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Gene
422343 | AMMECR1
Type: gene
Organism: chicken
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Gene
393553 | ammecr1
Type: gene
Organism: zebrafish
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Gene
705858 | AMMECR1
Type: gene
Organism: macaque, rhesus
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Protein Coding Gene
MGI:1860206 | Ammecr1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
10828604 | J:62787
First Author: Vitelli F
Year: 2000
Journal: Cytogenet Cell Genet
Title: Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.
Volume: 88
Issue: 3-4
Pages: 259-63
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Protein
Q3V0N3
Organism: Mus musculus/domesticus
Length: 384  
Fragment?: false
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Protein
Q3UAR8
Organism: Mus musculus/domesticus
Length: 199  
Fragment?: false
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Gene
83607 | AMMECR1L
Type: gene
Organism: human
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Publication
10049589 | -
First Author: Vitelli F
Year: 1999
Journal: Genomics
Title: Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).
Volume: 55
Issue: 3
Pages: 335-40
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Gene
100420921 | AMMECR1LP1
Type: gene
Organism: human
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Gene
100874352 | AMMECR1-IT1
Type: gene
Organism: human
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Protein
Q8JZZ6
Organism: Mus musculus/domesticus
Length: 310  
Fragment?: false
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Protein
Q9JHT5
Organism: Mus musculus/domesticus
Length: 344  
Fragment?: false
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Protein
A0A3Q4EHL9
Organism: Mus musculus/domesticus
Length: 300  
Fragment?: false
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Publication
15558565 | -
First Author: Tajika Y
Year: 2005
Journal: Proteins
Title: Crystal structure of PH0010 from Pyrococcus horikoshii, which is highly homologous to human AMMECR 1C-terminal region.
Volume: 58
Issue: 2
Pages: 501-3
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Publication
27811305 | -
First Author: Andreoletti G
Year: 2017
Journal: J Med Genet
Title: AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
Volume: 54
Issue: 4
Pages: 269-277
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Gene
307526 | Ammecr1l
Type: gene
Organism: rat
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Gene
459598 | AMMECR1L
Type: gene
Organism: chimpanzee
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Gene
483862 | AMMECR1L
Type: gene
Organism: dog, domestic
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Gene
539958 | AMMECR1L
Type: gene
Organism: cattle
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Gene
424755 | AMMECR1L
Type: gene
Organism: chicken
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Gene
700069 | AMMECR1L
Type: gene
Organism: macaque, rhesus
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Gene
116406432 | ammecr1l
Type: gene
Organism: frog, western clawed
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Protein Coding Gene
MGP_CAROLIEiJ_G0033467 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0036152 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0036129 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0036055 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0036120 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0035828 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1860206 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0036643 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0035119 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0035805 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0035963 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0035897 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0036054 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0035933 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0036680 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0034813 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0035254 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0032007 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0034638 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
     
Probe: MGI:3802528
Assay Type: Northern blot
Annotation Date: 2008-08-15
Strength: Absent
Sex: Pooled
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3802529
Age: postnatal month 9-10
Specimen Label: liver
Detected: false
Specimen Num: 1
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GXD Expression
GXD Expression
     
Probe: MGI:3802528
Assay Type: Northern blot
Annotation Date: 2008-08-15
Strength: Absent
Sex: Pooled
Emaps: EMAPS:1876828
Stage: TS28
Assay Id: MGI:3802529
Age: postnatal week 8-12
Specimen Label: thymus
Detected: false
Specimen Num: 2
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GXD Expression
GXD Expression
     
Probe: MGI:3802528
Assay Type: Northern blot
Annotation Date: 2008-08-15
Strength: Absent
Sex: Pooled
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3802529
Age: postnatal month 9-10
Specimen Label: spleen
Detected: false
Specimen Num: 3
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GXD Expression
GXD Expression
     
Probe: MGI:3802528
Assay Type: Northern blot
Annotation Date: 2008-08-15
Strength: Absent
Sex: Pooled
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3802529
Age: postnatal month 9-10
Specimen Label: kidney
Detected: false
Specimen Num: 4
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GXD Expression
GXD Expression
     
Probe: MGI:3802528
Assay Type: Northern blot
Annotation Date: 2008-08-15
Strength: Absent
Sex: Pooled
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3802529
Age: postnatal month 9-10
Specimen Label: heart
Detected: false
Specimen Num: 5
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GXD Expression
GXD Expression
     
Probe: MGI:3802528
Assay Type: Northern blot
Annotation Date: 2008-08-15
Strength: Absent
Sex: Pooled
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3802529
Age: postnatal month 9-10
Specimen Label: brain
Detected: false
Specimen Num: 6
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Publication
20548051 | J:163340
First Author: Cox BJ
Year: 2010
Journal: Genome Res
Title: Phenotypic annotation of the mouse X chromosome.
Volume: 20
Issue: 8
Pages: 1154-64
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Publication
- | J:160967
     
First Author: Cox BJ
Year: 2010
Journal: MGI Direct Data Submission
Title: Phenotypic annotation of the mouse X chromosome
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:165964
     
First Author: Mammalian Functional Genomics Centre
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the NorCOMM project by the Mammalian Functional Genomics Centre (Mfgc), University of Manitoba
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Publication
20059953 | J:156017
First Author: Yokoyama S
Year: 2009
Journal: Dev Cell
Title: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Volume: 17
Issue: 6
Pages: 836-48
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
- | J:73796
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Gene
100037162 | ammecr1l.S
Type: gene
Organism: frog, African clawed
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Gene
444134 | ammecr1l.L
Type: gene
Organism: frog, African clawed
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Protein Domain
IPR002733 | AMMECR1_domain
Type: Domain
Description: Nuclear protein AMMECR1, presently a protein of unknown function, is encoded by one of the genes affected by an X-linked deletion that causes the association of Alport syndrome, midface hypoplasia, intellectual disability and elliptocytosis in humans []. This entry represents the C-terminal region of AMMECR1 (approximately from residue 122 to 333), which is well conserved. Homologues appear in species ranging from bacteria and archaea to eukaryotes, including Protein PH0010 from Pyrococcus horikoshii []. The high level of conservation of the AMMECR1 domain points to a basic cellular function, potentially in either the transcription, replication, repair or translation machinery [, ]. The AMMECR1 domain, which contains a 6-amino-acid motif (LRGCIG) that might be functionally important since it is strikingly conserved throughout evolution []. The AMMECR1 domain consists of two distinct subdomains of different sizes. The large subdomain, which contains both the N- and C-terminal regions, consists of five α-helices and five β-strands. These five β-strands form an antiparallel β-sheet. The small subdomain consists of four α-helices and three β-strands, and these β-strands also form an antiparallel β-sheet. The conserved 'LRGCIG' motif is located at β(2) and its N-terminal loop, and most of the side chains of these residues point toward the interface of the two subdomains. The two subdomains are connected by only two loops, and the interaction between the two subdomains is not strong. Thus, these subdomains may move dynamically when the substrate enters the cleft. The size of the cleft suggests that the substrate is large, e.g., the substrate may be a nucleic acid or protein. However, the inner side of the cleft is not filled with positively charged residues, and therefore it is unlikely that negatively charged nucleic acids such as DNA or RNA interact at this site [].
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Protein
Q8K2F2
Organism: Mus musculus/domesticus
Length: 64  
Fragment?: false
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Protein Domain
IPR036071 | AMMECR1_dom_sf
Type: Homologous_superfamily
Description: Nuclear protein AMMECR1, presently a protein of unknown function, is encoded by one of the genes affected by an X-linked deletion that causes the association of Alport syndrome, midface hypoplasia, intellectual disability and elliptocytosis in humans []. This entry represents the C-terminal region of AMMECR1 (approximately from residue 122 to 333), which is well conserved. Homologues appear in species ranging from bacteria and archaea to eukaryotes, including Protein PH0010 from Pyrococcus horikoshii []. The high level of conservation of the AMMECR1 domain points to a basic cellular function, potentially in either the transcription, replication, repair or translation machinery [, ]. The AMMECR1 domain, which contains a 6-amino-acid motif (LRGCIG) that might be functionally important since it is strikingly conserved throughout evolution []. The AMMECR1 domain consists of two distinct subdomains of different sizes. The large subdomain, which contains both the N- and C-terminal regions, consists of five α-helices and five β-strands. These five β-strands form an antiparallel β-sheet. The small subdomain consists of four α-helices and three β-strands, and these β-strands also form an antiparallel β-sheet. The conserved 'LRGCIG' motif is located at β(2) and its N-terminal loop, and most of the side chains of these residues point toward the interface of the two subdomains. The two subdomains are connected by only two loops, and the interaction between the two subdomains is not strong. Thus, these subdomains may move dynamically when the substrate enters the cleft. The size of the cleft suggests that the substrate is large, e.g., the substrate may be a nucleic acid or protein. However, the inner side of the cleft is not filled with positively charged residues, and therefore it is unlikely that negatively charged nucleic acids such as DNA or RNA interact at this site [].
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DO Term
DOID:0111859 | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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DO Term
DOID:0111860 | AMME complex
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Protein Domain
IPR027485 | AMMECR1_N
Type: Homologous_superfamily
Description: This entry represents an N-terminal subdomain of the AMMECR1 domain (). It consists of a 2-layer sandwich structure. Defects in Nuclear protein AMMECR1 (AMMECR1) are involved association of Alport syndrome, midface hypoplasia, intellectual disability and elliptocytosis in humans [].
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Publication
17715145 | -
First Author: Balaji S
Year: 2007
Journal: Nucleic Acids Res
Title: The RAGNYA fold: a novel fold with multiple topological variants found in functionally diverse nucleic acid, nucleotide and peptide-binding proteins.
Volume: 35
Issue: 17
Pages: 5658-71
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Protein Domain
IPR027623 | AmmeMemoSam_A
Type: Family
Description: Members of this protein family belong to the same domain family as AMMECR1 , a mammalian protein whose deficit is involved in the association of Alport syndrome, midface hypoplasia, intellectual disability and elliptocytosis in humans []. Members of the present family occur as part of a three gene system with a homologue of the mammalian protein Memo (Mediator of ErbB2-driven cell MOtility), and an uncharacterised radical SAM enzyme [].
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Publication
11042159 | J:68323
First Author: Carninci P
Year: 2000
Journal: Genome Res
Title: Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Volume: 10
Issue: 10
Pages: 1617-30
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Publication
10349636 | J:80645
 
First Author: Carninci P
Year: 1999
Journal: Methods Enzymol
Title: High-efficiency full-length cDNA cloning.
Volume: 303
Pages: 19-44
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Publication
11076861 | J:68324
First Author: Shibata K
Year: 2000
Journal: Genome Res
Title: RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Volume: 10
Issue: 11
Pages: 1757-71
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Publication
16141073 | -
First Author: Katayama S
Year: 2005
Journal: Science
Title: Antisense transcription in the mammalian transcriptome.
Volume: 309
Issue: 5740
Pages: 1564-6
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Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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