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Aliases for AFG3L1P Gene
Aliases for AFG3L1P Gene
- AFG3 Like Matrix AAA Peptidase Subunit 1, Pseudogene 2 3 5
- AFG3 Like AAA ATPase 1, Pseudogene 2 3
- AFG3 ATPase Family Gene 3-Like 1 (S. Cerevisiae), Pseudogene 2
- AFG3 ATPase Family Member 3-Like 1, Pseudogene 3
- AFG3 ATPase Family Gene 3-Like 1, Pseudogene 3
- AFG3 (ATPase Family Gene 3, Yeast)-Like 1 3
- AFG3L1P 5
- AFG3L1 3
- AFG3 3
External Ids for AFG3L1P Gene
- HGNC: 314
- Entrez Gene: 172
- Ensembl: ENSG00000223959
- OMIM: 603020
Previous HGNC Symbols for AFG3L1P Gene
- AFG3
- AFG3L1
Previous GeneCards Identifiers for AFG3L1P Gene
- GC16P090039
- GC16P090041
Summaries for AFG3L1P Gene
GeneCards Summary for AFG3L1P Gene
AFG3L1P (AFG3 Like Matrix AAA Peptidase Subunit 1, Pseudogene) is a Pseudogene. Diseases associated with AFG3L1P include Hereditary Spastic Paraplegia.
Additional gene information for AFG3L1P Gene
- Monarch Initiative
- Search for AFG3L1P at DataMed
- Search for AFG3L1P at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AFG3L1P Gene
Genomics for AFG3L1P Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AFG3L1P Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AFG3L1P on the GeneHancer Hub at the UCSC Golden Path
Genomic Locations for AFG3L1P Gene
Genomic Locations for AFG3L1P Gene
- chr16:89,972,580-90,002,161
- (GRCh38/hg38)
- Size:
- 29,582 bases
- Orientation:
- Plus strand
- chr16:90,038,988-90,068,569
- (GRCh37/hg19)
- Size:
- 29,582 bases
- Orientation:
- Plus strand
Genomic View for AFG3L1P Gene
Genes around AFG3L1P on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.3 by HGNC
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
AFG3L1P Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AFG3L1P Gene
Proteins for AFG3L1P Gene
Post-translational modifications for AFG3L1P Gene
No Post-translational modifications
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AFG3L1P
- Origene Custom Protein Services for AFG3L1P
No data available for DME Specific Peptides for AFG3L1P Gene
Domains & Families for AFG3L1P Gene
Gene Families for AFG3L1P Gene
- HGNC:
No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AFG3L1P Gene
Function for AFG3L1P Gene
Phenotypes From GWAS Catalog for AFG3L1P Gene
Phenotypes for AFG3L1P Gene
- GenomeRNAi human phenotypes for AFG3L1P:
-
- no effect
- shRNA abundance <= 50%
- Moderately decreased NFAT1-GFP nuclear translocation
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased HIV-LTR-beta-galactosidase protein expression
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased caspase 3/7 activity
Animal Model Products
-
Taconic Biosciences Mouse Models for AFG3L1P
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AFG3L1P - Select products 50% OFF >
- * AFG3L1P CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AFG3L1P
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AFG3L1P
miRNA for AFG3L1P Gene
- miRTarBase miRNAs that target AFG3L1P
-
- mmu-miR-129-5p (MIRT588092)
- mmu-miR-335-3p (MIRT588093)
- mmu-miR-1896 (MIRT588094)
- mmu-miR-129-2-3p (MIRT588095)
- mmu-miR-129-1-3p (MIRT588096)
- mmu-miR-3085-3p (MIRT588097)
- mmu-miR-3064-5p (MIRT588098)
- mmu-miR-874-3p (MIRT588099)
- mmu-miR-345-3p (MIRT588100)
- mmu-miR-3087-3p (MIRT588101)
- mmu-miR-3470b (MIRT588102)
- mmu-miR-5125 (MIRT604403)
- mmu-miR-3110-5p (MIRT604404)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AFG3L1P
- Browse OriGene Inhibitory RNA Products For AFG3L1P
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFG3L1P
Clone Products
- Applied Biological Materials (abm): Clones for AFG3L1P - Select products 50% OFF >
- * AFG3L1P as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AFG3L1P
- Sino Biological Human cDNA Clone for AFG3L1P
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AFG3L1P
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AFG3L1P Gene
Localization for AFG3L1P Gene
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for AFG3L1P Gene
Transcripts for AFG3L1P Gene
mRNA/cDNA for AFG3L1P Gene
- 2 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000431757 569 nts (view in UCSC)
- ENST00000429663 458 nts (view in UCSC)
- ENST00000418696 2965 nts (view in UCSC)
- ENST00000450026 494 nts (view in UCSC)
- ENST00000457926 2919 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AFG3L1P - Select products 50% OFF >
- * AFG3L1P CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AFG3L1P
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AFG3L1P
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AFG3L1P
- Browse OriGene Inhibitory RNA Products For AFG3L1P
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFG3L1P
Clone Products
- Applied Biological Materials (abm): Clones for AFG3L1P - Select products 50% OFF >
- * AFG3L1P as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AFG3L1P
- Sino Biological Human cDNA Clone for AFG3L1P
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AFG3L1P
Relevant External Links for AFG3L1P Gene
- GeneLoc Exon Structure for
- AFG3L1P
Expression for AFG3L1P Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AFG3L1P
SOURCE GeneReport for Unigene cluster for AFG3L1P Gene:
Hs.534773Primer Products
-
OriGene qPCR primer pairs for AFG3L1P
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFG3L1P Gene
Orthologs for AFG3L1P Gene
No data available for Orthologs for AFG3L1P Gene
Paralogs for AFG3L1P Gene
No data available for Paralogs for AFG3L1P Gene
Variants for AFG3L1P Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2136699 | CNV | deletion | 18987734 |
| esv2664835 | CNV | deletion | 23128226 |
| esv2762221 | CNV | gain+loss | 21179565 |
| esv3639603 | CNV | gain | 21293372 |
| esv3639604 | CNV | loss | 21293372 |
| esv3639605 | CNV | loss | 21293372 |
| esv3689 | CNV | loss | 18987735 |
| esv3892941 | CNV | gain | 25118596 |
| nsv103059 | CNV | insertion | 16902084 |
| nsv103116 | CNV | deletion | 16902084 |
| nsv1066499 | CNV | loss | 25217958 |
| nsv428331 | CNV | gain+loss | 18775914 |
| nsv457626 | CNV | loss | 19166990 |
| nsv471119 | CNV | loss | 18288195 |
| nsv471120 | CNV | gain | 18288195 |
| nsv477114 | CNV | novel sequence insertion | 20440878 |
| nsv479100 | CNV | novel sequence insertion | 20440878 |
| nsv482951 | CNV | loss | 15286789 |
| nsv573799 | CNV | gain | 21841781 |
| nsv573810 | CNV | loss | 21841781 |
| nsv573841 | CNV | loss | 21841781 |
| nsv573842 | CNV | loss | 21841781 |
| nsv952080 | CNV | deletion | 24416366 |
Additional Variant Information for AFG3L1P Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AFG3L1P
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) and Variation tolerance for AFG3L1P Gene
Disorders for AFG3L1P Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hereditary spastic paraplegia |
|
|
Search AFG3L1P in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AFG3L1P
No data available for UniProtKB/Swiss-Prot and Genatlas for AFG3L1P Gene
Publications for AFG3L1P Gene
- Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. (PMID: 11549317) Kremmidiotis G … Callen DF (Genomics 2001) 2 3 23
- Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. (PMID: 9545647) Shah ZH … Jacobs HT (Genomics 1998) 2 3 23
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
- Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3
- The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. (PMID: 21555518) Warnatz HJ … Yaspo ML (The Journal of biological chemistry 2011) 3
ExternalLinks
Products for AFG3L1P Gene
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- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AFG3L1P
- Origene Custom Protein Services for AFG3L1P
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AFG3L1P
- Browse OriGene Inhibitory RNA Products For AFG3L1P
- OriGene qPCR primer pairs for AFG3L1P
- OriGene CRISPR knockouts for AFG3L1P
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AFG3L1P
- Sino Biological Human cDNA Clone for AFG3L1P
- Sino Biological Human cDNA Clone for AFG3L1P
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Taconic Biosciences Mouse Models for AFG3L1P
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- VectorBuilder Custom and pre-made DNA vectors for AFG3L1P (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for AFG3L1P (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for AFG3L1P (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for AFG3L1P CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for AFG3L1P
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AFG3L1P
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AFG3L1P
- Search GeneCopoeia for miRNA 3'UTR Target clone products for AFG3L1P
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFG3L1P
Sources for AFG3L1P Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB