Aliases for AFG1L Gene
Aliases for AFG1L Gene
External Ids for AFG1L Gene
- HGNC: 16411
- Entrez Gene: 246269
- Ensembl: ENSG00000135537
- OMIM: 617469
- UniProtKB: Q8WV93
Previous HGNC Symbols for AFG1L Gene
- LACE1
Summaries for AFG1L Gene
-
This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
GeneCards Summary for AFG1L Gene
AFG1L (AFG1 Like ATPase) is a Protein Coding gene.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFG1L Gene
Genomics for AFG1L Gene
Regulatory Elements for AFG1L Gene
Enhancers for AFG1L Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH06G108293 | 1.2 | ENCODE | 6 | +0.2 | 224 | 2.4 | CREB3L1 DMAP1 YY1 ZNF143 SP3 TBX21 ZNF610 GLIS1 NBN NR2C1 | SNX3 AFG1L RPL36AP24 |
| GH06G108941 | 1.4 | Ensembl ENCODE dbSUPER | 5.1 | +650.7 | 650692 | 7.3 | PKNOX1 ATF1 CBX3 NFIB BMI1 RAD21 CHAMP1 CBX5 SCRT2 FOS | ARMC2-AS1 RNU6-653P ARMC2 AFG1L PIR34191 |
| GH06G108329 | 1 | ENCODE dbSUPER | 5.4 | +36.5 | 36480 | 3.2 | CEBPG ZBTB40 RAD21 ZNF121 ZFHX2 FOS ZNF600 MAFK EGR2 MTA2 | AFG1L ENSG00000238055 LOC100506224 |
| GH06G108301 | 1 | ENCODE dbSUPER | 5.2 | +7.4 | 7443 | 2.3 | ZNF263 CTCF BHLHE40 MAX RAD21 YY1 FOSL1 JUND ATF3 HNF4G | SNX3 OSTM1 NR2E1 SEC63 AFG1L RPL36AP24 |
| GH06G108275 | 0.7 | ENCODE | 6.3 | -18.7 | -18655 | 1.1 | MTA2 NR2F1 BHLHE40 HLF JUNB YY1 FOSL1 ARID3A RAD51 TARDBP | AFG1L ENSG00000230248 GC06P108293 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around AFG1L on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for AFG1L Gene
- Chromosome:
- 6
- Start:
- 108,294,894 bp from pter
- End:
- 108,526,796 bp from pter
- Size:
- 231,903 bases
- Orientation:
- Plus strand
Genomic View for AFG1L Gene
Genes around AFG1L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q21 by Ensembl
- 6q21 by Entrez Gene
- 6q21 by HGNC
AFG1L 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 AFG1L Gene
Proteins for AFG1L Gene
-
Protein details for AFG1L Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WV93-LACE1_HUMAN
- Recommended name:
- Lactation elevated protein 1
- Protein Accession:
- Q8WV93
- Q8N6A3
Protein attributes for AFG1L Gene
- Size:
- 481 amino acids
- Molecular mass:
- 54845 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for AFG1L Gene
Other Protein References for AFG1L Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AFG1L
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-
Abcam antibodies for AFG1L
- Invitrogen Antibodies for AFG1L
- antibodies-online Antibodies for AFG1L: See all 40
- GeneTex Itgax antibody for AFG1L
Protein Products
-
OriGene Purified Proteins for AFG1L
- Search Origene for MassSpec and Protein Over-expression Lysates for AFG1L
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-
Abcam proteins for AFG1L
Assay Products
- antibodies-online Kits for AFG1L: See all 3
No data available for DME Specific Peptides for AFG1L Gene
Domains & Families for AFG1L Gene
Protein Domains for AFG1L Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AFG1L Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8WV93- Family:
-
- Belongs to the AFG1 ATPase family.
No data available for Gene Families for AFG1L Gene
Function for AFG1L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for AFG1L Gene
- GenomeRNAi human phenotypes for AFG1L:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for AFG1L gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for AFG1L
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miRNA for AFG1L Gene
- miRTarBase miRNAs that target AFG1L
-
- hsa-let-7b-5p (MIRT052121)
- hsa-mir-1228-5p (MIRT560479)
- hsa-mir-6770-3p (MIRT560480)
- hsa-mir-4730 (MIRT560481)
- hsa-mir-6787-5p (MIRT560482)
- hsa-mir-663a (MIRT560483)
- hsa-mir-1908-5p (MIRT560484)
- hsa-mir-4467 (MIRT560485)
- hsa-mir-6809-5p (MIRT560486)
- hsa-mir-571 (MIRT560487)
- hsa-mir-4715-5p (MIRT560488)
- hsa-mir-3141 (MIRT560489)
miRNA Products
- Search ViGene Biosciences for AFG1L
Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for AFG1L
-
ViGene Biosciences adenoviral particle packaged cDNA for AFG1L gene
-
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-
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Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AFG1L Gene
Localization for AFG1L Gene
| Compartment | Confidence |
|---|---|
| mitochondrion | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for AFG1L Gene
Pathways & Interactions for AFG1L Gene
No Data Available
Interacting Proteins for AFG1L Gene
Selected Interacting proteins:
ENSP00000357973
Q8WV93-LACE1_HUMAN
for AFG1L Gene via
STRING
UniProtKB
IID
No data available for Pathways by source and SIGNOR curated interactions for AFG1L Gene
Transcripts for AFG1L Gene
mRNA/cDNA for AFG1L Gene
- (10) REFSEQ mRNAs :
- (30) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for AFG1L
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for AFG1L
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-
ViGene Biosciences ready-to-package AAV shRNAs for AFG1L gene
Clone Products
-
OriGene ORF clones in human for AFG1L
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- VectorBuilder custom plasmid, inducible vectors for AFG1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFG1L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for AFG1L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
NURSA nuclear receptor signaling pathways regulating expression of AFG1L Gene:
AFG1LEvidence on tissue expression from TISSUES for AFG1L Gene
- Eye(4.1)
Primer Products
-
OriGene qPCR primer pairs for AFG1L
-
OriGene qPCR primer pairs and template standards for AFG1L
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFG1L Gene
Orthologs for AFG1L Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LACE1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | LACE1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | LACE1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Lace1 34 35 |
|
||
| Afg1l 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Lace1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LACE1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LACE1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LACE1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | LACE1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lace1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lace1a 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009867 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8520 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C30F12.2 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AFG1 34 35 37 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A01947g 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AAR132C 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G30490 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0265500 34 |
|
||
| Os.14911 34 |
|
||||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC115.02c 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04481 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6918 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2052 34 |
|
- Species where no ortholog for AFG1L was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for AFG1L Gene
No data available for Paralogs for AFG1L Gene
Variants for AFG1L Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000002384 | -- | 108,405,913(+) | TCACT(A/T)AGCAC | intron-variant | |
| rs1000010548 | -- | 108,442,286(+) | ACACA(C/G)AACAT | intron-variant | |
| rs1000013425 | -- | 108,347,233(+) | TACAG(C/G)TGTAG | intron-variant | |
| rs1000015980 | -- | 108,397,739(+) | CATTT(C/T)ACTTA | intron-variant | |
| rs1000025317 | -- | 108,300,057(+) | ATAAC(-/AA)TATTA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3362n106 | CNV | deletion | 24896259 |
| esv2732558 | CNV | deletion | 23290073 |
| esv2732559 | CNV | deletion | 23290073 |
| esv3435603 | CNV | insertion | 20981092 |
| esv3540290 | CNV | deletion | 23714750 |
| esv3610317 | CNV | gain | 21293372 |
| esv3610318 | CNV | loss | 21293372 |
| esv3610321 | CNV | loss | 21293372 |
| esv3610322 | CNV | loss | 21293372 |
| esv3610323 | CNV | gain | 21293372 |
| nsv1074005 | CNV | deletion | 25765185 |
| nsv1076603 | CNV | duplication | 25765185 |
| nsv1128269 | CNV | deletion | 24896259 |
| nsv1137136 | CNV | deletion | 24896259 |
| nsv604466 | CNV | loss | 21841781 |
| nsv604475 | CNV | loss | 21841781 |
| nsv830766 | CNV | loss | 17160897 |
| nsv830767 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.32;
53.39% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for AFG1L Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AFG1L
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFG1L Gene
Disorders for AFG1L Gene
Relevant External Links for AFG1L
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- AFG1L
No disorders were found for AFG1L Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AFG1L Gene
Publications for AFG1L Gene
- Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci. (PMID: 12079282) Abrahams B.S. … Venkatesh B. (Genomics 2002) 2 3 4 64
- Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
- The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits. (PMID: 26759378) Cesnekova J. … Stiburek L. (Biochem. J. 2016) 3 64
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
- Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3 64
Products for AFG1L Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for AFG1L
- VectorBuilder custom plasmid, inducible vectors for AFG1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFG1L
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for AFG1L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
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- (122) diseasecard
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer