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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AFG3L1P Gene

pseudogene GIFtS: 28
GCID: GC16P090039

AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene

(Previous names: AFG3 (ATPase family gene 3, yeast)-like 1, AFG3 ATPase...)
(Previous symbols: AFG3, AFG3L1)

Explore 5 diseases affiliated with
AFG3L1P via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
AFG3 ATPase Family Member 3-Like 1 (S. Cerevisiae), Pseudogene¹ ²		AFG3 ATPase Family Gene 3-Like 1 (S. Cerevisiae)¹
AFG3¹ ² ⁵		AFG3 ATPase Family Gene 3-Like 1 (S. Cerevisiae) Pseudogene¹
AFG3L1¹ ² ⁵		AFG3 ATPase Family Gene 3-Like 1 (S. Cerevisiae), Pseudogene¹
AFG3 (ATPase Family Gene 3, Yeast)-Like 1¹		AFG3 ATPase Family Gene 3-Like 1 (Yeast)¹

External Ids:	HGNC: 314¹	Entrez Gene: 172²	Ensembl: ENSG00000223959⁷	OMIM: 603020⁵

ORGUL members:
	NONCODE:n334677 n405951 n383032 n383033 n405953	see all 6

Export aliases for AFG3L1P gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010542.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for AFG3L1P
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFG3L1P

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.3 Ensembl cytogenetic band: 16q24.3 HGNC cytogenetic band: 16q24.3

AFG3L1P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFG3L1P gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P090039: view genomic region (about GC identifiers)

Start:	90,038,988 bp from pter	End:	90,068,569 bp from pter
Size:	29,582 bases	Orientation:	plus strand

ORGUL member locations:
Legend (see complete legend)

n405952
n405951
n405953
n383032
n383033
n334677

lncRNA
Full Legend

90038987 90053091 90067195 chr16

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB: --

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AFG3L1P

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for AFG3L1P gene (2 alternative transcripts):

NM_001031805.1 NM_001132.2

Unigene Cluster for AFG3L1P:

AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene

Hs.534773 [show with all ESTs]

Unigene Representative Sequence: NR_003226

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000431757 ENST00000429663 ENST00000418696(uc002fpw.1) ENST00000450026

ENST00000457926(uc002fpu.1 uc002fqa.1) ENST00000436447 ENST00000423742

ENST00000437774(uc002fpt.1 uc002fpv.1) ENST00000557444(uc002fpx.1 uc002fqb.1)

ENST00000421164(uc002fps.1 uc002fpy.1 uc002fpz.1) ENST00000423684

ENST00000421780 ENST00000388970 ENST00000458301 ENST00000355531 ENST00000427658(uc002fqc.1)

ENST00000454997(uc002fqd.1)

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Additional cDNA sequence:

AF329691.1 AF329692.1 AF329693.1 AF329694.1 AJ001495.1 AK056488.1 AK090856.1 AK091293.1

AK091727.1 AK126911.1 AK127143.1 AK128352.1 AK128804.1 BC077734.1 NR_003226.1 NR_003227.1

NR_003228.1

24/28 DOTS entries (see all 28):

DT.101982307 DT.120720828 DT.95272640 DT.100024043 DT.100024045 DT.99999442 DT.100675254 DT.310423

DT.40212010 DT.310424 DT.97771816 DT.100755526 DT.120720840 DT.91816887 DT.100024046 DT.97831337

DT.97839887 DT.120720972 DT.120721014 DT.97839889 DT.100755529 DT.111280 DT.120720641 DT.120720881

24/88 AceView cDNA sequences (see all 88):

AK128352 AF329692 AA350737 BM720338 AI204538 AJ001495 BF110425 AF329691

BM803134 CA433594 AI215191 BM986843 AI693214 NM_001132 BC045753 BC021245

AK056488 BG771795 AI859065 AF329693 BU952484 BQ717915 BF984456 AW819683

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AFG3L1P expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGTGAGTGG

About this image
Genevestigator expression for AFG3L1P

SOURCE GeneReport for Unigene cluster: Hs.534773

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for AFG3L1P gene from 1 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Afg3l1⁵	AFG3(ATPase family gene 3)-like 1 (yeast)	--		8 (72.10 cM) 123477903

ENSEMBL Gene Tree for AFG3L1P (if available)
TreeFam Gene Tree for AFG3L1P (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146547231^1,2		--	90036988(+)	`AAGGTC/TGAGAT`	4	--	ut3¹ us2k¹		0	--	--	--	--
rs77395247^1,2	F,	--	90037009(+)	`CACGTG/AGTCCG`	4	--	us2k¹ ut3¹		1		WA	118
rs187056414^1,2		--	90037087(+)	`TGAGAC/TGGAGT`	4	--	ut3¹ us2k¹		0	--	--	--	--
rs4303488^1,2	C,	--	90037246(+)	`TTTTAG/ATAGAG`	4	--	us2k¹ ut3¹		8		NA WA CSA	14
rs146873515^1,2		--	90037290(+)	`CTCCTA/GACCTC`	4	--	us2k¹ ut3¹		0	--	--	--	--
rs191805159^1,2		--	90037417(+)	`TGGCAG/TGACGC`	4	--	us2k¹ ut3¹		0	--	--	--	--
rs184091793^1,2		--	90037554(+)	`GCCAAA/GTCACG`	4	--	ut3¹ us2k¹		0	--	--	--	--
rs114824640^1,2		--	90037575(+)	`GCTTCA/TAGAAC`	4	--	us2k¹ ut3¹		1		WA	118
rs140564976^1,2		--	90037588(+)	`TTCAGA/CGCCTT`	4	--	us2k¹ ut3¹		0	--	--	--	--
rs13336336^1,2	C,F,H,	--	90037596(+)	`cttgcG/Aggttt`	4	--	us2k¹ ut3¹		16		NS NA WA CSA	1938

HapMap Linkage Disequilibrium report for AFG3L1P (90038988 - 90068569 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AFG3L1P: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AFG3L1P for disorders           About GeneDecksing

OMIM gene information: 603020    OMIM disorders: --

5 diseases for AFG3L1P:    About MalaCards

spastic paraplegia hereditary spastic paraplegia paraplegia spasticity

melanoma

Export disorders for AFG3L1P gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AFG3L1P gene integrated from 9 sources:
(articles sorted by number of sources associating them with AFG3L1P)

Utopia: connect your pdf to the dynamic
world of online information

Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. (PubMed id 11549317)^{1, 3, 9} Kremmidiotis G....Callen D.F. (2001)
Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. (PubMed id 9545647)^{1, 3, 9} Shah Z.H....Jacobs H.T. (1998)
The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)¹ Warnatz H.J....Yaspo M.L. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Genome-wide association study identifies three loci a ssociated with melanoma risk. (PubMed id 19578364)¹ Bishop D.T....Bishop J.A. (2009)
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. (PubMed id 17101804)¹ Koppen M....Langer T. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Regulation of OPA1 processing and mitochondrial fusio n by m-AAA protease isoenzymes and OMA1. (PubMed id 20038678)⁹ Ehses S....Langer T. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 172	HGNC: 314	AceView: AFG3L1	Ensembl:ENSG00000223959	euGenes: HUgn172
ECgene: AFG3L1P	H-InvDB: AFG3L1P

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AFG3L1P	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AFG3L1P gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for AFG3L1P gene:
Search GeneIP for patents involving AFG3L1P

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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AFG3L1P Gene

AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene

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AFG3L1P Gene

AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene

Aliasesfor AFG3L1P gene

Summariesfor AFG3L1P gene

Genomic Viewsfor AFG3L1P gene

Proteinsfor AFG3L1P gene

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Transcriptsfor AFG3L1P gene

Expression for AFG3L1P gene

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External Searches for AFG3L1P gene

Genome Databases showing AFG3L1P gene

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Aliases
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Summaries
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Genomic Views
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Proteins
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Families
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Function
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Pathways & Interactions
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Drugs & Compounds
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Transcripts
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Expression
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Orthologs
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