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Protein

AFG1-like ATPase

Gene

AFG1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi136 – 143ATPCurated8
Nucleotide bindingi209 – 214ATPCurated6

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
AFG1-like ATPaseImported
Alternative name(s):
Lactation elevated protein 11 Publication (EC:3.6.-.-Curated)
Protein AFG1 homolog
Gene namesi
Name:AFG1LImported
Synonyms:AFG1, LACE11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000135537.16
HGNCiHGNC:16411 AFG1L
MIMi617469 gene
neXtProtiNX_Q8WV93

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi142K → A: Does not affect mitochondrial targeting. Increased amount of unprocessed protein form. Fails to rescue the increased accumulation of complex IV subunits in AFG1L-deficient cell line. Reduces mitochondrial targeting; when associated with V-143. 1 Publication1
Mutagenesisi143T → V: Reduces mitochondrial targeting. Increased amount of unprocessed protein form. Reduces mitochondrial targeting; when associated with A-142. 1 Publication1
Mutagenesisi214E → Q: Does not affect subcellular location. Fails to rescue the increased accumulation of complex IV subunits in AFG1L-deficient cell line. 1 Publication1

Organism-specific databases

DisGeNETi246269
OpenTargetsiENSG00000135537
PharmGKBiPA38404

Polymorphism and mutation databases

BioMutaiLACE1
DMDMi74762631

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002795211 – 481AFG1-like ATPaseAdd BLAST481

Proteomic databases

EPDiQ8WV93
MaxQBiQ8WV93
PaxDbiQ8WV93
PeptideAtlasiQ8WV93
PRIDEiQ8WV93
ProteomicsDBi74765

PTM databases

iPTMnetiQ8WV93
PhosphoSitePlusiQ8WV93

Expressioni

Gene expression databases

BgeeiENSG00000135537 Expressed in 103 organ(s), highest expression level in testis
CleanExiHS_LACE1
ExpressionAtlasiQ8WV93 baseline and differential
GenevisibleiQ8WV93 HS

Organism-specific databases

HPAiHPA030154
HPA030155
HPA030659

Interactioni

Subunit structurei

Found in several complexes of 140-500 kDa. Interacts with YME1L1 (PubMed:26759378). Interacts with COX4I1 (PubMed:26759378). Interacts with COX5A (PubMed:26759378). Interacts with TP53; mediates mitochondrial translocation of TP53 in response to genotoxic stress such as mitomycin C treatment (PubMed:27323408).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BANPQ8N9N53EBI-2865743,EBI-744695

Protein-protein interaction databases

BioGridi128885, 8 interactors
IntActiQ8WV93, 6 interactors
STRINGi9606.ENSP00000357973

Structurei

3D structure databases

ProteinModelPortaliQ8WV93
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AFG1 ATPase family.Curated

Phylogenomic databases

eggNOGiKOG2383 Eukaryota
COG1485 LUCA
GeneTreeiENSGT00390000013227
HOGENOMiHOG000259600
HOVERGENiHBG081885
InParanoidiQ8WV93
KOiK18798
OMAiFYDRNVK
OrthoDBiEOG091G0CUD
PhylomeDBiQ8WV93
TreeFamiTF314551

Family and domain databases

InterProiView protein in InterPro
IPR005654 ATPase_AFG1-like
IPR027417 P-loop_NTPase
PANTHERiPTHR12169 PTHR12169, 1 hit
PfamiView protein in Pfam
PF03969 AFG1_ATPase, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8WV93-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAASWSLLVT LRPLAQSPLR GRCVGCGAWA AALAPLATAP GKPFWKAYTV
60 70 80 90 100
QTSESMTPTA TSETYLKALA VCHGPLDHYD FLIKAHELKD DEHQRRVIQC
110 120 130 140 150
LQKLHEDLKG YNIEAEGLFS KLFSRSKPPR GLYVYGDVGT GKTMVMDMFY
160 170 180 190 200
AYVEMKRKKR VHFHGFMLDV HKRIHRLKQS LPKRKPGFMA KSYDPIAPIA
210 220 230 240 250
EEISEEACLL CFDEFQVTDI ADAMILKQLF ENLFKNGVVV VATSNRPPED
260 270 280 290 300
LYKNGLQRAN FVPFIAVLKE YCNTVQLDSG IDYRKRELPA AGKLYYLTSE
310 320 330 340 350
ADVEAVMDKL FDELAQKQND LTRPRILKVQ GRELRLNKAC GTVADCTFEE
360 370 380 390 400
LCERPLGASD YLELSKNFDT IFLRNIPQFT LANRTQGRRF ITLIDNFYDL
410 420 430 440 450
KVRIICSAST PISSLFLHQH HDSELEQSRI LMDDLGLSQD SAEGLSMFTG
460 470 480
EEEIFAFQRT ISRLTEMQTE QYWNEGDRTK K
Length:481
Mass (Da):54,845
Last modified:March 1, 2004 - v2
Checksum:i5B612E3B657DCA12
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6ZJA2A6ZJA2_HUMAN
AFG1-like ATPase
AFG1L
160Annotation score:
H7C448H7C448_HUMAN
AFG1-like ATPase
AFG1L
80Annotation score:
H0Y5F4H0Y5F4_HUMAN
AFG1-like ATPase
AFG1L
349Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF520418 mRNA Translation: AAM74228.1
AL356121 Genomic DNA No translation available.
Z98742 Genomic DNA No translation available.
AL353706 Genomic DNA No translation available.
AL139106 Genomic DNA No translation available.
BC018445 mRNA Translation: AAH18445.2
CCDSiCCDS5067.1
RefSeqiNP_001309934.1, NM_001323005.1
NP_660358.2, NM_145315.4
UniGeneiHs.259666

Genome annotation databases

EnsembliENST00000368977; ENSP00000357973; ENSG00000135537
GeneIDi246269
KEGGihsa:246269
UCSCiuc003psj.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF520418 mRNA Translation: AAM74228.1
AL356121 Genomic DNA No translation available.
Z98742 Genomic DNA No translation available.
AL353706 Genomic DNA No translation available.
AL139106 Genomic DNA No translation available.
BC018445 mRNA Translation: AAH18445.2
CCDSiCCDS5067.1
RefSeqiNP_001309934.1, NM_001323005.1
NP_660358.2, NM_145315.4
UniGeneiHs.259666

3D structure databases

ProteinModelPortaliQ8WV93
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128885, 8 interactors
IntActiQ8WV93, 6 interactors
STRINGi9606.ENSP00000357973

PTM databases

iPTMnetiQ8WV93
PhosphoSitePlusiQ8WV93

Polymorphism and mutation databases

BioMutaiLACE1
DMDMi74762631

Proteomic databases

EPDiQ8WV93
MaxQBiQ8WV93
PaxDbiQ8WV93
PeptideAtlasiQ8WV93
PRIDEiQ8WV93
ProteomicsDBi74765

Protocols and materials databases

DNASUi246269
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368977; ENSP00000357973; ENSG00000135537
GeneIDi246269
KEGGihsa:246269
UCSCiuc003psj.4 human

Organism-specific databases

CTDi246269
DisGeNETi246269
EuPathDBiHostDB:ENSG00000135537.16
GeneCardsiAFG1L
HGNCiHGNC:16411 AFG1L
HPAiHPA030154
HPA030155
HPA030659
MIMi617469 gene
neXtProtiNX_Q8WV93
OpenTargetsiENSG00000135537
PharmGKBiPA38404
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2383 Eukaryota
COG1485 LUCA
GeneTreeiENSGT00390000013227
HOGENOMiHOG000259600
HOVERGENiHBG081885
InParanoidiQ8WV93
KOiK18798
OMAiFYDRNVK
OrthoDBiEOG091G0CUD
PhylomeDBiQ8WV93
TreeFamiTF314551

Miscellaneous databases

ChiTaRSiLACE1 human
GenomeRNAii246269
PROiPR:Q8WV93
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135537 Expressed in 103 organ(s), highest expression level in testis
CleanExiHS_LACE1
ExpressionAtlasiQ8WV93 baseline and differential
GenevisibleiQ8WV93 HS

Family and domain databases

InterProiView protein in InterPro
IPR005654 ATPase_AFG1-like
IPR027417 P-loop_NTPase
PANTHERiPTHR12169 PTHR12169, 1 hit
PfamiView protein in Pfam
PF03969 AFG1_ATPase, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAFG1L_HUMAN
AccessioniPrimary (citable) accession number: Q8WV93
Secondary accession number(s): Q8N6A3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 1, 2004
Last modified: October 10, 2018
This is version 132 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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