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Protein

AFG1-like ATPase

Gene

AFG1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 reponse 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

  • mitochondrial electron transport, cytochrome c to oxygen Source: UniProtKB
  • mitochondrial protein catabolic process Source: UniProtKB
  • mitochondrion organization Source: UniProtKB

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.

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.

PTM databases

iPTMnetiQ8WV93.
PhosphoSitePlusiQ8WV93.

Expressioni

Gene expression databases

BgeeiENSG00000135537.
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. 2 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.

Sequencei

Sequence statusi: Complete.

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

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

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: November 22, 2017
This is version 126 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families