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Protein

AFG3-like protein 2

Gene

AFG3L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

ATP-dependent protease which is essential for axonal development.By similarity

Cofactori

Zn2+CuratedNote: Binds 1 zinc ion per subunit.Curated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi574 – 5741Zinc; catalyticBy similarity
Active sitei575 – 5751By similarity
Metal bindingi578 – 5781Zinc; catalyticBy similarity
Metal bindingi649 – 6491Zinc; catalyticBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi348 – 3558ATPSequence analysis

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.B18. 2681.

Protein family/group databases

MEROPSiM41.007.

Names & Taxonomyi

Protein namesi
Recommended name:
AFG3-like protein 2 (EC:3.4.24.-)
Alternative name(s):
Paraplegin-like protein
Gene namesi
Name:AFG3L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:315. AFG3L2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei143 – 16321HelicalSequence analysisAdd
BLAST
Transmembranei251 – 27121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 28 (SCA28)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.
See also OMIM:610246
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti432 – 4321N → T in SCA28. 1 Publication
Corresponds to variant rs151344512 [ dbSNP | Ensembl ].
VAR_063544
Natural varianti654 – 6541T → I in SCA28. 1 Publication
Corresponds to variant rs151344513 [ dbSNP | Ensembl ].
VAR_064402
Natural varianti666 – 6661M → R in SCA28. 1 Publication
Corresponds to variant rs151344515 [ dbSNP | Ensembl ].
VAR_064403
Natural varianti666 – 6661M → T in SCA28. 1 Publication
Corresponds to variant rs151344515 [ dbSNP | Ensembl ].
VAR_064404
Natural varianti666 – 6661M → V in SCA28. 1 Publication
Corresponds to variant rs151344514 [ dbSNP | Ensembl ].
VAR_064405
Natural varianti671 – 6711G → E in SCA28. 1 Publication
Corresponds to variant rs151344518 [ dbSNP | Ensembl ].
VAR_064406
Natural varianti671 – 6711G → R in SCA28. 1 Publication
Corresponds to variant rs151344517 [ dbSNP | Ensembl ].
VAR_064407
Natural varianti689 – 6891Y → H in SCA28. 1 Publication
VAR_075198
Natural varianti689 – 6891Y → N in SCA28. 1 Publication
VAR_075199
Natural varianti691 – 6911E → K in SCA28. 1 Publication
Corresponds to variant rs151344520 [ dbSNP | Ensembl ].
VAR_063545
Natural varianti694 – 6941A → E in SCA28. 1 Publication
Corresponds to variant rs151344521 [ dbSNP | Ensembl ].
VAR_063546
Natural varianti700 – 7001E → K in SCA28. 1 Publication
Corresponds to variant rs151344522 [ dbSNP | Ensembl ].
VAR_064408
Natural varianti702 – 7021R → Q in SCA28. 1 Publication
Corresponds to variant rs151344523 [ dbSNP | Ensembl ].
VAR_063547
Spastic ataxia 5, autosomal recessive (SPAX5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.
See also OMIM:614487
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti616 – 6161Y → C in SPAX5; hypomorphic mutation; results in impaired oligomerization with itself and SPG7; retains ATPase and proteolytic activities. 1 Publication
Corresponds to variant rs387906889 [ dbSNP | Ensembl ].
VAR_067330

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MalaCardsiAFG3L2.
MIMi610246. phenotype.
614487. phenotype.
Orphaneti313772. Early-onset spastic ataxia-neuropathy syndrome.
101109. Spinocerebellar ataxia type 28.
PharmGKBiPA24612.

Chemistry

DrugBankiDB00171. Adenosine triphosphate.

Polymorphism and mutation databases

BioMutaiAFG3L2.
DMDMi126302516.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 797797AFG3-like protein 2PRO_0000084673Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei117 – 1171N6-succinyllysineBy similarity

Proteomic databases

EPDiQ9Y4W6.
MaxQBiQ9Y4W6.
PaxDbiQ9Y4W6.
PeptideAtlasiQ9Y4W6.
PRIDEiQ9Y4W6.
TopDownProteomicsiQ9Y4W6.

PTM databases

iPTMnetiQ9Y4W6.
PhosphoSiteiQ9Y4W6.
SwissPalmiQ9Y4W6.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in the cerebellar Purkinje cells.1 Publication

Gene expression databases

BgeeiENSG00000141385.
CleanExiHS_AFG3L2.
ExpressionAtlasiQ9Y4W6. baseline and differential.
GenevisibleiQ9Y4W6. HS.

Organism-specific databases

HPAiHPA004479.
HPA004480.

Interactioni

Subunit structurei

Homooligomer. Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I.2 Publications

GO - Molecular functioni

  • unfolded protein binding Source: ProtInc

Protein-protein interaction databases

BioGridi116139. 54 interactions.
IntActiQ9Y4W6. 41 interactions.
MINTiMINT-1161944.
STRINGi9606.ENSP00000269143.

Structurei

Secondary structure

1
797
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi165 – 1695Combined sources
Helixi172 – 1787Combined sources
Helixi180 – 1823Combined sources
Beta strandi185 – 1917Combined sources
Turni192 – 1943Combined sources
Beta strandi195 – 2006Combined sources
Turni202 – 2043Combined sources
Beta strandi212 – 2154Combined sources
Helixi219 – 23214Combined sources
Turni237 – 2393Combined sources
Beta strandi243 – 2453Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LNANMR-A164-251[»]
ProteinModelPortaliQ9Y4W6.
SMRiQ9Y4W6. Positions 163-251, 296-750.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

In the N-terminal section; belongs to the AAA ATPase family.Curated
In the C-terminal section; belongs to the peptidase M41 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0731. Eukaryota.
COG0465. LUCA.
GeneTreeiENSGT00840000129814.
HOVERGENiHBG050184.
InParanoidiQ9Y4W6.
KOiK08956.
OMAiCLRLWGR.
OrthoDBiEOG091G03EQ.
PhylomeDBiQ9Y4W6.
TreeFamiTF105004.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_01458. FtsH. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y4W6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAHRCLRLWG RGGCWPRGLQ QLLVPGGVGP GEQPCLRTLY RFVTTQARAS
60 70 80 90 100
RNSLLTDIIA AYQRFCSRPP KGFEKYFPNG KNGKKASEPK EVMGEKKESK
110 120 130 140 150
PAATTRSSGG GGGGGGKRGG KKDDSHWWSR FQKGDIPWDD KDFRMFFLWT
160 170 180 190 200
ALFWGGVMFY LLLKRSGREI TWKDFVNNYL SKGVVDRLEV VNKRFVRVTF
210 220 230 240 250
TPGKTPVDGQ YVWFNIGSVD TFERNLETLQ QELGIEGENR VPVVYIAESD
260 270 280 290 300
GSFLLSMLPT VLIIAFLLYT IRRGPAGIGR TGRGMGGLFS VGETTAKVLK
310 320 330 340 350
DEIDVKFKDV AGCEEAKLEI MEFVNFLKNP KQYQDLGAKI PKGAILTGPP
360 370 380 390 400
GTGKTLLAKA TAGEANVPFI TVSGSEFLEM FVGVGPARVR DLFALARKNA
410 420 430 440 450
PCILFIDEID AVGRKRGRGN FGGQSEQENT LNQLLVEMDG FNTTTNVVIL
460 470 480 490 500
AGTNRPDILD PALLRPGRFD RQIFIGPPDI KGRASIFKVH LRPLKLDSTL
510 520 530 540 550
EKDKLARKLA SLTPGFSGAD VANVCNEAAL IAARHLSDSI NQKHFEQAIE
560 570 580 590 600
RVIGGLEKKT QVLQPEEKKT VAYHEAGHAV AGWYLEHADP LLKVSIIPRG
610 620 630 640 650
KGLGYAQYLP KEQYLYTKEQ LLDRMCMTLG GRVSEEIFFG RITTGAQDDL
660 670 680 690 700
RKVTQSAYAQ IVQFGMNEKV GQISFDLPRQ GDMVLEKPYS EATARLIDDE
710 720 730 740 750
VRILINDAYK RTVALLTEKK ADVEKVALLL LEKEVLDKND MVELLGPRPF
760 770 780 790
AEKSTYEEFV EGTGSLDEDT SLPEGLKDWN KEREKEKEEP PGEKVAN
Length:797
Mass (Da):88,584
Last modified:February 20, 2007 - v2
Checksum:iEACBB7C5F2EE5E08
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti74 – 741E → G in CAB48398 (PubMed:10395799).Curated
Sequence conflicti633 – 6331V → A in CAB48398 (PubMed:10395799).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti432 – 4321N → T in SCA28. 1 Publication
Corresponds to variant rs151344512 [ dbSNP | Ensembl ].
VAR_063544
Natural varianti616 – 6161Y → C in SPAX5; hypomorphic mutation; results in impaired oligomerization with itself and SPG7; retains ATPase and proteolytic activities. 1 Publication
Corresponds to variant rs387906889 [ dbSNP | Ensembl ].
VAR_067330
Natural varianti654 – 6541T → I in SCA28. 1 Publication
Corresponds to variant rs151344513 [ dbSNP | Ensembl ].
VAR_064402
Natural varianti666 – 6661M → R in SCA28. 1 Publication
Corresponds to variant rs151344515 [ dbSNP | Ensembl ].
VAR_064403
Natural varianti666 – 6661M → T in SCA28. 1 Publication
Corresponds to variant rs151344515 [ dbSNP | Ensembl ].
VAR_064404
Natural varianti666 – 6661M → V in SCA28. 1 Publication
Corresponds to variant rs151344514 [ dbSNP | Ensembl ].
VAR_064405
Natural varianti671 – 6711G → E in SCA28. 1 Publication
Corresponds to variant rs151344518 [ dbSNP | Ensembl ].
VAR_064406
Natural varianti671 – 6711G → R in SCA28. 1 Publication
Corresponds to variant rs151344517 [ dbSNP | Ensembl ].
VAR_064407
Natural varianti689 – 6891Y → H in SCA28. 1 Publication
VAR_075198
Natural varianti689 – 6891Y → N in SCA28. 1 Publication
VAR_075199
Natural varianti691 – 6911E → K in SCA28. 1 Publication
Corresponds to variant rs151344520 [ dbSNP | Ensembl ].
VAR_063545
Natural varianti694 – 6941A → E in SCA28. 1 Publication
Corresponds to variant rs151344521 [ dbSNP | Ensembl ].
VAR_063546
Natural varianti700 – 7001E → K in SCA28. 1 Publication
Corresponds to variant rs151344522 [ dbSNP | Ensembl ].
VAR_064408
Natural varianti702 – 7021R → Q in SCA28. 1 Publication
Corresponds to variant rs151344523 [ dbSNP | Ensembl ].
VAR_063547

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18314 mRNA. Translation: CAB48398.1.
BC065016 mRNA. Translation: AAH65016.1.
CCDSiCCDS11859.1.
RefSeqiNP_006787.2. NM_006796.2.
UniGeneiHs.726355.

Genome annotation databases

EnsembliENST00000269143; ENSP00000269143; ENSG00000141385.
GeneIDi10939.
KEGGihsa:10939.
UCSCiuc002kqz.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18314 mRNA. Translation: CAB48398.1.
BC065016 mRNA. Translation: AAH65016.1.
CCDSiCCDS11859.1.
RefSeqiNP_006787.2. NM_006796.2.
UniGeneiHs.726355.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LNANMR-A164-251[»]
ProteinModelPortaliQ9Y4W6.
SMRiQ9Y4W6. Positions 163-251, 296-750.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116139. 54 interactions.
IntActiQ9Y4W6. 41 interactions.
MINTiMINT-1161944.
STRINGi9606.ENSP00000269143.

Chemistry

DrugBankiDB00171. Adenosine triphosphate.

Protein family/group databases

MEROPSiM41.007.

PTM databases

iPTMnetiQ9Y4W6.
PhosphoSiteiQ9Y4W6.
SwissPalmiQ9Y4W6.

Polymorphism and mutation databases

BioMutaiAFG3L2.
DMDMi126302516.

Proteomic databases

EPDiQ9Y4W6.
MaxQBiQ9Y4W6.
PaxDbiQ9Y4W6.
PeptideAtlasiQ9Y4W6.
PRIDEiQ9Y4W6.
TopDownProteomicsiQ9Y4W6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269143; ENSP00000269143; ENSG00000141385.
GeneIDi10939.
KEGGihsa:10939.
UCSCiuc002kqz.3. human.

Organism-specific databases

CTDi10939.
GeneCardsiAFG3L2.
GeneReviewsiAFG3L2.
H-InvDBHIX0027367.
HGNCiHGNC:315. AFG3L2.
HPAiHPA004479.
HPA004480.
MalaCardsiAFG3L2.
MIMi604581. gene.
610246. phenotype.
614487. phenotype.
neXtProtiNX_Q9Y4W6.
Orphaneti313772. Early-onset spastic ataxia-neuropathy syndrome.
101109. Spinocerebellar ataxia type 28.
PharmGKBiPA24612.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0731. Eukaryota.
COG0465. LUCA.
GeneTreeiENSGT00840000129814.
HOVERGENiHBG050184.
InParanoidiQ9Y4W6.
KOiK08956.
OMAiCLRLWGR.
OrthoDBiEOG091G03EQ.
PhylomeDBiQ9Y4W6.
TreeFamiTF105004.

Enzyme and pathway databases

BRENDAi3.4.24.B18. 2681.

Miscellaneous databases

GeneWikiiAFG3L2.
GenomeRNAii10939.
PROiQ9Y4W6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141385.
CleanExiHS_AFG3L2.
ExpressionAtlasiQ9Y4W6. baseline and differential.
GenevisibleiQ9Y4W6. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_01458. FtsH. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAFG32_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4W6
Secondary accession number(s): Q6P1L0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: February 20, 2007
Last modified: September 7, 2016
This is version 162 of the entry and version 2 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.