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Protein

Atlastin-2

Gene

ATL2

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

Functioni

GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977).3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi101 – 108GTPBy similarity8
Nucleotide bindingi145 – 147GTPBy similarity3
Nucleotide bindingi244 – 245GTPBy similarity2
Nucleotide bindingi303 – 306GTPBy similarity4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • identical protein binding Source: UniProtKB

GO - Biological processi

  • endoplasmic reticulum organization Source: UniProtKB
  • endoplasmic reticulum tubular network membrane organization Source: UniProtKB
  • Golgi organization Source: UniProtKB
  • protein homooligomerization Source: UniProtKB

Keywordsi

Molecular functionHydrolase
LigandGTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Atlastin-2 (EC:3.6.5.-)
Alternative name(s):
ADP-ribosylation factor-like protein 6-interacting protein 2
Short name:
ARL-6-interacting protein 2
Short name:
Aip-2
Gene namesi
Name:ATL2
Synonyms:ARL6IP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000119787.13
HGNCiHGNC:24047 ATL2
MIMi609368 gene
neXtProtiNX_Q8NHH9

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 476Cytoplasmic1 PublicationAdd BLAST476
Transmembranei477 – 497HelicalSequence analysisAdd BLAST21
Topological domaini498 – 499LumenalSequence analysis2
Transmembranei500 – 520HelicalSequence analysisAdd BLAST21
Topological domaini521 – 583Cytoplasmic1 PublicationAdd BLAST63

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi107K → A: Alters endoplasmic reticulum morphology. 2 Publications1
Mutagenesisi244R → Q: Alters endoplasmic reticulum morphogenesis. 1 Publication1

Organism-specific databases

DisGeNETi64225
OpenTargetsiENSG00000119787
PharmGKBiPA164716322

Polymorphism and mutation databases

BioMutaiATL2
DMDMi147742983

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002871051 – 583Atlastin-2Add BLAST583

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei24PhosphoserineCombined sources1
Modified residuei270N6-methyllysineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ8NHH9
MaxQBiQ8NHH9
PaxDbiQ8NHH9
PeptideAtlasiQ8NHH9
PRIDEiQ8NHH9
ProteomicsDBi73710
73711 [Q8NHH9-2]
73712 [Q8NHH9-3]
73713 [Q8NHH9-4]

PTM databases

iPTMnetiQ8NHH9
PhosphoSitePlusiQ8NHH9

Expressioni

Tissue specificityi

Expressed in peripheral tissues (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000119787
CleanExiHS_ATL2
ExpressionAtlasiQ8NHH9 baseline and differential
GenevisibleiQ8NHH9 HS

Organism-specific databases

HPAiHPA029108
HPA075302

Interactioni

Subunit structurei

Interacts with REEP5 and RTN3 (PubMed:19665976). Interacts with ZFYVE27 (PubMed:23969831).2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi122115, 39 interactors
CORUMiQ8NHH9
IntActiQ8NHH9, 22 interactors
MINTiQ8NHH9
STRINGi9606.ENSP00000368237

Structurei

3D structure databases

ProteinModelPortaliQ8NHH9
SMRiQ8NHH9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini91 – 336GB1/RHD3-type GAdd BLAST246

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili256 – 284Sequence analysisAdd BLAST29

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2037 Eukaryota
ENOG410XR6Z LUCA
GeneTreeiENSGT00390000008959
HOGENOMiHOG000234332
HOVERGENiHBG062891
InParanoidiQ8NHH9
KOiK17339
OMAiCMEKGIQ
OrthoDBiEOG091G053P
PhylomeDBiQ8NHH9
TreeFamiTF105251

Family and domain databases

InterProiView protein in InterPro
IPR030386 G_GB1_RHD3_dom
IPR003191 Guanylate-bd/ATL_C
IPR036543 Guanylate-bd_C_sf
IPR015894 Guanylate-bd_N
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF02263 GBP, 1 hit
PF02841 GBP_C, 1 hit
SUPFAMiSSF48340 SSF48340, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51715 G_GB1_RHD3, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NHH9-1) [UniParc]FASTAAdd to basket
Also known as: AT2b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEGDEAARG QQPHQGLWRR RRTSDPSAAV NHVSSTTSLG ENYEDDDLVN
60 70 80 90 100
SDEVMKKPCP VQIVLAHEDD HNFELDEEAL EQILLQEHIR DLNIVVVSVA
110 120 130 140 150
GAFRKGKSFL LDFMLRYMYN KDSQSWIGGN NEPLTGFTWR GGCERETTGI
160 170 180 190 200
QVWNEVFVID RPNGTKVAVL LMDTQGAFDS QSTIKDCATV FALSTMTSSV
210 220 230 240 250
QVYNLSQNIQ EDDLQHLQLF TEYGRLAMEE IYQKPFQTLM FLIRDWSYPY
260 270 280 290 300
EHSYGLEGGK QFLEKRLQVK QNQHEELQNV RKHIHNCFSN LGCFLLPHPG
310 320 330 340 350
LKVATNPSFD GRLKDIDEDF KRELRNLVPL LLAPENLVEK EISGSKVTCR
360 370 380 390 400
DLVEYFKAYI KIYQGEELPH PKSMLQATAE ANNLAAVAGA RDTYCKSMEQ
410 420 430 440 450
VCGGDKPYIA PSDLERKHLD LKEVAIKQFR SVKKMGGDEF CRRYQDQLEA
460 470 480 490 500
EIEETYANFI KHNDGKNIFY AARTPATLFA VMFAMYIISG LTGFIGLNSI
510 520 530 540 550
AVLCNLVMGL ALIFLCTWAY VKYSGEFREI GTVIDQIAET LWEQVLKPLG
560 570 580
DNLMEENIRQ SVTNSIKAGL TDQVSHHARL KTD
Length:583
Mass (Da):66,229
Last modified:May 15, 2007 - v2
Checksum:i885738C43996DEBF
GO
Isoform 2 (identifier: Q8NHH9-2) [UniParc]FASTAAdd to basket
Also known as: AT2a

The sequence of this isoform differs from the canonical sequence as follows:
     546-583: LKPLGDNLMEENIRQSVTNSIKAGLTDQVSHHARLKTD → FSKLFEVTRRRMVHRALSSAQRQRLSSNNNKKKN

Show »
Length:579
Mass (Da):66,087
Checksum:i8C9D170C429AAA71
GO
Isoform 3 (identifier: Q8NHH9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.

Show »
Length:412
Mass (Da):46,918
Checksum:iBA8D07DFDED793AF
GO
Isoform 4 (identifier: Q8NHH9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: MAEGDEAARGQQPHQGLWRRRRTSDPSAAVNHVSSTTSL → MVLKKGIKFFQRLINSKSLRF
     545-583: VLKPLGDNLM...VSHHARLKTD → RSPRKVFSKL...LSSNNNKKKN

Show »
Length:566
Mass (Da):65,004
Checksum:i6D82F46C7FCB8490
GO
Isoform 5 (identifier: Q8NHH9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: MAEGDEAARGQQPHQGLWRRRRTSDPSAAVNHVSSTTSL → MVLKKGIKFFQRLINSKSLRF

Note: No experimental confirmation available.
Show »
Length:565
Mass (Da):64,522
Checksum:i9E1671FFF406376A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti509G → E in BAB15598 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03226518W → R1 PublicationCorresponds to variant dbSNP:rs3731847Ensembl.1
Natural variantiVAR_032266272N → S. Corresponds to variant dbSNP:rs34873284Ensembl.1
Natural variantiVAR_032267420D → H. Corresponds to variant dbSNP:rs7582826Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0253091 – 171Missing in isoform 3. 1 PublicationAdd BLAST171
Alternative sequenceiVSP_0416041 – 39MAEGD…STTSL → MVLKKGIKFFQRLINSKSLR F in isoform 4 and isoform 5. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_041605545 – 583VLKPL…RLKTD → RSPRKVFSKLFEVTRRRMVH RALSSAQRQRLSSNNNKKKN in isoform 4. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_025310546 – 583LKPLG…RLKTD → FSKLFEVTRRRMVHRALSSA QRQRLSSNNNKKKN in isoform 2. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF449187
, AF449176, AF449177, AF449178, AF449179, AF449180, AF449181, AF449182, AF449183, AF449184, AF449185, AF449186 Genomic DNA Translation: AAM97341.1
AF449187
, AF449176, AF449177, AF449178, AF449179, AF449180, AF449181, AF449182, AF449183, AF449184, AF449185, AF449186 Genomic DNA Translation: AAM97342.1
AK026946 mRNA Translation: BAB15598.1
AK294049 mRNA Translation: BAH11658.1
AK302621 mRNA Translation: BAH13764.1
AK225190 mRNA No translation available.
AC016995 Genomic DNA Translation: AAX88950.1
BC053508 mRNA Translation: AAH53508.1
CCDSiCCDS1795.1 [Q8NHH9-2]
CCDS46260.1 [Q8NHH9-1]
CCDS77402.1 [Q8NHH9-5]
RefSeqiNP_001129145.1, NM_001135673.3 [Q8NHH9-1]
NP_001295005.1, NM_001308076.1 [Q8NHH9-5]
NP_001317387.1, NM_001330458.1 [Q8NHH9-3]
NP_001317388.1, NM_001330459.1 [Q8NHH9-4]
NP_001317389.1, NM_001330460.1
NP_071769.2, NM_022374.4 [Q8NHH9-2]
UniGeneiHs.594950
Hs.727652

Genome annotation databases

EnsembliENST00000378954; ENSP00000368237; ENSG00000119787 [Q8NHH9-1]
ENST00000402054; ENSP00000384062; ENSG00000119787 [Q8NHH9-3]
ENST00000419554; ENSP00000415336; ENSG00000119787 [Q8NHH9-2]
ENST00000452935; ENSP00000390743; ENSG00000119787 [Q8NHH9-5]
GeneIDi64225
KEGGihsa:64225
UCSCiuc002rqq.4 human [Q8NHH9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiATLA2_HUMAN
AccessioniPrimary (citable) accession number: Q8NHH9
Secondary accession number(s): B7Z1X2
, B7Z7X8, Q4ZG30, Q7Z630, Q8NHH8, Q9H5M7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: July 18, 2018
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 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

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