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Q8NHH9 (ATLA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ATL2
Synonyms:ARL6IP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length583 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. Ref.7 Ref.9

Subunit structure

Interacts with REEP5 and RTN3. Ref.9

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.7.

Tissue specificity

Expressed in peripheral tissues (at protein level). Ref.7

Sequence similarities

Belongs to the GBP family. Atlastin subfamily.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Reep5Q608702EBI-2410430,EBI-2410304From a different organism.
Rtn3Q9ES97-32EBI-2410430,EBI-1487798From a different organism.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Named isoforms=2.
Isoform 1 (identifier: Q8NHH9-1)

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.
Isoform 2 (identifier: Q8NHH9-2)

Also known as: AT2a;

The sequence of this isoform differs from the canonical sequence as follows:
     546-583: LKPLGDNLMEENIRQSVTNSIKAGLTDQVSHHARLKTD → FSKLFEVTRRRMVHRALSSAQRQRLSSNNNKKKN
Isoform 3 (identifier: Q8NHH9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.
Isoform 4 (identifier: Q8NHH9-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 583583Atlastin-2
PRO_0000287105

Regions

Topological domain1 – 476476Cytoplasmic Ref.7
Transmembrane477 – 49721Helical; Potential
Topological domain498 – 4992Lumenal Potential
Transmembrane500 – 52021Helical; Potential
Topological domain521 – 58363Cytoplasmic Ref.7
Nucleotide binding101 – 1088GTP By similarity
Nucleotide binding145 – 1473GTP By similarity
Nucleotide binding244 – 2452GTP By similarity
Nucleotide binding303 – 3064GTP By similarity
Coiled coil256 – 28429 Potential

Amino acid modifications

Modified residue241Phosphoserine Ref.8 Ref.10

Natural variations

Alternative sequence1 – 171171Missing in isoform 3.
VSP_025309
Alternative sequence1 – 3939MAEGD…STTSL → MVLKKGIKFFQRLINSKSLR F in isoform 4.
VSP_041604
Alternative sequence545 – 58339VLKPL…RLKTD → RSPRKVFSKLFEVTRRRMVH RALSSAQRQRLSSNNNKKKN in isoform 4.
VSP_041605
Alternative sequence546 – 58338LKPLG…RLKTD → FSKLFEVTRRRMVHRALSSA QRQRLSSNNNKKKN in isoform 2.
VSP_025310
Natural variant181W → R. Ref.1
Corresponds to variant rs3731847 [ dbSNP | Ensembl ].
VAR_032265
Natural variant2721N → S.
Corresponds to variant rs34873284 [ dbSNP | Ensembl ].
VAR_032266
Natural variant4201D → H.
Corresponds to variant rs7582826 [ dbSNP | Ensembl ].
VAR_032267

Experimental info

Mutagenesis1071K → A: Alters endoplasmic reticulum morphology. Ref.7
Mutagenesis2441R → Q: Alters endoplasmic reticulum morphogenesis. Ref.7
Sequence conflict5091G → E in BAB15598. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (AT2b) [UniParc].

Last modified May 15, 2007. Version 2.
Checksum: 885738C43996DEBF

FASTA58366,229
        10         20         30         40         50         60 
MAEGDEAARG QQPHQGLWRR RRTSDPSAAV NHVSSTTSLG ENYEDDDLVN SDEVMKKPCP 

        70         80         90        100        110        120 
VQIVLAHEDD HNFELDEEAL EQILLQEHIR DLNIVVVSVA GAFRKGKSFL LDFMLRYMYN 

       130        140        150        160        170        180 
KDSQSWIGGN NEPLTGFTWR GGCERETTGI QVWNEVFVID RPNGTKVAVL LMDTQGAFDS 

       190        200        210        220        230        240 
QSTIKDCATV FALSTMTSSV QVYNLSQNIQ EDDLQHLQLF TEYGRLAMEE IYQKPFQTLM 

       250        260        270        280        290        300 
FLIRDWSYPY EHSYGLEGGK QFLEKRLQVK QNQHEELQNV RKHIHNCFSN LGCFLLPHPG 

       310        320        330        340        350        360 
LKVATNPSFD GRLKDIDEDF KRELRNLVPL LLAPENLVEK EISGSKVTCR DLVEYFKAYI 

       370        380        390        400        410        420 
KIYQGEELPH PKSMLQATAE ANNLAAVAGA RDTYCKSMEQ VCGGDKPYIA PSDLERKHLD 

       430        440        450        460        470        480 
LKEVAIKQFR SVKKMGGDEF CRRYQDQLEA EIEETYANFI KHNDGKNIFY AARTPATLFA 

       490        500        510        520        530        540 
VMFAMYIISG LTGFIGLNSI AVLCNLVMGL ALIFLCTWAY VKYSGEFREI GTVIDQIAET 

       550        560        570        580 
LWEQVLKPLG DNLMEENIRQ SVTNSIKAGL TDQVSHHARL KTD 

« Hide

Isoform 2 (AT2a) [UniParc].

Checksum: 8C9D170C429AAA71
Show »

FASTA57966,087
Isoform 3 [UniParc].

Checksum: BA8D07DFDED793AF
Show »

FASTA41246,918
Isoform 4 [UniParc].

Checksum: 6D82F46C7FCB8490
Show »

FASTA56665,004

References

« Hide 'large scale' references
[1]"Physical/genetic map of the 2p22-2p21 region on chromosome 2."
Gorry M.C., Zhang Y., Marks J.J., Suppe B., Hart P.S., Cortelli J.R., Pallos D., Hart T.C.
Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANT ARG-18.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
Tissue: Cerebellum.
[3]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Colon.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[6]"Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin."
Zhu P.-P., Patterson A., Lavoie B., Stadler J., Shoeb M., Patel R., Blackstone C.
J. Biol. Chem. 278:49063-49071(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[7]"Atlastin GTPases are required for Golgi apparatus and ER morphogenesis."
Rismanchi N., Soderblom C., Stadler J., Zhu P.-P., Blackstone C.
Hum. Mol. Genet. 17:1591-1604(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TOPOLOGY, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-107 AND ARG-244, TISSUE SPECIFICITY.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A class of dynamin-like GTPases involved in the generation of the tubular ER network."
Hu J., Shibata Y., Zhu P.-P., Voss C., Rismanchi N., Prinz W.A., Rapoport T.A., Blackstone C.
Cell 138:549-561(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH REEP5 AND RTN3.
[10]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[11]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF449187 expand/collapse EMBL AC list , AF449176, AF449177, AF449178, AF449179, AF449180, AF449181, AF449182, AF449183, AF449184, AF449185, AF449186 Genomic DNA. Translation: AAM97341.1.
AF449187 expand/collapse EMBL AC list , AF449176, AF449177, AF449178, AF449179, AF449180, AF449181, AF449182, AF449183, AF449184, AF449185, AF449186 Genomic DNA. Translation: AAM97342.1.
AK294049 mRNA. Translation: BAH11658.1.
AK026946 mRNA. Translation: BAB15598.1.
AK225190 mRNA. No translation available.
AC016995 Genomic DNA. Translation: AAX88950.1.
BC053508 mRNA. Translation: AAH53508.1.
RefSeqNP_001129145.1. NM_001135673.1.
NP_071769.2. NM_022374.2.
UniGeneHs.727652.

3D structure databases

ProteinModelPortalQ8NHH9.
SMRQ8NHH9. Positions 57-469.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122115. 3 interactions.
IntActQ8NHH9. 4 interactions.
MINTMINT-3295758.
STRING9606.ENSP00000368237.

PTM databases

PhosphoSiteQ8NHH9.

Polymorphism databases

DMDM147742983.

Proteomic databases

PaxDbQ8NHH9.
PRIDEQ8NHH9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332337; ENSP00000333393; ENSG00000119787. [Q8NHH9-4]
ENST00000378954; ENSP00000368237; ENSG00000119787. [Q8NHH9-1]
ENST00000402054; ENSP00000384062; ENSG00000119787. [Q8NHH9-3]
ENST00000419554; ENSP00000415336; ENSG00000119787. [Q8NHH9-2]
ENST00000539122; ENSP00000446192; ENSG00000119787. [Q8NHH9-3]
GeneID64225.
KEGGhsa:64225.
UCSCuc002rqq.3. human. [Q8NHH9-1]
uc002rqs.3. human. [Q8NHH9-2]
uc010ynm.2. human. [Q8NHH9-4]

Organism-specific databases

CTD64225.
GeneCardsGC02M038522.
HGNCHGNC:24047. ATL2.
HPAHPA029108.
MIM609368. gene.
neXtProtNX_Q8NHH9.
PharmGKBPA164716322.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325148.
HOGENOMHOG000234332.
HOVERGENHBG062891.
InParanoidQ8NHH9.
KOK17339.
OMAAREIYCK.
OrthoDBEOG7H4DTH.
TreeFamTF105251.

Gene expression databases

ArrayExpressQ8NHH9.
BgeeQ8NHH9.
CleanExHS_ATL2.
GenevestigatorQ8NHH9.

Family and domain databases

InterProIPR003191. Guanylate-bd_C.
IPR015894. Guanylate-bd_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF02263. GBP. 1 hit.
PF02841. GBP_C. 1 hit.
[Graphical view]
SUPFAMSSF48340. SSF48340. 1 hit.
SSF52540. SSF52540. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi64225.
NextBio66162.
PROQ8NHH9.
SOURCESearch...

Entry information

Entry nameATLA2_HUMAN
AccessionPrimary (citable) accession number: Q8NHH9
Secondary accession number(s): B7Z1X2 expand/collapse secondary AC list , Q4ZG30, Q7Z630, Q8NHH8, Q9H5M7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: March 19, 2014
This is version 84 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM