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Reviewed, UniProtKB/Swiss-Prot Q9C0C7 (AMRA1_HUMAN)

Last modified November 4, 2008. Version 44. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Activating molecule in BECN1-regulated autophagy protein 1
Gene names
Name: AMBRA1
Synonyms: KIAA1736
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1298 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation By similarity.

Subunit structure

Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 By similarity.

Subcellular location

Cytoplasmic vesicleautophagosomeBy similarity.

Sequence similarities

Contains 3 WD repeats.

Sequence caution

The sequence BAA91067.1 differs from that shown. Reason: Frameshift at position 682.

Ontologies

Keywords

   Biological processAutophagy
Differentiation
Neurogenesis
   Cellular componentCytoplasmic vesicle
   Coding sequence diversityAlternative splicing
   DomainRepeat
WD repeat
   Molecular functionDevelopmental protein

Gene Ontology (GO)

   Cellular componentcytoplasm Ref.1

Inferred from direct assay. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9C0C7-1)

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: Q9C0C7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     721-780: Missing.
Isoform 3 (identifier: Q9C0C7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     691-719: Missing.
Isoform 4 (identifier: Q9C0C7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.
Isoform 5 (identifier: Q9C0C7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.
     691-691: R → RRSLALSPRL...ITGVSHRAWP

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12981298Activating molecule in BECN1-regulated autophagy protein 1
PRO_0000315703

Regions

Repeat51 – 9040WD 1
Repeat93 – 13341WD 2
Repeat135 – 17541WD 3
Compositional bias268 – 27710Poly-Pro
Compositional bias592 – 63948Ser-rich

Natural variations

Alternative sequence255 – 34490Missing in isoform 4 and isoform 5.
VSP_030654
Alternative sequence691 – 71929Missing in isoform 3.
VSP_030655
Alternative sequence6911R → RRSLALSPRLEYSGAILAHC KLRLPGSCHSPASASQVAGT TGAHHHARLIFAFLVEMEFH HVSQAGLELLTSGDLPTSAS QSAGITGVSHRAWP in isoform 5.
VSP_030656
Alternative sequence721 – 78060Missing in isoform 2.
VSP_030657

Experimental info

Sequence conflict1651W → R in BAA91067. Ref.3
Sequence conflict8691K → E in BAB14457. Ref.3
Sequence conflict9831Q → L in BAB14457. Ref.3
Sequence conflict11051Q → E in AAH45609. Ref.4
Sequence conflict12681L → V in AAH45609. Ref.4

Sequences

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

Last modified January 15, 2008. Version 2.
Checksum: 44FE9CDFFFE6811E

FASTA1,298142,507
        10         20         30         40         50         60 
MKVVPEKNAV RILWGRERGA RAMGAQRLLQ ELVEDKTRWM KWEGKRVELP DSPRSTFLLA 

        70         80         90        100        110        120 
FSPDRTLLAS THVNHNIYIT EVKTGKCVHS LIGHRRTPWC VTFHPTISGL IASGCLDGEV 

       130        140        150        160        170        180 
RIWDLHGGSE SWFTDSNNAI ASLAFHPTAQ LLLIATANEI HFWDWSRREP FAVVKTASEM 

       190        200        210        220        230        240 
ERVRLVRFDP LGHYLLTAIV NPSNQQGDDE PEIPIDGTEL SHYRQRALLQ SQPVRRTPLL 

       250        260        270        280        290        300 
HNFLHMLSSR SSGIQVGEQS TVQDSATPSP PPPPPQPSTE RPRTSAYIRL RQRVSYPTAE 

       310        320        330        340        350        360 
CCQHLGILCL CSRCSGTRVP SLLPHQDSVP PASARATTPS FSFVQTEPFH PPEQASSTQQ 

       370        380        390        400        410        420 
DQGLLNRPSA FSTVQSSTAG NTLRNLSLGP TRRSLGGPLS SHPSRYHREI APGLTGSEWT 

       430        440        450        460        470        480 
RTVLSLNSRS EAESMPPPRT SASSVSLLSV LRQQEGGSQA SVYTSATEGR GFPASGLATE 

       490        500        510        520        530        540 
SDGGNGSSQN NSGSIRHELQ CDLRRFFLEY DRLQELDQSL SGEAPQTQQA QEMLNNNIES 

       550        560        570        580        590        600 
ERPGPSHQPT PHSSENNSNL SRGHLNRCRA CHNLLTFNND TLRWERTTPN YSSGEASSSW 

       610        620        630        640        650        660 
QVPSSFESVP SSGSQLPPLE RTEGQTPSSS RLELSSSASP QEERTVGVAF NQETGHWERI 

       670        680        690        700        710        720 
YTQSSRSGTV SQEALHQDMP EESSEEDSLR RRLLESSLIS LSRYDGAGSR EHPIYPDPAR 

       730        740        750        760        770        780 
LSPAAYYAQR MIQYLSRRDS IRQRSMRYQQ NRLRSSTSSS SSDNQGPSVE GTDLEFEDFE 

       790        800        810        820        830        840 
DNGDRSRHRA PRNARMSAPS LGRFVPRRFL LPEYLPYAGI FHERGQPGLA THSSVNRVLA 

       850        860        870        880        890        900 
GAVIGDGQSA VASNIANTTY RLQWWDFTKF DLPEISNASV NVLVQNCKIY NDASCDISAD 

       910        920        930        940        950        960 
GQLLAAFIPS SQRGFPDEGI LAVYSLAPHN LGEMLYTKRF GPNAISVSLS PMGRYVMVGL 

       970        980        990       1000       1010       1020 
ASRRILLHPS TEHMVAQVFR LQQAHGGETS MRRVFNVLYP MPADQRRHVS INSARWLPEP 

      1030       1040       1050       1060       1070       1080 
GLGLAYGTNK GDLVICRPEA LNSGVEYYWD QLNETVFTVH SNSRSSERPG TSRATWRTDR 

      1090       1100       1110       1120       1130       1140 
DMGLMNAIGL QPRNPATSVT SQGTQTLALQ LQNAETQTER EVPEPGTAAS GPGEGEGSEY 

      1150       1160       1170       1180       1190       1200 
GASGEDALSR IQRLMAEGGM TAVVQREQST TMASMGGFGN NIIVSHRIHR SSQTGTEPGA 

      1210       1220       1230       1240       1250       1260 
AHTSSPQPST SRGLLPEAGQ LAERGLSPRT ASWDQPGTPG REPTQPTLPS SSPVPIPVSL 

      1270       1280       1290 
PSAEGPTLHC ELTNNNHLLD GGSSRGDAAG PRGEPRNR 

« Hide

Isoform 2 [UniParc].

Checksum: EE24A481D1388999
Show »

1,238135,528
Isoform 3 [UniParc].

Checksum: C9902123C4EE6199
Show »

1,269139,269
Isoform 4 [UniParc].

Checksum: 3BA3D281C30318F1
Show »

1,208132,837
Isoform 5 [UniParc].

Checksum: 0EF81F37DFCA142D
Show »

1,301142,585

References

[1]"Ambra1 regulates autophagy and development of the nervous system."
Maria Fimia G., Stoykova A., Romagnoli A., Giunta L., Di Bartolomeo S., Nardacci R., Corazzari M., Fuoco C., Ucar A., Schwartz P., Gruss P., Piacentini M., Chowdhury K., Cecconi F.
Nature 447:1121-1125(2007) [PubMed: 17589504] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Brain.
[2]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-1298.
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Testis.

Cross-references

Sequence databases

DQ870924 mRNA. Translation: ABI74670.1.
AB051523 mRNA. Translation: BAB21827.1. Different initiation.
AK000301 mRNA. Translation: BAA91067.1. Frameshift.
AK023197 mRNA. Translation: BAB14457.1. Different initiation.
BC045609 mRNA. Translation: AAH45609.1.
RefSeqNP_060219.2.
UniGeneHs.654644

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ9C0C7.

Genome annotation databases

EnsemblENSG00000110497. Homo sapiens. [Contig view]
GeneID55626.
KEGGhsa:55626.

Organism-specific databases

HGNCHGNC:25990. AMBRA1.
HPACAB017825.
MIM611359. gene.
HUGESearch...
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ9C0C7.
HOVERGENQ9C0C7.

Gene expression databases

ArrayExpressQ9C0C7.
CleanExHS_AMBRA1.

Family and domain databases

InterProIPR015943. WD40/YVTN_repeat-like.
IPR001680. WD40_repeat.
[Graphical view]
Gene3DG3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
PfamPF00400. WD40. 1 hit.
[Graphical view]
ProDomPD000018. WD40. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00320. WD40. 3 hits.
[Graphical view]
PROSITEPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
BLOCKSSearch...
ProtoNetSearch...

Other Resources

NextBio60248.
SOURCESearch...

Entry information

Entry nameAMRA1_HUMAN
AccessionPrimary (citable) accession number: Q9C0C7
Secondary accession number(s): A6XN33 expand/collapse secondary AC list , Q86XD6, Q9H8Z0, Q9NXE7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 4, 2008
This is version 44 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

MIM cross-references

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents