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UniProtKB - Q9C0C7 (AMRA1_HUMAN)

Entry version 148 (13 Nov 2019)
Sequence version 2 (15 Jan 2008)
Previous versions | rss
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Protein

Activating molecule in BECN1-regulated autophagy protein 1

Gene

AMBRA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processAutophagy, Differentiation, Neurogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1632852 Macroautophagy

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9C0C7

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9C0C7

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Activating molecule in BECN1-regulated autophagy protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMBRA1
Synonyms:KIAA1736
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25990 AMBRA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611359 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9C0C7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		55626

Open Targets

More...OpenTargetsi		ENSG00000110497

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162376307

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9C0C7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AMBRA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		166215833

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003157031 – 1298Activating molecule in BECN1-regulated autophagy protein 1Add BLAST1298

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei328PhosphoserineCombined sources1
Modified residuei394PhosphoserineCombined sources1
Modified residuei443PhosphoserineCombined sources1
Modified residuei635PhosphoserineCombined sources1
Modified residuei639PhosphoserineCombined sources1
Modified residuei747Asymmetric dimethylarginineBy similarity1
Modified residuei1205PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9C0C7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9C0C7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9C0C7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9C0C7

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9C0C7

PeptideAtlas

More...PeptideAtlasi		Q9C0C7

PRoteomics IDEntifications database

More...PRIDEi		Q9C0C7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		32296
79999 [Q9C0C7-1]
80000 [Q9C0C7-2]
80001 [Q9C0C7-3]
80002 [Q9C0C7-4]
80003 [Q9C0C7-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9C0C7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9C0C7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000110497 Expressed in 229 organ(s), highest expression level in oocyte

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9C0C7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9C0C7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB017825
HPA038535

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

Interacts with BECN2.

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120765, 212 interactors

Database of interacting proteins

More...DIPi		DIP-53597N

Protein interaction database and analysis system

More...IntActi		Q9C0C7, 46 interactors

Molecular INTeraction database

More...MINTi		Q9C0C7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000431926

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati51 – 90WD 1Add BLAST40
Repeati93 – 133WD 2Add BLAST41
Repeati135 – 175WD 3Add BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi268 – 277Poly-Pro10
Compositional biasi592 – 639Ser-richAdd BLAST48

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IQ11 Eukaryota
ENOG410ZUDQ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000016223

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033925

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9C0C7

KEGG Orthology (KO)

More...KOi		K17985

Identification of Orthologs from Complete Genome Data

More...OMAi		PPAECCQ

Database of Orthologous Groups

More...OrthoDBi		488527at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9C0C7

TreeFam database of animal gene trees

More...TreeFami		TF328981

Family and domain databases

Database of protein disorder

More...DisProti		DP01328

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320 WD40, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0C7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MKVVPEKNAV RILWGRERGA RAMGAQRLLQ ELVEDKTRWM KWEGKRVELP 
        60         70         80         90        100
DSPRSTFLLA FSPDRTLLAS THVNHNIYIT EVKTGKCVHS LIGHRRTPWC 
       110        120        130        140        150
VTFHPTISGL IASGCLDGEV RIWDLHGGSE SWFTDSNNAI ASLAFHPTAQ 
       160        170        180        190        200
LLLIATANEI HFWDWSRREP FAVVKTASEM ERVRLVRFDP LGHYLLTAIV 
       210        220        230        240        250
NPSNQQGDDE PEIPIDGTEL SHYRQRALLQ SQPVRRTPLL HNFLHMLSSR 
       260        270        280        290        300
SSGIQVGEQS TVQDSATPSP PPPPPQPSTE RPRTSAYIRL RQRVSYPTAE 
       310        320        330        340        350
CCQHLGILCL CSRCSGTRVP SLLPHQDSVP PASARATTPS FSFVQTEPFH 
       360        370        380        390        400
PPEQASSTQQ DQGLLNRPSA FSTVQSSTAG NTLRNLSLGP TRRSLGGPLS 
       410        420        430        440        450
SHPSRYHREI APGLTGSEWT RTVLSLNSRS EAESMPPPRT SASSVSLLSV 
       460        470        480        490        500
LRQQEGGSQA SVYTSATEGR GFPASGLATE SDGGNGSSQN NSGSIRHELQ 
       510        520        530        540        550
CDLRRFFLEY DRLQELDQSL SGEAPQTQQA QEMLNNNIES ERPGPSHQPT 
       560        570        580        590        600
PHSSENNSNL SRGHLNRCRA CHNLLTFNND TLRWERTTPN YSSGEASSSW 
       610        620        630        640        650
QVPSSFESVP SSGSQLPPLE RTEGQTPSSS RLELSSSASP QEERTVGVAF 
       660        670        680        690        700
NQETGHWERI YTQSSRSGTV SQEALHQDMP EESSEEDSLR RRLLESSLIS 
       710        720        730        740        750
LSRYDGAGSR EHPIYPDPAR LSPAAYYAQR MIQYLSRRDS IRQRSMRYQQ 
       760        770        780        790        800
NRLRSSTSSS SSDNQGPSVE GTDLEFEDFE DNGDRSRHRA PRNARMSAPS 
       810        820        830        840        850
LGRFVPRRFL LPEYLPYAGI FHERGQPGLA THSSVNRVLA GAVIGDGQSA 
       860        870        880        890        900
VASNIANTTY RLQWWDFTKF DLPEISNASV NVLVQNCKIY NDASCDISAD 
       910        920        930        940        950
GQLLAAFIPS SQRGFPDEGI LAVYSLAPHN LGEMLYTKRF GPNAISVSLS 
       960        970        980        990       1000
PMGRYVMVGL ASRRILLHPS TEHMVAQVFR LQQAHGGETS MRRVFNVLYP 
      1010       1020       1030       1040       1050
MPADQRRHVS INSARWLPEP GLGLAYGTNK GDLVICRPEA LNSGVEYYWD 
      1060       1070       1080       1090       1100
QLNETVFTVH SNSRSSERPG TSRATWRTDR DMGLMNAIGL QPRNPATSVT 
      1110       1120       1130       1140       1150
SQGTQTLALQ LQNAETQTER EVPEPGTAAS GPGEGEGSEY GASGEDALSR 
      1160       1170       1180       1190       1200
IQRLMAEGGM TAVVQREQST TMASMGGFGN NIIVSHRIHR SSQTGTEPGA 
      1210       1220       1230       1240       1250
AHTSSPQPST SRGLLPEAGQ LAERGLSPRT ASWDQPGTPG REPTQPTLPS 
      1260       1270       1280       1290 
SSPVPIPVSL PSAEGPTLHC ELTNNNHLLD GGSSRGDAAG PRGEPRNR
Length:1,298
Mass (Da):142,507
Last modified:January 15, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i44FE9CDFFFE6811E
GO
Isoform 2 (identifier: Q9C0C7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     721-780: Missing.

Show »
Length:1,238
Mass (Da):135,528
Checksum:iEE24A481D1388999
GO
Isoform 3 (identifier: Q9C0C7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     691-719: Missing.

Show »
Length:1,269
Mass (Da):139,269
Checksum:iC9902123C4EE6199
GO
Isoform 4 (identifier: Q9C0C7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.

Show »
Length:1,208
Mass (Da):132,837
Checksum:i3BA3D281C30318F1
GO
Isoform 5 (identifier: Q9C0C7-5) [UniParc]FASTAAdd to basket

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

Show »
Length:1,301
Mass (Da):142,585
Checksum:i0EF81F37DFCA142D
GO
Isoform 6 (identifier: Q9C0C7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.
     691-719: Missing.
     864-880: WWDFTKFDLPEISNASV → GGGTSLSLTSLKSVMLP
     881-1298: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:761
Mass (Da):84,428
Checksum:i4512BD3DCDD64FE1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B6T1A0A075B6T1_HUMAN
Activating molecule in BECN1-regula...
AMBRA1
1,179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YE34H0YE34_HUMAN
Activating molecule in BECN1-regula...
AMBRA1
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PL55E9PL55_HUMAN
Activating molecule in BECN1-regula...
AMBRA1
24Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Isoform 6 : The sequence AL834190 differs from that shown. Reason: Frameshift.Curated
The sequence BAA91067 differs from that shown. Reason: Frameshift.Curated
The sequence BAB14457 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB21827 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti165W → R in BAA91067 (PubMed:14702039).Curated1
Sequence conflicti793N → K in AL834190 (PubMed:17974005).Curated1
Sequence conflicti869K → E in BAB14457 (PubMed:14702039).Curated1
Sequence conflicti983Q → L in BAB14457 (PubMed:14702039).Curated1
Sequence conflicti1105Q → E in AAH45609 (PubMed:15489334).Curated1
Sequence conflicti1268L → V in AAH45609 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_030654255 – 344Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST90
Alternative sequenceiVSP_030655691 – 719Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_030656691R → RRSLALSPRLEYSGAILAHC KLRLPGSCHSPASASQVAGT TGAHHHARLIFAFLVEMEFH HVSQAGLELLTSGDLPTSAS QSAGITGVSHRAWP in isoform 5. 1 Publication1
Alternative sequenceiVSP_030657721 – 780Missing in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_045989864 – 880WWDFT…SNASV → GGGTSLSLTSLKSVMLP in isoform 6. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_045990881 – 1298Missing in isoform 6. 1 PublicationAdd BLAST418

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
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.
AL834190 mRNA No translation available.
AC024293 Genomic DNA No translation available.
AC115097 Genomic DNA No translation available.
AC116021 Genomic DNA No translation available.
AC127035 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW67996.1
CH471064 Genomic DNA Translation: EAW67999.1
CH471064 Genomic DNA Translation: EAW68001.1
BC045609 mRNA Translation: AAH45609.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31475.1 [Q9C0C7-4]
CCDS73281.1 [Q9C0C7-2]

NCBI Reference Sequences

More...RefSeqi		NP_001254711.1, NM_001267782.1 [Q9C0C7-5]
NP_001254712.1, NM_001267783.1
NP_001287660.1, NM_001300731.1 [Q9C0C7-2]
NP_060219.2, NM_017749.3 [Q9C0C7-4]
XP_005253066.1, XM_005253009.3 [Q9C0C7-1]
XP_005253068.1, XM_005253011.3 [Q9C0C7-3]
XP_005253071.1, XM_005253014.3
XP_006718322.1, XM_006718259.2 [Q9C0C7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000314845; ENSP00000318313; ENSG00000110497 [Q9C0C7-4]
ENST00000458649; ENSP00000415327; ENSG00000110497 [Q9C0C7-1]
ENST00000528950; ENSP00000433945; ENSG00000110497 [Q9C0C7-3]
ENST00000534300; ENSP00000431926; ENSG00000110497 [Q9C0C7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55626

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55626

UCSC genome browser

More...UCSCi		uc001ncu.3 human [Q9C0C7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AL834190 mRNA No translation available.
AC024293 Genomic DNA No translation available.
AC115097 Genomic DNA No translation available.
AC116021 Genomic DNA No translation available.
AC127035 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW67996.1
CH471064 Genomic DNA Translation: EAW67999.1
CH471064 Genomic DNA Translation: EAW68001.1
BC045609 mRNA Translation: AAH45609.1
CCDSiCCDS31475.1 [Q9C0C7-4]
CCDS73281.1 [Q9C0C7-2]
RefSeqiNP_001254711.1, NM_001267782.1 [Q9C0C7-5]
NP_001254712.1, NM_001267783.1
NP_001287660.1, NM_001300731.1 [Q9C0C7-2]
NP_060219.2, NM_017749.3 [Q9C0C7-4]
XP_005253066.1, XM_005253009.3 [Q9C0C7-1]
XP_005253068.1, XM_005253011.3 [Q9C0C7-3]
XP_005253071.1, XM_005253014.3
XP_006718322.1, XM_006718259.2 [Q9C0C7-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi120765, 212 interactors
DIPiDIP-53597N
IntActiQ9C0C7, 46 interactors
MINTiQ9C0C7
STRINGi9606.ENSP00000431926

PTM databases

iPTMnetiQ9C0C7
PhosphoSitePlusiQ9C0C7

Polymorphism and mutation databases

BioMutaiAMBRA1
DMDMi166215833

Proteomic databases

EPDiQ9C0C7
jPOSTiQ9C0C7
MassIVEiQ9C0C7
MaxQBiQ9C0C7
PaxDbiQ9C0C7
PeptideAtlasiQ9C0C7
PRIDEiQ9C0C7
ProteomicsDBi32296
79999 [Q9C0C7-1]
80000 [Q9C0C7-2]
80001 [Q9C0C7-3]
80002 [Q9C0C7-4]
80003 [Q9C0C7-5]

Genome annotation databases

EnsembliENST00000314845; ENSP00000318313; ENSG00000110497 [Q9C0C7-4]
ENST00000458649; ENSP00000415327; ENSG00000110497 [Q9C0C7-1]
ENST00000528950; ENSP00000433945; ENSG00000110497 [Q9C0C7-3]
ENST00000534300; ENSP00000431926; ENSG00000110497 [Q9C0C7-2]
GeneIDi55626
KEGGihsa:55626
UCSCiuc001ncu.3 human [Q9C0C7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55626
DisGeNETi55626

GeneCards: human genes, protein and diseases

More...GeneCardsi		AMBRA1
HGNCiHGNC:25990 AMBRA1
HPAiCAB017825
HPA038535
MIMi611359 gene
neXtProtiNX_Q9C0C7
OpenTargetsiENSG00000110497
PharmGKBiPA162376307

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IQ11 Eukaryota
ENOG410ZUDQ LUCA
GeneTreeiENSGT00390000016223
HOGENOMiHOG000033925
InParanoidiQ9C0C7
KOiK17985
OMAiPPAECCQ
OrthoDBi488527at2759
PhylomeDBiQ9C0C7
TreeFamiTF328981

Enzyme and pathway databases

ReactomeiR-HSA-1632852 Macroautophagy
SignaLinkiQ9C0C7
SIGNORiQ9C0C7

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		AMBRA1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55626
PharosiQ9C0C7

Protein Ontology

More...PROi		PR:Q9C0C7

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000110497 Expressed in 229 organ(s), highest expression level in oocyte
ExpressionAtlasiQ9C0C7 baseline and differential
GenevisibleiQ9C0C7 HS

Family and domain databases

DisProtiDP01328
Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 3 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMRA1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9C0C7
Secondary accession number(s): A6XN33
, D3DQP8, G3V193, Q86XD6, Q9H8Z0, Q9NXE7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 13, 2019
This is version 148 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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