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Entry version 137 (13 Feb 2019)
Sequence version 2 (23 Oct 2007)
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Protein

Astrotactin-2

Gene

ASTN2

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

Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref. 6).By similarity1 Publication

<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

GO - Biological processi

<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

Biological processProtein transport, Transport
LigandCalcium, Metal-binding

<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:
Astrotactin-2
<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:ASTN2
Synonyms:KIAA0634
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000148219.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17021 ASTN2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612856 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75129

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini50 – 206LumenalCuratedAdd BLAST157
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei207 – 227HelicalSequence analysisAdd BLAST21
Topological domaini228 – 434CytoplasmicSequence analysisAdd BLAST207
Transmembranei435 – 455HelicalSequence analysisAdd BLAST21
Topological domaini456 – 1339LumenalCuratedAdd BLAST884

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome, Membrane

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1175R → T: Abolishes inositol-4,5-bisphosphate binding. Strongly reduces affinity for inositol-3,4,5-trisphosphate. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
23245

Open Targets

More...
OpenTargetsi
ENSG00000148219

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25076

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASTN2

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 49Sequence analysisAdd BLAST49
<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_000030825250 – 1339Astrotactin-2Add BLAST1290

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi168N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi514 ↔ 526By similarity
Disulfide bondi522 ↔ 533By similarity
Disulfide bondi535 ↔ 549By similarity
Disulfide bondi655 ↔ 668By similarity
Disulfide bondi662 ↔ 679By similarity
Disulfide bondi681 ↔ 694By similarity
Disulfide bondi703 ↔ 715By similarity
Disulfide bondi711 ↔ 735By similarity
Disulfide bondi737 ↔ 750By similarity
Glycosylationi770N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi783N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi825 ↔ 9871 Publication
Disulfide bondi916 ↔ 9771 Publication
Disulfide bondi983 ↔ 9901 Publication
Glycosylationi1020N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1036 ↔ 10471 Publication
Disulfide bondi1049 ↔ 10621 Publication
Disulfide bondi1136 ↔ 11581 Publication
Disulfide bondi1190 ↔ 12771 Publication
Disulfide bondi1298 ↔ 13211 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O75129

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

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PaxDbi
O75129

PeptideAtlas

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PeptideAtlasi
O75129

PRoteomics IDEntifications database

More...
PRIDEi
O75129

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49788
49789 [O75129-2]
49790 [O75129-3]
49791 [O75129-4]
49792 [O75129-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75129

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

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PhosphoSitePlusi
O75129

<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

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Bgeei
ENSG00000148219 Expressed in 188 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75129 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75129 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA027035

<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 ASTN1; the interaction is not calcium-dependent.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116849, 4 interactors

Protein interaction database and analysis system

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IntActi
O75129, 1 interactor

Molecular INTeraction database

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MINTi
O75129

STRING: functional protein association networks

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STRINGi
9606.ENSP00000354504

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J67X-ray3.16A/B/C/D768-1339[»]
5J68X-ray5.22A768-1339[»]
5J69X-ray3.63A/B768-1033[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75129

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75129

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini510 – 550EGF-like 1Add BLAST41
Domaini651 – 695EGF-like 2Add BLAST45
Domaini699 – 751EGF-like 3Add BLAST53
Domaini1065 – 1188Fibronectin type-IIIAdd BLAST124

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal region after the fibronectin type-III domain presents structural similarity to annexin domains and binds calcium ions.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the astrotactin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHIU Eukaryota
ENOG4110VB2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003140

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050597

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75129

Identification of Orthologs from Complete Genome Data

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OMAi
KHLCVRS

Database of Orthologous Groups

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OrthoDBi
39300at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75129

TreeFam database of animal gene trees

More...
TreeFami
TF332034

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR040510 ASTN_2_hairpin
IPR026995 Astrotactin
IPR036116 FN3_sf
IPR020864 MACPF

The PANTHER Classification System

More...
PANTHERi
PTHR16592 PTHR16592, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18577 ASTN_2_hairpin, 1 hit
PF01823 MACPF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00457 MACPF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49265 SSF49265, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75129-1) [UniParc]FASTAAdd to basket

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
MAAAGARLSP GPGSGLRGRP RLCFHPGPPP LLPLLLLFLL LLPPPPLLAG
60 70 80 90 100
ATAAASREPD SPCRLKTVTV STLPALRESD IGWSGARAGA GAGTGAGAAA
110 120 130 140 150
AAASPGSPGS AGTAAESRLL LFVRNELPGR IAVQDDLDNT ELPFFTLEMS
160 170 180 190 200
GTAADISLVH WRQQWLENGT LYFHVSMSSS GQLAQATAPT LQEPSEIVEE
210 220 230 240 250
QMHILHISVM GGLIALLLLL LVFTVALYAQ RRWQKRRRIP QKSASTEATH
260 270 280 290 300
EIHYIPSVLL GPQARESFRS SRLQTHNSVI GVPIRETPIL DDYDCEEDEE
310 320 330 340 350
PPRRANHVSR EDEFGSQVTH TLDSLGHPGE EKVDFEKKAA AEATQETVES
360 370 380 390 400
LMQKFKESFR ANTPIEIGQL QPPLRSTSAG KRKRRSKSRG GISFGRAKGT
410 420 430 440 450
SGSEADDETQ LTFYTEQYRS RRRSKGLLKS PVNKTALTLI AVSSCILAMV
460 470 480 490 500
CGSQMSCPLT VKVTLHVPEH FIADGSSFVV SEGSYLDISD WLNPAKLSLY
510 520 530 540 550
YQINATSPWV RDLCGQRTTD ACEQLCDPET GECSCHEGYA PDPVHRHLCV
560 570 580 590 600
RSDWGQSEGP WPYTTLERGY DLVTGEQAPE KILRSTFSLG QGLWLPVSKS
610 620 630 640 650
FVVPPVELSI NPLASCKTDV LVTEDPADVR EEAMLSTYFE TINDLLSSFG
660 670 680 690 700
PVRDCSRNNG GCTRNFKCVS DRQVDSSGCV CPEELKPMKD GSGCYDHSKG
710 720 730 740 750
IDCSDGFNGG CEQLCLQQTL PLPYDATSST IFMFCGCVEE YKLAPDGKSC
760 770 780 790 800
LMLSDVCEGP KCLKPDSKFN DTLFGEMLHG YNNRTQHVNQ GQVFQMTFRE
810 820 830 840 850
NNFIKDFPQL ADGLLVIPLP VEEQCRGVLS EPLPDLQLLT GDIRYDEAMG
860 870 880 890 900
YPMVQQWRVR SNLYRVKLST ITLAAGFTNV LKILTKESSR EELLSFIQHY
910 920 930 940 950
GSHYIAEALY GSELTCIIHF PSKKVQQQLW LQYQKETTEL GSKKELKSMP
960 970 980 990 1000
FITYLSGLLT AQMLSDDQLI SGVEIRCEEK GRCPSTCHLC RRPGKEQLSP
1010 1020 1030 1040 1050
TPVLLEINRV VPLYTLIQDN GTKEAFKSAL MSSYWCSGKG DVIDDWCRCD
1060 1070 1080 1090 1100
LSAFDANGLP NCSPLLQPVL RLSPTVEPSS TVVSLEWVDV QPAIGTKVSD
1110 1120 1130 1140 1150
YILQHKKVDE YTDTDLYTGE FLSFADDLLS GLGTSCVAAG RSHGEVPEVS
1160 1170 1180 1190 1200
IYSVIFKCLE PDGLYKFTLY AVDTRGRHSE LSTVTLRTAC PLVDDNKAEE
1210 1220 1230 1240 1250
IADKIYNLYN GYTSGKEQQM AYNTLMEVSA SMLFRVQHHY NSHYEKFGDF
1260 1270 1280 1290 1300
VWRSEDELGP RKAHLILRRL ERVSSHCSSL LRSAYIQSRV ETVPYLFCRS
1310 1320 1330
EEVRPAGMVW YSILKDTKIT CEEKMVSMAR NTYGESKGR
Length:1,339
Mass (Da):148,243
Last modified:October 23, 2007 - 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:i7B914F1A736F798F
GO
Isoform 2 (identifier: O75129-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     339-389: Missing.

Show »
Length:1,288
Mass (Da):142,544
Checksum:i7136F3D8ACFE0733
GO
Isoform 3 (identifier: O75129-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     584-587: Missing.

Show »
Length:1,335
Mass (Da):147,752
Checksum:i598978297C7DC986
GO
Isoform 4 (identifier: O75129-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-899: Missing.
     900-935: YGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQK → MNTLLCKGMFCLLSWEADSRGRLGEYTLQPLSLQTE

Note: No experimental confirmation available.
Show »
Length:440
Mass (Da):49,558
Checksum:iCAF4E32F3DFBA9DA
GO
Isoform 6 (identifier: O75129-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-948: Missing.
     1334-1339: GESKGR → YLTLSKVSPF

Show »
Length:395
Mass (Da):44,561
Checksum:i54514BC7B749E4B8
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3A8H0Y3A8_HUMAN
Astrotactin-2
ASTN2
1,062Annotation 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>
B7ZKP5B7ZKP5_HUMAN
ASTN2 protein
ASTN2
402Annotation 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>
X6R5P2X6R5P2_HUMAN
Astrotactin-2
ASTN2
194Annotation 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>
H7C3I6H7C3I6_HUMAN
Astrotactin-2
ASTN2
98Annotation 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

The sequence AAF14357 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA31609 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti1320T → M in AAH29272 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03676570V → I. Corresponds to variant dbSNP:rs16933591Ensembl.1
Natural variantiVAR_064699229A → V Found in a clear cell renal carcinoma case; somatic mutation. 1 Publication1
Natural variantiVAR_036766865R → H. Corresponds to variant dbSNP:rs3818503Ensembl.1
Natural variantiVAR_0367671149V → I. Corresponds to variant dbSNP:rs16933591Ensembl.1
Natural variantiVAR_0367681293V → L in a breast cancer sample; somatic mutation. 1 Publication1

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_0289301 – 948Missing in isoform 6. 1 PublicationAdd BLAST948
Alternative sequenceiVSP_0289311 – 899Missing in isoform 4. 1 PublicationAdd BLAST899
Alternative sequenceiVSP_028932339 – 389Missing in isoform 2. 3 PublicationsAdd BLAST51
Alternative sequenceiVSP_028933584 – 587Missing in isoform 3. 1 Publication4
Alternative sequenceiVSP_028934900 – 935YGSHY…LQYQK → MNTLLCKGMFCLLSWEADSR GRLGEYTLQPLSLQTE in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_0289371334 – 1339GESKGR → YLTLSKVSPF in isoform 6. 1 Publication6

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB014534 mRNA Translation: BAA31609.1 Different initiation.
AL133282 Genomic DNA No translation available.
AL133284 Genomic DNA No translation available.
AL137024 Genomic DNA No translation available.
AL157829 Genomic DNA No translation available.
AL354981 Genomic DNA No translation available.
AL355608 Genomic DNA No translation available.
AL358792 Genomic DNA No translation available.
AL392085 Genomic DNA No translation available.
BC018759 mRNA Translation: AAH18759.2
BC029272 mRNA Translation: AAH29272.1
BC093835 mRNA Translation: AAH93835.2
BC101667 mRNA Translation: AAI01668.1
BC146756 mRNA Translation: AAI46757.1
AF116574 mRNA Translation: AAF14357.1 Different initiation.
DA336442 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS48009.2 [O75129-4]
CCDS6814.1 [O75129-6]
CCDS6815.1 [O75129-2]

Protein sequence database of the Protein Information Resource

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PIRi
T00382

NCBI Reference Sequences

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RefSeqi
NP_054729.3, NM_014010.4 [O75129-2]
NP_937829.3, NM_198186.3 [O75129-4]
NP_937831.1, NM_198188.2 [O75129-6]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.601562

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000288520; ENSP00000288520; ENSG00000148219 [O75129-4]
ENST00000313400; ENSP00000314038; ENSG00000148219 [O75129-1]
ENST00000341734; ENSP00000339925; ENSG00000148219 [O75129-6]
ENST00000361209; ENSP00000354504; ENSG00000148219 [O75129-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23245

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23245

UCSC genome browser

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UCSCi
uc004bjp.3 human [O75129-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB014534 mRNA Translation: BAA31609.1 Different initiation.
AL133282 Genomic DNA No translation available.
AL133284 Genomic DNA No translation available.
AL137024 Genomic DNA No translation available.
AL157829 Genomic DNA No translation available.
AL354981 Genomic DNA No translation available.
AL355608 Genomic DNA No translation available.
AL358792 Genomic DNA No translation available.
AL392085 Genomic DNA No translation available.
BC018759 mRNA Translation: AAH18759.2
BC029272 mRNA Translation: AAH29272.1
BC093835 mRNA Translation: AAH93835.2
BC101667 mRNA Translation: AAI01668.1
BC146756 mRNA Translation: AAI46757.1
AF116574 mRNA Translation: AAF14357.1 Different initiation.
DA336442 mRNA No translation available.
CCDSiCCDS48009.2 [O75129-4]
CCDS6814.1 [O75129-6]
CCDS6815.1 [O75129-2]
PIRiT00382
RefSeqiNP_054729.3, NM_014010.4 [O75129-2]
NP_937829.3, NM_198186.3 [O75129-4]
NP_937831.1, NM_198188.2 [O75129-6]
UniGeneiHs.601562

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J67X-ray3.16A/B/C/D768-1339[»]
5J68X-ray5.22A768-1339[»]
5J69X-ray3.63A/B768-1033[»]
ProteinModelPortaliO75129
SMRiO75129
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116849, 4 interactors
IntActiO75129, 1 interactor
MINTiO75129
STRINGi9606.ENSP00000354504

PTM databases

iPTMnetiO75129
PhosphoSitePlusiO75129

Polymorphism and mutation databases

BioMutaiASTN2

Proteomic databases

jPOSTiO75129
PaxDbiO75129
PeptideAtlasiO75129
PRIDEiO75129
ProteomicsDBi49788
49789 [O75129-2]
49790 [O75129-3]
49791 [O75129-4]
49792 [O75129-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288520; ENSP00000288520; ENSG00000148219 [O75129-4]
ENST00000313400; ENSP00000314038; ENSG00000148219 [O75129-1]
ENST00000341734; ENSP00000339925; ENSG00000148219 [O75129-6]
ENST00000361209; ENSP00000354504; ENSG00000148219 [O75129-2]
GeneIDi23245
KEGGihsa:23245
UCSCiuc004bjp.3 human [O75129-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23245
DisGeNETi23245
EuPathDBiHostDB:ENSG00000148219.16

GeneCards: human genes, protein and diseases

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GeneCardsi
ASTN2
HGNCiHGNC:17021 ASTN2
HPAiHPA027035
MIMi612856 gene
neXtProtiNX_O75129
OpenTargetsiENSG00000148219
PharmGKBiPA25076

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHIU Eukaryota
ENOG4110VB2 LUCA
GeneTreeiENSGT00390000003140
HOVERGENiHBG050597
InParanoidiO75129
OMAiKHLCVRS
OrthoDBi39300at2759
PhylomeDBiO75129
TreeFamiTF332034

Miscellaneous databases

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

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ChiTaRSi
ASTN2 human

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

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GenomeRNAii
23245

Protein Ontology

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PROi
PR:O75129

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148219 Expressed in 188 organ(s), highest expression level in testis
ExpressionAtlasiO75129 baseline and differential
GenevisibleiO75129 HS

Family and domain databases

InterProiView protein in InterPro
IPR040510 ASTN_2_hairpin
IPR026995 Astrotactin
IPR036116 FN3_sf
IPR020864 MACPF
PANTHERiPTHR16592 PTHR16592, 1 hit
PfamiView protein in Pfam
PF18577 ASTN_2_hairpin, 1 hit
PF01823 MACPF, 1 hit
SMARTiView protein in SMART
SM00457 MACPF, 1 hit
SUPFAMiSSF49265 SSF49265, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiASTN2_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: O75129
Secondary accession number(s): A2A2T7
, A2A2T9, Q52LQ2, Q5JVX8, Q5JVX9, Q5JVY1, Q5VXG8, Q5VZX6, Q8N6P8, Q8WV47, Q96FL4, Q9UHW6
<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: October 23, 2007
Last sequence update: October 23, 2007
Last modified: February 13, 2019
This is version 137 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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