Reviewed,
UniProtKB/Swiss-Prot O75129 (ASTN2_HUMAN)
Last modified
November 24, 2009.
Version 60.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Astrotactin-2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1339 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Sequence similarities | Belongs to the astrotactin family. Contains 3 EGF-like domains. Contains 1 fibronectin type-III domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | EGF-like domain Repeat Signal Transmembrane |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O75129-1) 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: O75129-2) The sequence of this isoform differs from the canonical sequence as follows: 339-389: Missing. | ||||||
| Isoform 3 (identifier: O75129-3) The sequence of this isoform differs from the canonical sequence as follows: 584-587: Missing. | ||||||
| Isoform 4 (identifier: O75129-4) The sequence of this isoform differs from the canonical sequence as follows: 1-899: Missing. 900-935: YGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQK → MNTLLCKGMFCLLSWEADSRGRLGEYTLQPLSLQTE | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: O75129-6) The sequence of this isoform differs from the canonical sequence as follows: 1-948: Missing. 1334-1339: GESKGR → YLTLSKVSPF |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 49 | 49 | Potential | ||||||||
| Chain | 50 – 1339 | 1290 | Astrotactin-2 | PRO_0000308252 | |||||||
Regions | |||||||||||
| Topological domain | 50 – 206 | 157 | Extracellular Potential | ||||||||
| Transmembrane | 207 – 227 | 21 | Potential | ||||||||
| Topological domain | 228 – 434 | 207 | Cytoplasmic Potential | ||||||||
| Transmembrane | 435 – 455 | 21 | Potential | ||||||||
| Topological domain | 456 – 1339 | 884 | Extracellular Potential | ||||||||
| Domain | 510 – 550 | 41 | EGF-like 1 | ||||||||
| Domain | 651 – 695 | 45 | EGF-like 2 | ||||||||
| Domain | 699 – 751 | 53 | EGF-like 3 | ||||||||
| Domain | 1065 – 1188 | 124 | Fibronectin type-III | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 168 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 783 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1020 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 514 ↔ 526 | By similarity | |||||||||
| Disulfide bond | 522 ↔ 533 | By similarity | |||||||||
| Disulfide bond | 535 ↔ 549 | By similarity | |||||||||
| Disulfide bond | 655 ↔ 668 | By similarity | |||||||||
| Disulfide bond | 662 ↔ 679 | By similarity | |||||||||
| Disulfide bond | 681 ↔ 694 | By similarity | |||||||||
| Disulfide bond | 703 ↔ 715 | By similarity | |||||||||
| Disulfide bond | 711 ↔ 735 | By similarity | |||||||||
| Disulfide bond | 737 ↔ 750 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 948 | 948 | Missing in isoform 6. | VSP_028930 | |||||||
| Alternative sequence | 1 – 899 | 899 | Missing in isoform 4. | VSP_028931 | |||||||
| Alternative sequence | 339 – 389 | 51 | Missing in isoform 2. | VSP_028932 | |||||||
| Alternative sequence | 584 – 587 | 4 | Missing in isoform 3. | VSP_028933 | |||||||
| Alternative sequence | 900 – 935 | 36 | YGSHY…LQYQK → MNTLLCKGMFCLLSWEADSR GRLGEYTLQPLSLQTE in isoform 4. | VSP_028934 | |||||||
| Alternative sequence | 1334 – 1339 | 6 | GESKGR → YLTLSKVSPF in isoform 6. | VSP_028937 | |||||||
| Natural variant | 70 | 1 | V → I: dbSNP rs16933591. | VAR_036765 | |||||||
| Natural variant | 865 | 1 | R → H: dbSNP rs3818503. | VAR_036766 | |||||||
| Natural variant | 1149 | 1 | V → I: dbSNP rs16933591. | VAR_036767 | |||||||
| Natural variant | 1293 | 1 | V → L in a breast cancer sample; somatic mutation. Ref.6 | VAR_036768 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 1320 | 1 | T → M in AAH29272. Ref.3 | ||||||||
Sequences
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References
| [1] | "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [2] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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] (ISOFORMS 2; 4 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 532-1339 (ISOFORM 3). Tissue: Brain, Cervix and Eye. |
| [4] | "Molecular cloning of human astrotactin-2." Tomoda T. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 227-1339 (ISOFORM 2). Tissue: Uterus. |
| [5] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 274-470 (ISOFORM 1). |
| [6] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-1293. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AB014534 mRNA. Translation: BAA31609.1. Different initiation. AL133284, AL133282, AL137024 Genomic DNA. Translation: CAM22874.1. AL133284 AL392085 Genomic DNA. Translation: CAI16371.1. AL358792 AL392085 Genomic DNA. Translation: CAH71966.1. AL157829 AL392085 Genomic DNA. Translation: CAH72264.1. AL133284 Genomic DNA. Translation: CAI16369.1. AL133284, AL133282, AL137024 Genomic DNA. Translation: CAI16370.1. AL133282 AL392085 Genomic DNA. Translation: CAI39864.1. AL133282, AL133284, AL137024 Genomic DNA. Translation: CAM15245.1. 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. | |
| IPI | IPI00297431. IPI00305238. IPI00377077. IPI00377078. IPI00413773. IPI00514125. |
| PIR | T00382. |
| RefSeq | NP_054729.3. NP_937829.2. NP_937830.2. NP_937831.1. |
| UniGene | Hs.601562 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | O75129. |
Proteomic databases | |
| PRIDE | O75129. |
Genome annotation databases | |
| Ensembl | ENST00000313400; ENSP00000314038; ENSG00000148219; Homo sapiens. [Genome view] ENST00000361209; ENSP00000354504; ENSG00000148219; Homo sapiens. [Genome view] |
| GeneID | 23245. |
| KEGG | hsa:23245. |
| UCSC | uc004bjp.1. human. uc004bjq.1. human. uc004bjs.1. human. uc004bjv.1. human. |
Organism-specific databases | |
| CTD | 23245. |
| GeneCards | GC09M118227. |
| HGNC | HGNC:17021. ASTN2. |
| HPA | HPA027035. |
| PharmGKB | PA25076. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O75129. |
| OMA | VDSSGCV |
| OrthoDB | EOG9F4VWH |
Gene expression databases | |
| ArrayExpress | O75129. |
| Bgee | O75129. |
| CleanEx | HS_ASTN2. |
| Genevestigator | O75129. |
Family and domain databases | |
| InterPro | IPR008957. Fibronectin_typ-III-like_fold. IPR003961. FN_III. IPR020865. MACPF_met. [Graphical view] |
| Pfam | PF00041. fn3. 1 hit. [Graphical view] |
| SMART | SM00060. FN3. 1 hit. SM00457. MACPF. 1 hit. [Graphical view] |
| PROSITE | PS00022. EGF_1. False negative. PS01186. EGF_2. False negative. PS50026. EGF_3. False negative. PS50853. FN3. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 44924. |
Entry information
| Entry name | ASTN2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75129 Secondary accession number(s): A2A2T7 Q9UHW6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with


