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O14525 (ASTN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

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

Names and origin

Protein namesRecommended name:
Astrotactin-1
Gene names
Name:ASTN1
Synonyms:ASTN, KIAA0289
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1302 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Neuronal adhesion molecule that is required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum and olfactory bulb.

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.

Sequence caution

The sequence BAA22958.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: O14525-1)

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.
Note: No experimental confirmation available.
Isoform 1 (identifier: O14525-2)

The sequence of this isoform differs from the canonical sequence as follows:
     480-487: Missing.
Isoform 3 (identifier: O14525-3)

The sequence of this isoform differs from the canonical sequence as follows:
     480-487: Missing.
     1225-1302: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 13021281Astrotactin-1
PRO_0000007481

Regions

Transmembrane154 – 17421Helical; Potential
Transmembrane384 – 40219Helical; Potential
Domain459 – 50749EGF-like 1
Domain608 – 65245EGF-like 2
Domain656 – 70853EGF-like 3
Domain1030 – 1145116Fibronectin type-III 1

Amino acid modifications

Glycosylation1151N-linked (GlcNAc...) Potential
Glycosylation2261N-linked (GlcNAc...) Potential
Glycosylation3821N-linked (GlcNAc...) Potential
Glycosylation4531N-linked (GlcNAc...) Potential
Glycosylation7291N-linked (GlcNAc...) Potential
Glycosylation7421N-linked (GlcNAc...) Potential
Glycosylation8041N-linked (GlcNAc...) Potential
Glycosylation9841N-linked (GlcNAc...) Potential
Disulfide bond463 ↔ 475 By similarity
Disulfide bond471 ↔ 490 By similarity
Disulfide bond492 ↔ 506 By similarity
Disulfide bond612 ↔ 625 By similarity
Disulfide bond619 ↔ 636 By similarity
Disulfide bond638 ↔ 651 By similarity
Disulfide bond660 ↔ 672 By similarity
Disulfide bond668 ↔ 692 By similarity
Disulfide bond694 ↔ 707 By similarity

Natural variations

Alternative sequence480 – 4878Missing in isoform 1 and isoform 3.
VSP_001371
Alternative sequence1225 – 130278Missing in isoform 3.
VSP_045069
Natural variant9321H → R. Ref.1 Ref.2 Ref.5
Corresponds to variant rs2228956 [ dbSNP | Ensembl ].
VAR_069030
Natural variant9421H → Q. Ref.1 Ref.2 Ref.5
Corresponds to variant rs2281180 [ dbSNP | Ensembl ].
VAR_069031
Natural variant12701G → R.
Corresponds to variant rs12118933 [ dbSNP | Ensembl ].
VAR_036764
Natural variant12781R → G.
Corresponds to variant rs12118933 [ dbSNP | Ensembl ].
VAR_055713

Experimental info

Sequence conflict4391D → E in BAG58151. Ref.2
Sequence conflict9941T → I in BAG58151. Ref.2
Isoform 3:
Sequence conflict12161R → RYQ in BAG58151. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified May 10, 2005. Version 3.
Checksum: CA9EDDA6621C4F3B

FASTA1,302144,913
        10         20         30         40         50         60 
MALAGLCALL ACCWGPAAVL ATAAGDVDPS KELECKLKSI TVSALPFLRE NDLSIMHSPS 

        70         80         90        100        110        120 
ASEPKLLFSV RNDFPGEMVV VDDLENTELP YFVLEISGNT EDIPLVRWRQ QWLENGTLLF 

       130        140        150        160        170        180 
HIHHQDGAPS LPGQDPTEEP QHESAEEELR ILHISVMGGM IALLLSILCL VMILYTRRRW 

       190        200        210        220        230        240 
CKRRRVPQPQ KSASAEAANE IHYIPSVLIG GHGRESLRNA RVQGHNSSGT LSIRETPILD 

       250        260        270        280        290        300 
GYEYDITDLR HHLQRECMNG GEDFASQVTR TLDSLQGCNE KSGMDLTPGS DNAKLSLMNK 

       310        320        330        340        350        360 
YKDNIIATSP VDSNHQQATL LSHTSSSQRK RINNKARAGS AFLNPEGDSG TEAENDPQLT 

       370        380        390        400        410        420 
FYTDPSRSRR RSRVGSPRSP VNKTTLTLIS ITSCVIGLVC SSHVNCPLVV KITLHVPEHL 

       430        440        450        460        470        480 
IADGSRFILL EGSQLDASDW LNPAQVVLFS QQNSSGPWAM DLCARRLLDP CEHQCDPETG 

       490        500        510        520        530        540 
RREHRAAGEC LCYEGYMKDP VHKHLCIRNE WGTNQGPWPY TIFQRGFDLV LGEQPSDKIF 

       550        560        570        580        590        600 
RFTYTLGEGM WLPLSKSFVI PPAELAINPS AKCKTDMTVM EDAVEVREEL MTSSSFDSLE 

       610        620        630        640        650        660 
VLLDSFGPVR DCSKDNGGCS KNFRCISDRK LDSTGCVCPS GLSPMKDSSG CYDRHIGVDC 

       670        680        690        700        710        720 
SDGFNGGCEQ LCLQQMAPFP DDPTLYNILM FCGCIEDYKL GVDGRSCQLI TETCPEGSDC 

       730        740        750        760        770        780 
GESRELPMNQ TLFGEMFFGY NNHSKEVAAG QVLKGTFRQN NFARGLDQQL PDGLVVATVP 

       790        800        810        820        830        840 
LENQCLEEIS EPTPDPDFLT GMVNFSEVSG YPVLQHWKVR SVMYHIKLNQ VAISQALSNA 

       850        860        870        880        890        900 
LHSLDGATSR ADFVALLDQF GNHYIQEAIY GFEESCSIWY PNKQVQRRLW LEYEDISKGN 

       910        920        930        940        950        960 
SPSDESEERE RDPKVLTFPE YITSLSDSGT KHMAAGVRME CHSKGRCPSS CPLCHVTSSP 

       970        980        990       1000       1010       1020 
DTPAEPVLLE VTKAAPIYEL VTNNQTQRLL QEATMSSLWC SGTGDVIEDW CRCDSTAFGA 

      1030       1040       1050       1060       1070       1080 
DGLPTCAPLP QPVLRLSTVH EPSSTLVVLE WEHSEPPIGV QIVDYLLRQE KVTDRMDHSK 

      1090       1100       1110       1120       1130       1140 
VETETVLSFV DDIISGAKSP CAMPSQVPDK QLTTISLIIR CLEPDTIYMF TLWGVDNTGR 

      1150       1160       1170       1180       1190       1200 
RSRPSDVIVK TPCPVVDDVK AQEIADKIYN LFNGYTSGKE QQTAYNTLLD LGSPTLHRVL 

      1210       1220       1230       1240       1250       1260 
YHYNQHYESF GEFTWRCEDE LGPRKAGLIL SQLGDLSSWC NGLLQEPKIS LRRSSLKYLG 

      1270       1280       1290       1300 
CRYSEIKPYG LDWAELSRDL RKTCEEQTLS IPYNDYGDSK EI 

« Hide

Isoform 1 [UniParc].

Checksum: C38F3B239708FC9A
Show »

FASTA1,294143,979
Isoform 3 [UniParc].

Checksum: 91B51202F5EF4EC7
Show »

FASTA1,216135,083

References

[1]"Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins."
Ohara O., Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Nomura N.
DNA Res. 4:53-59(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-932 AND GLN-942.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS ARG-932 AND GLN-942.
Tissue: Brain.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS ARG-932 AND GLN-942.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB006627 mRNA. Translation: BAA22958.1. Different initiation.
AK295126 mRNA. Translation: BAG58151.1.
AL136983 expand/collapse EMBL AC list , AL021398, AL022145, AL031290 Genomic DNA. Translation: CAH71678.1.
AL136983 expand/collapse EMBL AC list , AL021398, AL022145, AL031290 Genomic DNA. Translation: CAH71679.1.
AL021398 expand/collapse EMBL AC list , AL022145, AL136983, AL031290 Genomic DNA. Translation: CAI23463.1.
AL021398 expand/collapse EMBL AC list , AL022145, AL136983, AL031290 Genomic DNA. Translation: CAI23464.1.
AL022145 expand/collapse EMBL AC list , AL136983, AL031290, AL021398 Genomic DNA. Translation: CAI20555.1.
AL022145 expand/collapse EMBL AC list , AL136983, AL031290, AL021398 Genomic DNA. Translation: CAI20556.1.
AL031290 expand/collapse EMBL AC list , AL022145, AL136983, AL021398 Genomic DNA. Translation: CAI22718.1.
AL031290 expand/collapse EMBL AC list , AL022145, AL136983, AL021398 Genomic DNA. Translation: CAI22719.1.
CH471067 Genomic DNA. Translation: EAW91007.1.
BC142697 mRNA. Translation: AAI42698.1.
PIRT00038.
RefSeqNP_996991.1. NM_207108.2.
UniGeneHs.495897.

3D structure databases

ProteinModelPortalO14525.
SMRO14525. Positions 612-767.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106952. 1 interaction.
STRING9606.ENSP00000354536.

PTM databases

PhosphoSiteO14525.

Proteomic databases

PaxDbO14525.
PRIDEO14525.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361833; ENSP00000354536; ENSG00000152092. [O14525-2]
ENST00000367654; ENSP00000356626; ENSG00000152092. [O14525-1]
ENST00000424564; ENSP00000395041; ENSG00000152092. [O14525-3]
GeneID460.
KEGGhsa:460.
UCSCuc001glc.3. human. [O14525-2]
uc009wwx.1. human.

Organism-specific databases

CTD460.
GeneCardsGC01M176826.
HGNCHGNC:773. ASTN1.
MIM600904. gene.
neXtProtNX_O14525.
PharmGKBPA162376961.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG28397.
HOGENOMHOG000034112.
HOVERGENHBG050597.
InParanoidO14525.
OMAITETCPE.
PhylomeDBO14525.
TreeFamTF332034.

Gene expression databases

ArrayExpressO14525.
BgeeO14525.
CleanExHS_ASTN1.
GenevestigatorO14525.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR000742. EG-like_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR020864. MACPF.
[Graphical view]
SMARTSM00181. EGF. 2 hits.
SM00060. FN3. 1 hit.
SM00457. MACPF. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
ProtoNetSearch...

Other

ChiTaRSASTN1. human.
GenomeRNAi460.
NextBio1905.
PROO14525.
SOURCESearch...

Entry information

Entry nameASTN1_HUMAN
AccessionPrimary (citable) accession number: O14525
Secondary accession number(s): A5PL12 expand/collapse secondary AC list , B4DHI9, E9PFR8, O60799, Q5W0V7, Q5W0V8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 10, 2005
Last modified: April 16, 2014
This is version 129 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM