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O14525

- ASTN1_HUMAN

UniProt

O14525 - ASTN1_HUMAN

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Protein
Astrotactin-1
Gene
ASTN1, ASTN, KIAA0289
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Biological processi

  1. locomotory behavior Source: Ensembl
  2. neuron cell-cell adhesion Source: Ensembl
  3. neuron migration Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Astrotactin-1
Gene namesi
Name:ASTN1
Synonyms:ASTN, KIAA0289
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:773. ASTN1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei154 – 17421Helical; Reviewed prediction
Add
BLAST
Transmembranei384 – 40219Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endosome Source: Ensembl
  2. external side of plasma membrane Source: Ensembl
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162376961.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121 Reviewed prediction
Add
BLAST
Chaini22 – 13021281Astrotactin-1
PRO_0000007481Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi115 – 1151N-linked (GlcNAc...) Reviewed prediction
Glycosylationi226 – 2261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi382 – 3821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi453 – 4531N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi463 ↔ 475 By similarity
Disulfide bondi471 ↔ 490 By similarity
Disulfide bondi492 ↔ 506 By similarity
Disulfide bondi612 ↔ 625 By similarity
Disulfide bondi619 ↔ 636 By similarity
Disulfide bondi638 ↔ 651 By similarity
Disulfide bondi660 ↔ 672 By similarity
Disulfide bondi668 ↔ 692 By similarity
Disulfide bondi694 ↔ 707 By similarity
Glycosylationi729 – 7291N-linked (GlcNAc...) Reviewed prediction
Glycosylationi742 – 7421N-linked (GlcNAc...) Reviewed prediction
Glycosylationi804 – 8041N-linked (GlcNAc...) Reviewed prediction
Glycosylationi984 – 9841N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO14525.
PRIDEiO14525.

PTM databases

PhosphoSiteiO14525.

Expressioni

Gene expression databases

ArrayExpressiO14525.
BgeeiO14525.
CleanExiHS_ASTN1.
GenevestigatoriO14525.

Interactioni

Protein-protein interaction databases

BioGridi106952. 1 interaction.
STRINGi9606.ENSP00000354536.

Structurei

3D structure databases

ProteinModelPortaliO14525.
SMRiO14525. Positions 612-767.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini459 – 50749EGF-like 1
Add
BLAST
Domaini608 – 65245EGF-like 2
Add
BLAST
Domaini656 – 70853EGF-like 3
Add
BLAST
Domaini1030 – 1145116Fibronectin type-III 1
Add
BLAST

Sequence similaritiesi

Belongs to the astrotactin family.
Contains 3 EGF-like domains.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG28397.
HOGENOMiHOG000034112.
HOVERGENiHBG050597.
InParanoidiO14525.
OMAiITETCPE.
PhylomeDBiO14525.
TreeFamiTF332034.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR026995. Astrotactin.
IPR000742. EG-like_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR020864. MACPF.
[Graphical view]
PANTHERiPTHR16592. PTHR16592. 1 hit.
SMARTiSM00181. EGF. 2 hits.
SM00060. FN3. 1 hit.
SM00457. MACPF. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 2 (identifier: O14525-1) [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

MALAGLCALL ACCWGPAAVL ATAAGDVDPS KELECKLKSI TVSALPFLRE     50
NDLSIMHSPS ASEPKLLFSV RNDFPGEMVV VDDLENTELP YFVLEISGNT 100
EDIPLVRWRQ QWLENGTLLF HIHHQDGAPS LPGQDPTEEP QHESAEEELR 150
ILHISVMGGM IALLLSILCL VMILYTRRRW CKRRRVPQPQ KSASAEAANE 200
IHYIPSVLIG GHGRESLRNA RVQGHNSSGT LSIRETPILD GYEYDITDLR 250
HHLQRECMNG GEDFASQVTR TLDSLQGCNE KSGMDLTPGS DNAKLSLMNK 300
YKDNIIATSP VDSNHQQATL LSHTSSSQRK RINNKARAGS AFLNPEGDSG 350
TEAENDPQLT FYTDPSRSRR RSRVGSPRSP VNKTTLTLIS ITSCVIGLVC 400
SSHVNCPLVV KITLHVPEHL IADGSRFILL EGSQLDASDW LNPAQVVLFS 450
QQNSSGPWAM DLCARRLLDP CEHQCDPETG RREHRAAGEC LCYEGYMKDP 500
VHKHLCIRNE WGTNQGPWPY TIFQRGFDLV LGEQPSDKIF RFTYTLGEGM 550
WLPLSKSFVI PPAELAINPS AKCKTDMTVM EDAVEVREEL MTSSSFDSLE 600
VLLDSFGPVR DCSKDNGGCS KNFRCISDRK LDSTGCVCPS GLSPMKDSSG 650
CYDRHIGVDC SDGFNGGCEQ LCLQQMAPFP DDPTLYNILM FCGCIEDYKL 700
GVDGRSCQLI TETCPEGSDC GESRELPMNQ TLFGEMFFGY NNHSKEVAAG 750
QVLKGTFRQN NFARGLDQQL PDGLVVATVP LENQCLEEIS EPTPDPDFLT 800
GMVNFSEVSG YPVLQHWKVR SVMYHIKLNQ VAISQALSNA LHSLDGATSR 850
ADFVALLDQF GNHYIQEAIY GFEESCSIWY PNKQVQRRLW LEYEDISKGN 900
SPSDESEERE RDPKVLTFPE YITSLSDSGT KHMAAGVRME CHSKGRCPSS 950
CPLCHVTSSP DTPAEPVLLE VTKAAPIYEL VTNNQTQRLL QEATMSSLWC 1000
SGTGDVIEDW CRCDSTAFGA DGLPTCAPLP QPVLRLSTVH EPSSTLVVLE 1050
WEHSEPPIGV QIVDYLLRQE KVTDRMDHSK VETETVLSFV DDIISGAKSP 1100
CAMPSQVPDK QLTTISLIIR CLEPDTIYMF TLWGVDNTGR RSRPSDVIVK 1150
TPCPVVDDVK AQEIADKIYN LFNGYTSGKE QQTAYNTLLD LGSPTLHRVL 1200
YHYNQHYESF GEFTWRCEDE LGPRKAGLIL SQLGDLSSWC NGLLQEPKIS 1250
LRRSSLKYLG CRYSEIKPYG LDWAELSRDL RKTCEEQTLS IPYNDYGDSK 1300
EI 1302

Note: No experimental confirmation available.

Length:1,302
Mass (Da):144,913
Last modified:May 10, 2005 - v3
Checksum:iCA9EDDA6621C4F3B
GO
Isoform 1 (identifier: O14525-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,294
Mass (Da):143,979
Checksum:iC38F3B239708FC9A
GO
Isoform 3 (identifier: O14525-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,216
Mass (Da):135,083
Checksum:i91B51202F5EF4EC7
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti932 – 9321H → R.3 Publications
Corresponds to variant rs2228956 [ dbSNP | Ensembl ].
VAR_069030
Natural varianti942 – 9421H → Q.3 Publications
Corresponds to variant rs2281180 [ dbSNP | Ensembl ].
VAR_069031
Natural varianti1270 – 12701G → R.
Corresponds to variant rs12118933 [ dbSNP | Ensembl ].
VAR_036764
Natural varianti1278 – 12781R → G.
Corresponds to variant rs12118933 [ dbSNP | Ensembl ].
VAR_055713

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei480 – 4878Missing in isoform 1 and isoform 3.
VSP_001371
Alternative sequencei1225 – 130278Missing in isoform 3.
VSP_045069Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti439 – 4391D → E in BAG58151. 1 Publication
Sequence conflicti994 – 9941T → I in BAG58151. 1 Publication
Isoform 3 (identifier: O14525-3)
Sequence conflicti1216 – 12161R → RYQ in BAG58151. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006627 mRNA. Translation: BAA22958.1. Different initiation.
AK295126 mRNA. Translation: BAG58151.1.
AL136983
, AL021398, AL022145, AL031290 Genomic DNA. Translation: CAH71678.1.
AL136983
, AL021398, AL022145, AL031290 Genomic DNA. Translation: CAH71679.1.
AL021398
, AL022145, AL136983, AL031290 Genomic DNA. Translation: CAI23463.1.
AL021398
, AL022145, AL136983, AL031290 Genomic DNA. Translation: CAI23464.1.
AL022145
, AL136983, AL031290, AL021398 Genomic DNA. Translation: CAI20555.1.
AL022145
, AL136983, AL031290, AL021398 Genomic DNA. Translation: CAI20556.1.
AL031290
, AL022145, AL136983, AL021398 Genomic DNA. Translation: CAI22718.1.
AL031290
, AL022145, AL136983, AL021398 Genomic DNA. Translation: CAI22719.1.
CH471067 Genomic DNA. Translation: EAW91007.1.
BC142697 mRNA. Translation: AAI42698.1.
CCDSiCCDS1319.1. [O14525-2]
CCDS44280.1. [O14525-3]
PIRiT00038.
RefSeqiNP_996991.1. NM_207108.2. [O14525-3]
UniGeneiHs.495897.

Genome annotation databases

EnsembliENST00000361833; ENSP00000354536; ENSG00000152092. [O14525-2]
ENST00000367654; ENSP00000356626; ENSG00000152092. [O14525-1]
ENST00000424564; ENSP00000395041; ENSG00000152092. [O14525-3]
GeneIDi460.
KEGGihsa:460.
UCSCiuc001glc.3. human. [O14525-2]
uc009wwx.1. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006627 mRNA. Translation: BAA22958.1 . Different initiation.
AK295126 mRNA. Translation: BAG58151.1 .
AL136983
, AL021398 , AL022145 , AL031290 Genomic DNA. Translation: CAH71678.1 .
AL136983
, AL021398 , AL022145 , AL031290 Genomic DNA. Translation: CAH71679.1 .
AL021398
, AL022145 , AL136983 , AL031290 Genomic DNA. Translation: CAI23463.1 .
AL021398
, AL022145 , AL136983 , AL031290 Genomic DNA. Translation: CAI23464.1 .
AL022145
, AL136983 , AL031290 , AL021398 Genomic DNA. Translation: CAI20555.1 .
AL022145
, AL136983 , AL031290 , AL021398 Genomic DNA. Translation: CAI20556.1 .
AL031290
, AL022145 , AL136983 , AL021398 Genomic DNA. Translation: CAI22718.1 .
AL031290
, AL022145 , AL136983 , AL021398 Genomic DNA. Translation: CAI22719.1 .
CH471067 Genomic DNA. Translation: EAW91007.1 .
BC142697 mRNA. Translation: AAI42698.1 .
CCDSi CCDS1319.1. [O14525-2 ]
CCDS44280.1. [O14525-3 ]
PIRi T00038.
RefSeqi NP_996991.1. NM_207108.2. [O14525-3 ]
UniGenei Hs.495897.

3D structure databases

ProteinModelPortali O14525.
SMRi O14525. Positions 612-767.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106952. 1 interaction.
STRINGi 9606.ENSP00000354536.

PTM databases

PhosphoSitei O14525.

Proteomic databases

PaxDbi O14525.
PRIDEi O14525.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361833 ; ENSP00000354536 ; ENSG00000152092 . [O14525-2 ]
ENST00000367654 ; ENSP00000356626 ; ENSG00000152092 . [O14525-1 ]
ENST00000424564 ; ENSP00000395041 ; ENSG00000152092 . [O14525-3 ]
GeneIDi 460.
KEGGi hsa:460.
UCSCi uc001glc.3. human. [O14525-2 ]
uc009wwx.1. human.

Organism-specific databases

CTDi 460.
GeneCardsi GC01M176826.
HGNCi HGNC:773. ASTN1.
MIMi 600904. gene.
neXtProti NX_O14525.
PharmGKBi PA162376961.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG28397.
HOGENOMi HOG000034112.
HOVERGENi HBG050597.
InParanoidi O14525.
OMAi ITETCPE.
PhylomeDBi O14525.
TreeFami TF332034.

Miscellaneous databases

ChiTaRSi ASTN1. human.
GenomeRNAii 460.
NextBioi 1905.
PROi O14525.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14525.
Bgeei O14525.
CleanExi HS_ASTN1.
Genevestigatori O14525.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR026995. Astrotactin.
IPR000742. EG-like_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR020864. MACPF.
[Graphical view ]
PANTHERi PTHR16592. PTHR16592. 1 hit.
SMARTi SM00181. EGF. 2 hits.
SM00060. FN3. 1 hit.
SM00457. MACPF. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiASTN1_HUMAN
AccessioniPrimary (citable) accession number: O14525
Secondary accession number(s): A5PL12
, B4DHI9, E9PFR8, O60799, Q5W0V7, Q5W0V8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 10, 2005
Last modified: July 9, 2014
This is version 132 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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