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Q9H6X2 (ANTR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Anthrax toxin receptor 1
Alternative name(s):
Tumor endothelial marker 8
Gene names
Name:ANTXR1
Synonyms:ATR, TEM8
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length564 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. Ref.9 Ref.10

Subunit structure

Interacts with gelatin and type 1 collagen. Interacts with the actin cytoskeleton. Binds to the protective antigen (PA) of Bacillus anthracis. Binding does not occur in the presence of calcium. Ref.2 Ref.6 Ref.9 Ref.10 Ref.13

Subcellular location

Cell membrane; Single-pass type I membrane protein. Cell projection › lamellipodium membrane; Single-pass type I membrane protein. Cell projection › filopodium membrane; Single-pass type I membrane protein. Note: At the membrane of lamellipodia and at the tip of actin-enriched filopodia. Colocalizes with actin at the base of lamellipodia. Ref.10

Tissue specificity

Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells. Ref.9

Induction

Up-regulated in cultured angiogenic umbilical vein endothelial cells. Ref.9

Domain

Binding to PA occurs through the VWA domain.

Involvement in disease

Defects in ANTXR1 are associated with susceptibility to hemangioma capillary infantile (HCI) [MIM:602089]. HCI are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Ref.14

Sequence similarities

Belongs to the ATR family.

Contains 1 VWFA domain.

Sequence caution

The sequence BAA91707.1 differs from that shown. Reason: Erroneous initiation (Translation N-terminally extended) due to a conflict with the genome, including a frameshift.

The sequence BAB15128.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

LRP6O755813EBI-905643,EBI-910915
pagAP134233EBI-905659,EBI-456868From a different organism.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q9H6X2-1)

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: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 2 (identifier: Q9H6X2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     365-368: EDDD → NKIK
     369-564: Missing.
Isoform 3 (identifier: Q9H6X2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     268-297: NEKPFSVEDTYLLCPAPILKEVGMKAALQV → SKSLQSPWVSSTSGFKEGNSHPCLPARPHT
     298-564: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9H6X2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     319-333: DGSILAIALLILFLL → LHKIASGPTTAACME
     334-564: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3232 Potential
Chain33 – 564532Anthrax toxin receptor 1
PRO_0000002692

Regions

Topological domain33 – 321289Extracellular Potential
Transmembrane322 – 34221Helical; Potential
Topological domain343 – 564222Cytoplasmic Potential
Domain44 – 215172VWFA
Region154 – 1607Interaction with PA
Compositional bias360 – 3689Asp/Glu-rich (highly acidic)
Compositional bias506 – 56459Pro-rich

Sites

Metal binding521Divalent metal cation By similarity
Metal binding541Divalent metal cation By similarity
Metal binding1181Divalent metal cation By similarity

Amino acid modifications

Modified residue3621Phosphoserine Ref.8
Modified residue4251Phosphotyrosine Ref.11
Glycosylation1661N-linked (GlcNAc...) Potential
Glycosylation1841N-linked (GlcNAc...) Ref.12
Glycosylation2621N-linked (GlcNAc...) Potential
Disulfide bond39 ↔ 220 Ref.13

Natural variations

Alternative sequence268 – 29730NEKPF…AALQV → SKSLQSPWVSSTSGFKEGNS HPCLPARPHT in isoform 3.
VSP_000446
Alternative sequence298 – 564267Missing in isoform 3.
VSP_000447
Alternative sequence319 – 33315DGSIL…ILFLL → LHKIASGPTTAACME in isoform 4.
VSP_000448
Alternative sequence334 – 564231Missing in isoform 4.
VSP_000449
Alternative sequence365 – 3684EDDD → NKIK in isoform 2.
VSP_000444
Alternative sequence369 – 564196Missing in isoform 2.
VSP_000445
Natural variant71R → K. Ref.3
Corresponds to variant rs28365986 [ dbSNP | Ensembl ].
VAR_053015
Natural variant3261A → T in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation disrupts interaction of these molecules in a dominant-negative manner. Ref.14
VAR_063146

Secondary structure

1 .............................. 564
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2001. Version 2.
Checksum: B118A00AD5DF2233

FASTA56462,789
        10         20         30         40         50         60 
MATAERRALG IGFQWLSLAT LVLICAGQGG RREDGGPACY GGFDLYFILD KSGSVLHHWN 

        70         80         90        100        110        120 
EIYYFVEQLA HKFISPQLRM SFIVFSTRGT TLMKLTEDRE QIRQGLEELQ KVLPGGDTYM 

       130        140        150        160        170        180 
HEGFERASEQ IYYENRQGYR TASVIIALTD GELHEDLFFY SEREANRSRD LGAIVYCVGV 

       190        200        210        220        230        240 
KDFNETQLAR IADSKDHVFP VNDGFQALQG IIHSILKKSC IEILAAEPST ICAGESFQVV 

       250        260        270        280        290        300 
VRGNGFRHAR NVDRVLCSFK INDSVTLNEK PFSVEDTYLL CPAPILKEVG MKAALQVSMN 

       310        320        330        340        350        360 
DGLSFISSSV IITTTHCSDG SILAIALLIL FLLLALALLW WFWPLCCTVI IKEVPPPPAE 

       370        380        390        400        410        420 
ESEEEDDDGL PKKKWPTVDA SYYGGRGVGG IKRMEVRWGE KGSTEEGAKL EKAKNARVKM 

       430        440        450        460        470        480 
PEQEYEFPEP RNLNNNMRRP SSPRKWYSPI KGKLDALWVL LRKGYDRVSV MRPQPGDTGR 

       490        500        510        520        530        540 
CINFTRVKNN QPAKYPLNNA YHTSSPPPAP IYTPPPPAPH CPPPPPSAPT PPIPSPPSTL 

       550        560 
PPPPQAPPPN RAPPPSRPPP RPSV

« Hide

Isoform 2 [UniParc].

Checksum: 8A87B13FFA7D8753
Show »

FASTA36841,157
Isoform 3 [UniParc].

Checksum: 96C8BB0E8EBB0C4A
Show »

FASTA29733,280
Isoform 4 [UniParc].

Checksum: F864586DEE043BBD
Show »

FASTA33337,055

References

« Hide 'large scale' references
[1]"Genes expressed in human tumor endothelium."
St Croix B., Rago C., Velculescu V.E., Traverso G., Romans K.E., Montgomery E., Lal A., Riggins G.J., Lengauer C., Vogelstein B., Kinzler K.W.
Science 289:1197-1202(2000) [PubMed: 10947988] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Identification of the cellular receptor for anthrax toxin."
Bradley K.A., Mogridge J., Mourez M., Collier R.J., Young J.A.T.
Nature 414:225-229(2001) [PubMed: 11700562] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH ANTHRAX TOXIN.
[3]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 184-564 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT LYS-7.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed: 15815621] [Abstract]
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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Kidney.
[6]"Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor."
Scobie H.M., Rainey G.J.A., Bradley K.A., Young J.A.T.
Proc. Natl. Acad. Sci. U.S.A. 100:5170-5174(2003) [PubMed: 12700348] [Abstract]
Cited for: INTERACTION WITH ANTHRAX TOXIN.
Tissue: Placenta.
[7]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[8]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed: 17081983] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-362, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[9]"TEM8 expression stimulates endothelial cell adhesion and migration by regulating cell-matrix interactions on collagen."
Hotchkiss K.A., Basile C.M., Spring S.C., Bonuccelli G., Lisanti M.P., Terman B.I.
Exp. Cell Res. 305:133-144(2005) [PubMed: 15777794] [Abstract]
Cited for: FUNCTION, INDUCTION, INTERACTION WITH TYPE 1 COLLAGEN AND GELATIN, TISSUE SPECIFICITY.
[10]"Anthrax toxin receptor 1/tumor endothelium marker 8 mediates cell spreading by coupling extracellular ligands to the actin cytoskeleton."
Werner E., Kowalczyk A.P., Faundez V.
J. Biol. Chem. 281:23227-23236(2006) [PubMed: 16762926] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TYPE 1 COLLAGEN; THE ACTIN CYTOSKELETON AND BACILLUS ANTHRACIS PROTECTIVE ANTIGEN.
[11]"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer."
Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. expand/collapse author list , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.
Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-425, MASS SPECTROMETRY.
Tissue: Lung carcinoma.
[12]"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
Nat. Biotechnol. 27:378-386(2009) [PubMed: 19349973] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-184, MASS SPECTROMETRY.
Tissue: Leukemic T-cell.
[13]"The structure of tumor endothelial marker 8 (TEM8) extracellular domain and implications for its receptor function for recognizing anthrax toxin."
Fu S., Tong X., Cai C., Zhao Y., Wu Y., Li Y., Xu J., Zhang X.C., Xu L., Chen W., Rao Z.
PLoS ONE 5:E11203-E11203(2010) [PubMed: 20585457] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 38-220, SUBUNIT, INTERACTION WITH ANTHRAX TOXIN, DISULFIDE BOND.
[14]"Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma."
Jinnin M., Medici D., Park L., Limaye N., Liu Y., Boscolo E., Bischoff J., Vikkula M., Boye E., Olsen B.R.
Nat. Med. 14:1236-1246(2008) [PubMed: 18931684] [Abstract]
Cited for: VARIANT HCI SUSCEPTIBILITY THR-326.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF279145 mRNA. Translation: AAK52094.1.
AF421380 mRNA. Translation: AAL26496.1.
AK001463 mRNA. Translation: BAA91707.1. Sequence problems.
AK025429 mRNA. Translation: BAB15128.1. Different initiation.
AK292113 mRNA. Translation: BAF84802.1.
AC112230 Genomic DNA. Translation: AAX88860.1.
AC114802 Genomic DNA. Translation: AAY24067.1.
BC012074 mRNA. Translation: AAH12074.1.
IPIIPI00030431.
IPI00071177.
IPI00219619.
IPI00871735.
RefSeqNP_060623.2. NM_018153.3.
NP_115584.1. NM_032208.2.
NP_444262.1. NM_053034.2.
UniGeneHs.165859.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3N2NX-ray1.80A/B/C/D/E/F38-220[»]
ProteinModelPortalQ9H6X2.
SMRQ9H6X2. Positions 37-297.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9H6X2. 2 interactions.
STRINGQ9H6X2.

PTM databases

PhosphoSiteQ9H6X2.

Polymorphism databases

DMDM17366074.

Proteomic databases

PRIDEQ9H6X2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303714; ENSP00000301945; ENSG00000169604.
GeneID84168.
KEGGhsa:84168.
UCSCuc002sfd.1. human.
uc002sfe.1. human.
uc002sff.1. human.
uc002sfg.1. human.

Organism-specific databases

CTD84168.
GeneCardsGC02P069152.
H-InvDBHIX0002125.
HGNCHGNC:21014. ANTXR1.
MIM602089. phenotype.
606410. gene.
neXtProtNX_Q9H6X2.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00430000031214.
HOGENOMHBG443624.
HOVERGENHBG050514.
InParanoidQ9H6X2.
OMAHCSDGTI.
OrthoDBEOG45TCN4.
PhylomeDBQ9H6X2.

Enzyme and pathway databases

Pathway_Interaction_DBanthraxpathway. Cellular roles of Anthrax toxin.

Gene expression databases

ArrayExpressQ9H6X2.
BgeeQ9H6X2.
CleanExHS_ANTXR1.
HS_ATR.
GenevestigatorQ9H6X2.
GermOnlineENSG00000169604. Homo sapiens.

Family and domain databases

InterProIPR017360. Anthrax_toxin_rcpt.
IPR008399. Anthrax_toxin_rcpt_C.
IPR008400. Anthrax_toxin_rcpt_extracel.
IPR002035. VWF_A.
[Graphical view]
PfamPF05586. Ant_C. 1 hit.
PF05587. Anth_Ig. 1 hit.
PF00092. VWA. 1 hit.
[Graphical view]
PIRSFPIRSF038023. Anthrax_toxin_receptor_2. 1 hit.
ProDomPD377005. Anthrax_toxin_rcpt_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00327. VWA. 1 hit.
[Graphical view]
PROSITEPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio73524.
SOURCESearch...

Entry information

Entry nameANTR1_HUMAN
AccessionPrimary (citable) accession number: Q9H6X2
Secondary accession number(s): A8K7U8 expand/collapse secondary AC list , Q4ZFV6, Q53QD8, Q96P02, Q9NVP3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: November 2, 2001
Last modified: January 25, 2012
This is version 115 of the entry and version 2 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

Human chromosome 2

Human chromosome 2: 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

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

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