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Q8TE60 (ATS18_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
A disintegrin and metalloproteinase with thrombospondin motifs 18

Short name=ADAM-TS 18
Short name=ADAM-TS18
Short name=ADAMTS-18
EC=3.4.24.-
Gene names
Name:ADAMTS18
Synonyms:ADAMTS21
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1221 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Cofactor

Binds 1 zinc ion per subunit By similarity.

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Tissue specificity

Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium.

Domain

The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.

Post-translational modification

The precursor is cleaved by a furin endopeptidase By similarity.

Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion By similarity.

Involvement in disease

Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]: A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Contains 1 disintegrin domain.

Contains 1 peptidase M12B domain.

Contains 1 PLAC domain.

Contains 5 TSP type-1 domains.

Caution

Variant Leu-179 has been originally reported as disease-causing mutation in a patient with Knobloch syndrome (Ref.7). It has been subsequently shown that Knobloch syndrome in the patient was due to an intronic mutation in COL18A1. Variant Leu-179 is, therefore, not responsible for the disease phenotype (Ref.9).

Sequence caution

The sequence BAC85503.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAC83612.1 differs from that shown. Reason: Probable intron retention.

The sequence CAC83612.1 differs from that shown. Reason: Aberrant splicing.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TE60-1)

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: Q8TE60-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1064-1082: CSATCGLGVRKREMKCSEK → VWIRSHCWVRRLRPSWLTQ
     1083-1221: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4747 Potential
Propeptide48 – 284237 By similarity
PRO_0000029200
Chain285 – 1221937A disintegrin and metalloproteinase with thrombospondin motifs 18
PRO_0000042163

Regions

Domain293 – 498206Peptidase M12B
Domain498 – 57780Disintegrin
Domain589 – 64456TSP type-1 1
Domain931 – 99060TSP type-1 2
Domain991 – 104959TSP type-1 3
Domain1052 – 111665TSP type-1 4
Domain1123 – 117856TSP type-1 5
Domain1184 – 122138PLAC
Region750 – 876127Spacer
Motif252 – 2598Cysteine switch By similarity
Compositional bias644 – 749106Cys-rich

Sites

Active site4371 By similarity
Metal binding2541Zinc; in inhibited form By similarity
Metal binding4361Zinc; catalytic By similarity
Metal binding4401Zinc; catalytic By similarity
Metal binding4461Zinc; catalytic By similarity

Amino acid modifications

Glycosylation1511N-linked (GlcNAc...) Potential
Glycosylation1901N-linked (GlcNAc...) Potential
Glycosylation3131N-linked (GlcNAc...) Potential
Glycosylation7451N-linked (GlcNAc...) Potential
Glycosylation8381N-linked (GlcNAc...) Potential
Glycosylation9091N-linked (GlcNAc...) Potential
Disulfide bond369 ↔ 420 By similarity
Disulfide bond395 ↔ 402 By similarity
Disulfide bond414 ↔ 493 By similarity
Disulfide bond453 ↔ 477 By similarity
Disulfide bond521 ↔ 546 By similarity
Disulfide bond532 ↔ 553 By similarity
Disulfide bond541 ↔ 572 By similarity
Disulfide bond566 ↔ 577 By similarity
Disulfide bond601 ↔ 638 By similarity
Disulfide bond605 ↔ 643 By similarity
Disulfide bond616 ↔ 628 By similarity

Natural variations

Alternative sequence1064 – 108219CSATC…KCSEK → VWIRSHCWVRRLRPSWLTQ in isoform 2.
VSP_015776
Alternative sequence1083 – 1221139Missing in isoform 2.
VSP_015777
Natural variant1791S → L. Ref.7 Ref.9
Corresponds to variant rs387906972 [ dbSNP | Ensembl ].
VAR_066554
Natural variant1911Y → H. Ref.3
Corresponds to variant rs11643211 [ dbSNP | Ensembl ].
VAR_060231
Natural variant2021L → P in MMCAT. Ref.8
VAR_070849
Natural variant3821R → K in a colorectal cancer sample; somatic mutation. Ref.6
VAR_036152
Natural variant4551K → T in a colorectal cancer sample; somatic mutation. Ref.6
VAR_036153
Natural variant5771C → W in MMCAT. Ref.8
VAR_070850
Natural variant6261L → I. Ref.1 Ref.3
Corresponds to variant rs11640912 [ dbSNP | Ensembl ].
VAR_060232
Natural variant7691L → I. Ref.3
Corresponds to variant rs9930984 [ dbSNP | Ensembl ].
VAR_057083
Natural variant9461A → S. Ref.1
Corresponds to variant rs12935394 [ dbSNP | Ensembl ].
VAR_057084
Natural variant10801S → R. Ref.4
Corresponds to variant rs35478105 [ dbSNP | Ensembl ].
VAR_057085
Natural variant11591S → T.
Corresponds to variant rs3743749 [ dbSNP | Ensembl ].
VAR_057086

Experimental info

Sequence conflict4101I → T in CAC83612. Ref.1

Sequences

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

Last modified May 18, 2010. Version 3.
Checksum: 4F662B2D2ABF5CA3

FASTA1,221135,167
        10         20         30         40         50         60 
MECALLLACA FPAAGSGPPR GLAGLGRVAK ALQLCCLCCA SVAAALASDS SSGASGLNDD 

        70         80         90        100        110        120 
YVFVTPVEVD SAGSYISHDI LHNGRKKRSA QNARSSLHYR FSAFGQELHL ELKPSAILSS 

       130        140        150        160        170        180 
HFIVQVLGKD GASETQKPEV QQCFYQGFIR NDSSSSVAVS TCAGLSGLIR TRKNEFLISP 

       190        200        210        220        230        240 
LPQLLAQEHN YSSPAGHHPH VLYKRTAEEK IQRYRGYPGS GRNYPGYSPS HIPHASQSRE 

       250        260        270        280        290        300 
TEYHHRRLQK QHFCGRRKKY APKPPTEDTY LRFDEYGSSG RPRRSAGKSQ KGLNVETLVV 

       310        320        330        340        350        360 
ADKKMVEKHG KGNVTTYILT VMNMVSGLFK DGTIGSDINV VVVSLILLEQ EPGGLLINHH 

       370        380        390        400        410        420 
ADQSLNSFCQ WQSALIGKNG KRHDHAILLT GFDICSWKNE PCDTLGFAPI SGMCSKYRSC 

       430        440        450        460        470        480 
TINEDTGLGL AFTIAHESGH NFGMIHDGEG NPCRKAEGNI MSPTLTGNNG VFSWSSCSRQ 

       490        500        510        520        530        540 
YLKKFLSTPQ AGCLVDEPKQ AGQYKYPDKL PGQIYDADTQ CKWQFGAKAK LCSLGFVKDI 

       550        560        570        580        590        600 
CKSLWCHRVG HRCETKFMPA AEGTVCGLSM WCRQGQCVKF GELGPRPIHG QWSAWSKWSE 

       610        620        630        640        650        660 
CSRTCGGGVK FQERHCNNPK PQYGGLFCPG SSRIYQLCNI NPCNENSLDF RAQQCAEYNS 

       670        680        690        700        710        720 
KPFRGWFYQW KPYTKVEEED RCKLYCKAEN FEFFFAMSGK VKDGTPCSPN KNDVCIDGVC 

       730        740        750        760        770        780 
ELVGCDHELG SKAVSDACGV CKGDNSTCKF YKGLYLNQHK ANEYYPVVLI PAGARSIEIQ 

       790        800        810        820        830        840 
ELQVSSSYLA VRSLSQKYYL TGGWSIDWPG EFPFAGTTFE YQRSFNRPER LYAPGPTNET 

       850        860        870        880        890        900 
LVFEILMQGK NPGIAWKYAL PKVMNGTPPA TKRPAYTWSI VQSECSVSCG GGYINVKAIC 

       910        920        930        940        950        960 
LRDQNTQVNS SFCSAKTKPV TEPKICNAFS CPAYWMPGEW STCSKACAGG QQSRKIQCVQ 

       970        980        990       1000       1010       1020 
KKPFQKEEAV LHSLCPVSTP TQVQACNSHA CPPQWSLGPW SQCSKTCGRG VRKRELLCKG 

      1030       1040       1050       1060       1070       1080 
SAAETLPESQ CTSLPRPELQ EGCVLGRCPK NSRLQWVASS WSECSATCGL GVRKREMKCS 

      1090       1100       1110       1120       1130       1140 
EKGFQGKLIT FPERRCRNIK KPNLDLEETC NRRACPAHPV YNMVAGWYSL PWQQCTVTCG 

      1150       1160       1170       1180       1190       1200 
GGVQTRSVHC VQQGRPSSSC LLHQKPPVLR ACNTNFCPAP EKREDPSCVD FFNWCHLVPQ 

      1210       1220 
HGVCNHKFYG KQCCKSCTRK I 

« Hide

Isoform 2 [UniParc].

Checksum: 5620CE80BDFEEA8E
Show »

FASTA1,082119,768

References

« Hide 'large scale' references
[1]"Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains."
Cal S., Obaya A.J., Llamazares M., Garabaya C., Quesada V., Lopez-Otin C.
Gene 283:49-62(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS ILE-626 AND SER-946.
[2]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-191; ILE-626 AND ILE-769.
Tissue: Placenta.
[4]"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] OF 761-1221 (ISOFORM 1), VARIANT ARG-1080.
Tissue: Cerebellum.
[5]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-382 AND THR-455.
[7]"Identification of ADAMTS18 as a gene mutated in Knobloch syndrome."
Aldahmesh M.A., Khan A.O., Mohamed J.Y., Alkuraya H., Ahmed H., Bobis S., Al-Mesfer S., Alkuraya F.S.
J. Med. Genet. 48:597-601(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LEU-179.
[8]"The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18."
Aldahmesh M.A., Alshammari M.J., Khan A.O., Mohamed J.Y., Alhabib F.A., Alkuraya F.S.
Hum. Mutat. 34:1195-1199(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MMCAT PRO-202 AND TRP-577.
[9]"No evidence for locus heterogeneity in Knobloch syndrome."
Aldahmesh M.A., Khan A.O., Mohamed J.Y., Levin A.V., Wuthisiri W., Lynch S., McCreery K., Alkuraya F.S.
J. Med. Genet. 50:565-566(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LEU-179, LACK OF INVOLVEMENT IN KNOBLOCH SYNDROME.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ311903 mRNA. Translation: CAC83612.1. Sequence problems.
AC009139 Genomic DNA. No translation available.
AC010548 Genomic DNA. No translation available.
AC025284 Genomic DNA. No translation available.
BC063283 mRNA. Translation: AAH63283.1.
AK122677 mRNA. Translation: BAC85503.1. Different initiation.
RefSeqNP_955387.1. NM_199355.2.
UniGeneHs.188746.

3D structure databases

ProteinModelPortalQ8TE60.
SMRQ8TE60. Positions 295-863, 869-1179.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000282849.

Protein family/group databases

MEROPSM12.028.

PTM databases

PhosphoSiteQ8TE60.

Polymorphism databases

DMDM296439427.

Proteomic databases

PaxDbQ8TE60.
PRIDEQ8TE60.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282849; ENSP00000282849; ENSG00000140873. [Q8TE60-1]
GeneID170692.
KEGGhsa:170692.
UCSCuc002ffc.4. human. [Q8TE60-1]
uc010chc.1. human. [Q8TE60-2]

Organism-specific databases

CTD170692.
GeneCardsGC16M077316.
H-InvDBHIX0026938.
HGNCHGNC:17110. ADAMTS18.
HPAHPA044326.
MIM607512. gene.
615458. phenotype.
neXtProtNX_Q8TE60.
Orphanet369970. Microcornea-myopic chorioretinal atrophy-telecanthus syndrome.
PharmGKBPA24544.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG237764.
HOGENOMHOG000004800.
HOVERGENHBG004315.
InParanoidQ8TE60.
KOK08632.
OMACPAHPVY.
OrthoDBEOG73FQKT.
PhylomeDBQ8TE60.
TreeFamTF313537.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ8TE60.
BgeeQ8TE60.
CleanExHS_ADAMTS18.
GenevestigatorQ8TE60.

Family and domain databases

Gene3D3.40.390.10. 1 hit.
InterProIPR010294. ADAM_spacer1.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR013273. Peptidase_M12B_ADAM-TS.
IPR002870. Peptidase_M12B_N.
IPR010909. PLAC.
IPR000884. Thrombospondin_1_rpt.
[Graphical view]
PfamPF05986. ADAM_spacer1. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF08686. PLAC. 1 hit.
PF01421. Reprolysin. 1 hit.
PF00090. TSP_1. 5 hits.
[Graphical view]
PRINTSPR01857. ADAMTSFAMILY.
SMARTSM00209. TSP1. 6 hits.
[Graphical view]
SUPFAMSSF82895. SSF82895. 5 hits.
PROSITEPS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi170692.
NextBio89110.
PROQ8TE60.
SOURCESearch...

Entry information

Entry nameATS18_HUMAN
AccessionPrimary (citable) accession number: Q8TE60
Secondary accession number(s): Q6P4R5, Q6ZWJ9
Entry history
Integrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 113 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

Peptidase families

Classification of peptidase families and list of entries

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 16

Human chromosome 16: entries, gene names and cross-references to MIM