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Q96MT8

- CEP63_HUMAN

UniProt

Q96MT8 - CEP63_HUMAN

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Protein

Centrosomal protein of 63 kDa

Gene

CEP63

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication, through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression.2 Publications

GO - Biological processi

  1. centriole replication Source: UniProtKB
  2. DNA damage checkpoint Source: UniProtKB
  3. G2/M transition of mitotic cell cycle Source: Reactome
  4. mitotic cell cycle Source: Reactome
  5. mitotic nuclear division Source: UniProtKB-KW
  6. signal transduction in response to DNA damage Source: UniProtKB
  7. spindle assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, DNA damage, Mitosis

Enzyme and pathway databases

ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 63 kDa
Short name:
Cep63
Gene namesi
Name:CEP63
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:25815. CEP63.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole
Note: Colocalizes with CEP152 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles.

GO - Cellular componenti

  1. centriole Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. cytosol Source: Reactome
  4. spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Seckel syndrome 6 (SCKL6) [MIM:614728]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Dwarfism, Mental retardation

Organism-specific databases

MIMi614728. phenotype.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA142672124.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 703703Centrosomal protein of 63 kDaPRO_0000089493Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ96MT8.
PaxDbiQ96MT8.
PRIDEiQ96MT8.

PTM databases

PhosphoSiteiQ96MT8.

Expressioni

Gene expression databases

BgeeiQ96MT8.
CleanExiHS_CEP63.
ExpressionAtlasiQ96MT8. baseline and differential.
GenevestigatoriQ96MT8.

Organism-specific databases

HPAiHPA058154.
HPA058313.

Interactioni

Subunit structurei

Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes. May also interact with CDK2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
P140795EBI-741977,EBI-9675698From a different organism.
DISC1Q9NRI57EBI-741977,EBI-529989
taxP034104EBI-741977,EBI-9676218From a different organism.

Protein-protein interaction databases

BioGridi123200. 25 interactions.
DIPiDIP-36374N.
IntActiQ96MT8. 27 interactions.
MINTiMINT-1443653.
STRINGi9606.ENSP00000336524.

Structurei

3D structure databases

ProteinModelPortaliQ96MT8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili22 – 199178Sequence AnalysisAdd
BLAST
Coiled coili242 – 30665Sequence AnalysisAdd
BLAST
Coiled coili353 – 533181Sequence AnalysisAdd
BLAST
Coiled coili676 – 70328Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CEP63 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG116818.
GeneTreeiENSGT00530000063797.
InParanoidiQ96MT8.
KOiK16763.
OMAiKNTEFKP.
OrthoDBiEOG71G9T8.
PhylomeDBiQ96MT8.
TreeFamiTF330595.

Family and domain databases

InterProiIPR029608. Cep63.
[Graphical view]
PANTHERiPTHR18875:SF6. PTHR18875:SF6. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96MT8-1) [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

        10         20         30         40         50
MEALLEGIQN RGHGGGFLTS CEAELQELMK QIDIMVAHKK SEWEGRTHAL
60 70 80 90 100
ETCLKIREQE LKSLRSQLDV THKEVGMLHQ QVEEHEKIKQ EMTMEYKQEL
110 120 130 140 150
KKLHEELCIL KRSYEKLQKK QMREFRGNTK NHREDRSEIE RLTAKIEEFR
160 170 180 190 200
QKSLDWEKQR LIYQQQVSSL EAQRKALAEQ SEIIQAQLVN RKQKLESVEL
210 220 230 240 250
SSQSEIQHLS SKLERANDTI CANELEIERL TMRVNDLVGT SMTVLQEQQQ
260 270 280 290 300
KEEKLRESEK LLEALQEEKR ELKAALQSQE NLIHEARIQK EKLQEKVKAT
310 320 330 340 350
NTQHAVEAIR PREESLAEKK YTSQGQGDLD SVLSQLNFTH TSEDLLQAEV
360 370 380 390 400
TCLEGSLESV SATCKQLSQE LMEKYEELKR MEAHNNEYKA EIKKLKEQIL
410 420 430 440 450
QGEQSYSSAL EGMKMEISHL TQELHQRDIT IASTKGSSSD MEKRLRAEMQ
460 470 480 490 500
KAEDKAVEHK EILDQLESLK LENRHLSEMV MKLELGLHEA KEISLADLQE
510 520 530 540 550
NYIEALNKLV SENQQLQKDL MNTKSQLEIS TQMCKKQNDR IFKPTHSRTT
560 570 580 590 600
EFKNTEFKPT HGQHRHDGIK TEHYKTDLHS PRGQASDSIN PMSRVLSPLS
610 620 630 640 650
PQISPCSSTR SLTSYSLCKT HSLPSALDTN EANFSDTMSE SMNDQEEFIS
660 670 680 690 700
SCSLPVSPLG SIATRFLEEE ELRSHHILER LDAHIEELKR ESEKTVRQFT

ALK
Length:703
Mass (Da):81,344
Last modified:December 1, 2001 - v1
Checksum:iD5406B75BB19B5D0
GO
Isoform 2 (identifier: Q96MT8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     490-651: Missing.

Show »
Length:541
Mass (Da):63,015
Checksum:iF4D363D9A3DBCF81
GO
Isoform 3 (identifier: Q96MT8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-651: Missing.

Show »
Length:495
Mass (Da):57,908
Checksum:iB03D8ECF77C790C4
GO
Isoform 4 (identifier: Q96MT8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-521: AKEISLADLQENYIEALNKLVSENQQLQKDLM → RWGFTMLSSLVLNFGIQAIRQPQRPKVLELQV
     522-703: Missing.

Show »
Length:475
Mass (Da):55,591
Checksum:i74DF3B1F93503B2D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti365 – 3651K → R in BAB14662. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti651 – 6511S → L.
Corresponds to variant rs1127826 [ dbSNP | Ensembl ].
VAR_020604

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei310 – 35546Missing in isoform 3 and isoform 4. 2 PublicationsVSP_012251Add
BLAST
Alternative sequencei490 – 651162Missing in isoform 2 and isoform 3. 2 PublicationsVSP_012252Add
BLAST
Alternative sequencei490 – 52132AKEIS…QKDLM → RWGFTMLSSLVLNFGIQAIR QPQRPKVLELQV in isoform 4. 1 PublicationVSP_012253Add
BLAST
Alternative sequencei522 – 703182Missing in isoform 4. 1 PublicationVSP_012254Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK023448 mRNA. Translation: BAB14578.1.
AK023738 mRNA. Translation: BAB14662.1.
AK056465 mRNA. Translation: BAB71192.1.
CH471052 Genomic DNA. Translation: EAW79136.1.
CH471052 Genomic DNA. Translation: EAW79137.1.
CH471052 Genomic DNA. Translation: EAW79138.1.
CH471052 Genomic DNA. Translation: EAW79139.1.
CH471052 Genomic DNA. Translation: EAW79140.1.
CH471052 Genomic DNA. Translation: EAW79141.1.
BC014050 mRNA. Translation: AAH14050.1.
BC068997 mRNA. Translation: AAH68997.1.
BK005503 mRNA. Translation: DAA05503.1.
CCDSiCCDS3086.1. [Q96MT8-1]
CCDS43152.1. [Q96MT8-4]
CCDS43153.1. [Q96MT8-2]
CCDS43154.1. [Q96MT8-3]
RefSeqiNP_001035842.1. NM_001042383.1. [Q96MT8-3]
NP_001035843.1. NM_001042384.1. [Q96MT8-4]
NP_001035859.1. NM_001042400.1. [Q96MT8-2]
NP_079456.2. NM_025180.3. [Q96MT8-1]
XP_005247854.1. XM_005247797.1. [Q96MT8-1]
XP_006713823.1. XM_006713760.1. [Q96MT8-1]
UniGeneiHs.443301.

Genome annotation databases

EnsembliENST00000332047; ENSP00000328382; ENSG00000182923. [Q96MT8-3]
ENST00000337090; ENSP00000336524; ENSG00000182923. [Q96MT8-1]
ENST00000354446; ENSP00000346432; ENSG00000182923. [Q96MT8-4]
ENST00000383229; ENSP00000372716; ENSG00000182923. [Q96MT8-2]
ENST00000513612; ENSP00000426129; ENSG00000182923. [Q96MT8-1]
ENST00000606977; ENSP00000475903; ENSG00000182923. [Q96MT8-1]
ENST00000620544; ENSP00000482219; ENSG00000182923. [Q96MT8-4]
GeneIDi80254.
KEGGihsa:80254.
UCSCiuc003eql.1. human. [Q96MT8-3]
uc003eqm.3. human. [Q96MT8-4]
uc003eqn.1. human. [Q96MT8-2]
uc003eqo.1. human. [Q96MT8-1]

Polymorphism databases

DMDMi56748851.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK023448 mRNA. Translation: BAB14578.1 .
AK023738 mRNA. Translation: BAB14662.1 .
AK056465 mRNA. Translation: BAB71192.1 .
CH471052 Genomic DNA. Translation: EAW79136.1 .
CH471052 Genomic DNA. Translation: EAW79137.1 .
CH471052 Genomic DNA. Translation: EAW79138.1 .
CH471052 Genomic DNA. Translation: EAW79139.1 .
CH471052 Genomic DNA. Translation: EAW79140.1 .
CH471052 Genomic DNA. Translation: EAW79141.1 .
BC014050 mRNA. Translation: AAH14050.1 .
BC068997 mRNA. Translation: AAH68997.1 .
BK005503 mRNA. Translation: DAA05503.1 .
CCDSi CCDS3086.1. [Q96MT8-1 ]
CCDS43152.1. [Q96MT8-4 ]
CCDS43153.1. [Q96MT8-2 ]
CCDS43154.1. [Q96MT8-3 ]
RefSeqi NP_001035842.1. NM_001042383.1. [Q96MT8-3 ]
NP_001035843.1. NM_001042384.1. [Q96MT8-4 ]
NP_001035859.1. NM_001042400.1. [Q96MT8-2 ]
NP_079456.2. NM_025180.3. [Q96MT8-1 ]
XP_005247854.1. XM_005247797.1. [Q96MT8-1 ]
XP_006713823.1. XM_006713760.1. [Q96MT8-1 ]
UniGenei Hs.443301.

3D structure databases

ProteinModelPortali Q96MT8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123200. 25 interactions.
DIPi DIP-36374N.
IntActi Q96MT8. 27 interactions.
MINTi MINT-1443653.
STRINGi 9606.ENSP00000336524.

PTM databases

PhosphoSitei Q96MT8.

Polymorphism databases

DMDMi 56748851.

Proteomic databases

MaxQBi Q96MT8.
PaxDbi Q96MT8.
PRIDEi Q96MT8.

Protocols and materials databases

DNASUi 80254.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000332047 ; ENSP00000328382 ; ENSG00000182923 . [Q96MT8-3 ]
ENST00000337090 ; ENSP00000336524 ; ENSG00000182923 . [Q96MT8-1 ]
ENST00000354446 ; ENSP00000346432 ; ENSG00000182923 . [Q96MT8-4 ]
ENST00000383229 ; ENSP00000372716 ; ENSG00000182923 . [Q96MT8-2 ]
ENST00000513612 ; ENSP00000426129 ; ENSG00000182923 . [Q96MT8-1 ]
ENST00000606977 ; ENSP00000475903 ; ENSG00000182923 . [Q96MT8-1 ]
ENST00000620544 ; ENSP00000482219 ; ENSG00000182923 . [Q96MT8-4 ]
GeneIDi 80254.
KEGGi hsa:80254.
UCSCi uc003eql.1. human. [Q96MT8-3 ]
uc003eqm.3. human. [Q96MT8-4 ]
uc003eqn.1. human. [Q96MT8-2 ]
uc003eqo.1. human. [Q96MT8-1 ]

Organism-specific databases

CTDi 80254.
GeneCardsi GC03P134204.
GeneReviewsi CEP63.
HGNCi HGNC:25815. CEP63.
HPAi HPA058154.
HPA058313.
MIMi 614724. gene.
614728. phenotype.
neXtProti NX_Q96MT8.
Orphaneti 2512. Autosomal recessive primary microcephaly.
PharmGKBi PA142672124.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG116818.
GeneTreei ENSGT00530000063797.
InParanoidi Q96MT8.
KOi K16763.
OMAi KNTEFKP.
OrthoDBi EOG71G9T8.
PhylomeDBi Q96MT8.
TreeFami TF330595.

Enzyme and pathway databases

Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Miscellaneous databases

ChiTaRSi CEP63. human.
GeneWikii CEP63.
GenomeRNAii 80254.
NextBioi 70695.
PROi Q96MT8.
SOURCEi Search...

Gene expression databases

Bgeei Q96MT8.
CleanExi HS_CEP63.
ExpressionAtlasi Q96MT8. baseline and differential.
Genevestigatori Q96MT8.

Family and domain databases

InterProi IPR029608. Cep63.
[Graphical view ]
PANTHERi PTHR18875:SF6. PTHR18875:SF6. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORMS 1; 2 AND 4).
    Tissue: Placenta and Teratocarcinoma.
  2. 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] (ISOFORMS 2 AND 3).
    Tissue: Pancreas.
  4. "Proteomic characterization of the human centrosome by protein correlation profiling."
    Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
    Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 3), SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Lymphoblast.
  5. "Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance."
    Loffler H., Fechter A., Matuszewska M., Saffrich R., Mistrik M., Marhold J., Hornung C., Westermann F., Bartek J., Kramer A.
    Cancer Res. 71:2129-2139(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CDK1 AND CDK2, SUBCELLULAR LOCATION.
  6. "A primary microcephaly protein complex forms a ring around parental centrioles."
    Sir J.H., Barr A.R., Nicholas A.K., Carvalho O.P., Khurshid M., Sossick A., Reichelt S., D'Santos C., Woods C.G., Gergely F.
    Nat. Genet. 43:1147-1153(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCKL6, FUNCTION, INTERACTION WITH CEP152, SUBCELLULAR LOCATION.
  7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCEP63_HUMAN
AccessioniPrimary (citable) accession number: Q96MT8
Secondary accession number(s): D3DND8
, D3DND9, D3DNE0, Q96CR0, Q9H8F5, Q9H8N0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 96 of the entry and version 1 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

Miscellaneous

CEP63 and CCDC67/DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, CCDC67/DEUP1 mediates de novo centriole amplification in multiciliated cells.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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