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Q7RTW8

- OTOAN_HUMAN

UniProt

Q7RTW8 - OTOAN_HUMAN

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Protein

Otoancorin

Gene

OTOA

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

Functioni

May act as an adhesion molecule.

GO - Biological processi

  1. cell-matrix adhesion Source: Ensembl
  2. sensory perception of sound Source: UniProtKB-KW
  3. transmission of nerve impulse Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Otoancorin
Gene namesi
Name:OTOA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:16378. OTOA.

Subcellular locationi

Apical cell membrane Curated; Lipid-anchorGPI-anchor Curated; Extracellular side Curated. Secretedextracellular spaceextracellular matrix Curated
Note: At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes.By similarity

GO - Cellular componenti

  1. anchored component of membrane Source: UniProtKB-KW
  2. apical plasma membrane Source: Ensembl
  3. proteinaceous extracellular matrix Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 22 (DFNB22) [MIM:607039]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MIMi607039. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA38403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence AnalysisAdd
BLAST
Chaini23 – 11301108OtoancorinPRO_0000021971Add
BLAST
Propeptidei1131 – 115323Removed in mature formSequence AnalysisPRO_0000021972Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi211 – 2111N-linked (GlcNAc...) (complex)1 Publication
Glycosylationi244 – 2441N-linked (GlcNAc...)Sequence Analysis
Glycosylationi289 – 2891N-linked (GlcNAc...)Sequence Analysis
Glycosylationi321 – 3211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi394 – 3941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi398 – 3981N-linked (GlcNAc...)Sequence Analysis
Glycosylationi460 – 4601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi544 – 5441N-linked (GlcNAc...)Sequence Analysis
Glycosylationi812 – 8121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi911 – 9111N-linked (GlcNAc...)Sequence Analysis
Glycosylationi974 – 9741N-linked (GlcNAc...)Sequence Analysis
Lipidationi1130 – 11301GPI-anchor amidated alanineSequence Analysis

Keywords - PTMi

Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ7RTW8.
PRIDEiQ7RTW8.

PTM databases

PhosphoSiteiQ7RTW8.

Expressioni

Gene expression databases

BgeeiQ7RTW8.
CleanExiHS_OTOA.
ExpressionAtlasiQ7RTW8. baseline.
GenevestigatoriQ7RTW8.

Organism-specific databases

HPAiHPA041405.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000373610.

Structurei

3D structure databases

ProteinModelPortaliQ7RTW8.
SMRiQ7RTW8. Positions 401-446, 577-622.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the stereocilin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG27847.
GeneTreeiENSGT00530000063809.
HOGENOMiHOG000065777.
HOVERGENiHBG053381.
InParanoidiQ7RTW8.
OMAiNLWILGR.
OrthoDBiEOG79GT8H.
PhylomeDBiQ7RTW8.
TreeFamiTF336607.

Family and domain databases

InterProiIPR026663. Otoancorin.
IPR026664. Stereocilin_related.
[Graphical view]
PANTHERiPTHR23412. PTHR23412. 1 hit.
PTHR23412:SF14. PTHR23412:SF14. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

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

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7RTW8-1) [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
MSQEPTTYSL FLFLFLSHGV SSYTVPNSRQ DLHPLLQNMA EEIIDGSYLN
60 70 80 90 100
ALLDLIQFQS SHVWTDDLSH RVLAYLNSRN VAFTIPSLQA AVENHLEQRL
110 120 130 140 150
HQPQKLLEDL RKTDAQQFRT AMKCLLEDKK DGLDLKDIII DLGEIRERAL
160 170 180 190 200
QSPGVNRSLF LITLERCFQM LNSLECVEIL GKVLRGSSGS FLQPDITERL
210 220 230 240 250
PRDLREDAFK NLSAVFKDLY DKTSAHSQRA LYSWMTGILQ TSSNATDDSA
260 270 280 290 300
SWVSAEHLWV LGRYMVHLSF EEITKISPIE IGLFISYDNA TKQLDMVYDI
310 320 330 340 350
TPELAQAFLE RISSSNFNMR NTSTIHRQAH ELWALEPFPK MLGLLVCFYN
360 370 380 390 400
DLELLDATVA QVLLYQMIKC SHLRGFQAGV QKLKAELLDI AMENQTLNET
410 420 430 440 450
LGSLSDAVVG LTYSQLESLS PEAVHGAIST LNQVSGWAKS QVIILSAKYL
460 470 480 490 500
AHEKVLSFYN VSQMGALLAG VSTQAFCSMK RKDISQVLRS AVSQYVSDLS
510 520 530 540 550
PAQQQGILSK MVQAEDTAPG IVEIQGAFFK EVSLFDLRRQ PGFNSTVLKD
560 570 580 590 600
KELGRSQALF LYELLLKTTR RPEELLSAGQ LVKGVTCSHI DAMSTDFFLA
610 620 630 640 650
HFQDFQNNFA LLSPYQVNCL AWKYWEVSRL SMPPFLLAAL PARYLASVPA
660 670 680 690 700
SQCVPFLISL GKSWLDSLVL DSHKKTSVLR KVQQCLDDSI ADEYTVDIMG
710 720 730 740 750
NLLCHLPAAI IDRGISPRAW ATALHGLRDC PDLNPEQKAA VRLKLLGQYG
760 770 780 790 800
LPQHWTAETT KDLGPFLVLF SGDELSSIAT KFPEILLQAA SKMARTLPTK
810 820 830 840 850
EFLWAVFQSV RNSSDKIPSY DPMPGCHGVV APSSDDIFKL AEANACWALE
860 870 880 890 900
DLRCMEEDTF IRTVELLGAV QGFSRPQLMT LKEKAIQVWD MPSYWREHHI
910 920 930 940 950
VSLGRIALAL NESELEQLDL SSIDTVASLS WQTEWTPGQA ESILQGYLDD
960 970 980 990 1000
SGYSIQDLKS FHLVGLGATL CAINITEIPL IKISEFRVVV ARIGTLLCST
1010 1020 1030 1040 1050
HVLAEFKRKA EVVFGDPTEW TSSVLQELGT IAAGLTKAEL RMLDKDLMPY
1060 1070 1080 1090 1100
FQPSAIKCLP DEIFKELSAE QIASLGPENA AAVTHAQRRR LSPLQLQSLQ
1110 1120 1130 1140 1150
QALDGAKTHS WQDAPASAGP TRTSSSRSPA GALQSWGLWL GCPLLVLMAK

LLW
Length:1,153
Mass (Da):128,533
Last modified:December 15, 2003 - v1
Checksum:iD23E5767718021D7
GO
Isoform 2 (identifier: Q7RTW8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-338: Missing.
     339-341: PKM → MFR

Show »
Length:815
Mass (Da):89,914
Checksum:iA8EFF6FA5850C894
GO
Isoform 3 (identifier: Q7RTW8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-728: Missing.
     729-750: DCPDLNPEQKAAVRLKLLGQYG → MNVCKDSPRNKVNQKSKVMEKK

Show »
Length:425
Mass (Da):46,980
Checksum:iA17635E55BA47451
GO
Isoform 4 (identifier: Q7RTW8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MSQEPTTYS → MGNSITYRD
     10-88: Missing.
     328-341: Missing.

Note: No experimental confirmation available.

Show »
Length:1,060
Mass (Da):117,880
Checksum:i816E440E9023D5D9
GO
Isoform 5 (identifier: Q7RTW8-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-341: Missing.

Note: No experimental confirmation available.

Show »
Length:1,139
Mass (Da):126,854
Checksum:i3B8E705089670E8C
GO

Sequence cautioni

The sequence AK057335 differs from that shown. Reason: Frameshift at position 1139. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1039 – 10391E → A in AAI29994. (PubMed:15489334)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 728728Missing in isoform 3. 1 PublicationVSP_012211Add
BLAST
Alternative sequencei1 – 338338Missing in isoform 2. 1 PublicationVSP_012212Add
BLAST
Alternative sequencei1 – 99MSQEPTTYS → MGNSITYRD in isoform 4. 1 PublicationVSP_043345
Alternative sequencei10 – 8879Missing in isoform 4. 1 PublicationVSP_043346Add
BLAST
Alternative sequencei328 – 34114Missing in isoform 4 and isoform 5. 2 PublicationsVSP_043347Add
BLAST
Alternative sequencei339 – 3413PKM → MFR in isoform 2. 1 PublicationVSP_012213
Alternative sequencei729 – 75022DCPDL…LGQYG → MNVCKDSPRNKVNQKSKVME KK in isoform 3. 1 PublicationVSP_012214Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057335 mRNA. No translation available.
AK093062 mRNA. Translation: BAC04040.1.
AK125840 mRNA. Translation: BAG54255.1.
AC092719 Genomic DNA. No translation available.
BC129992 mRNA. Translation: AAI29993.1.
BC129993 mRNA. Translation: AAI29994.1.
BK000099 Genomic DNA. Translation: DAA00022.1.
CCDSiCCDS10600.2. [Q7RTW8-5]
CCDS32403.1. [Q7RTW8-2]
CCDS53994.1. [Q7RTW8-4]
RefSeqiNP_001155155.1. NM_001161683.1. [Q7RTW8-4]
NP_733764.1. NM_170664.2. [Q7RTW8-2]
UniGeneiHs.408336.

Genome annotation databases

EnsembliENST00000286149; ENSP00000286149; ENSG00000155719. [Q7RTW8-1]
ENST00000388956; ENSP00000373608; ENSG00000155719. [Q7RTW8-4]
ENST00000388957; ENSP00000373609; ENSG00000155719. [Q7RTW8-2]
ENST00000388958; ENSP00000373610; ENSG00000155719. [Q7RTW8-5]
GeneIDi146183.
KEGGihsa:146183.
UCSCiuc002dji.3. human. [Q7RTW8-2]
uc002dlh.3. human. [Q7RTW8-3]
uc010vbj.2. human. [Q7RTW8-4]
uc010vbk.2. human. [Q7RTW8-1]

Polymorphism databases

DMDMi56404568.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057335 mRNA. No translation available.
AK093062 mRNA. Translation: BAC04040.1 .
AK125840 mRNA. Translation: BAG54255.1 .
AC092719 Genomic DNA. No translation available.
BC129992 mRNA. Translation: AAI29993.1 .
BC129993 mRNA. Translation: AAI29994.1 .
BK000099 Genomic DNA. Translation: DAA00022.1 .
CCDSi CCDS10600.2. [Q7RTW8-5 ]
CCDS32403.1. [Q7RTW8-2 ]
CCDS53994.1. [Q7RTW8-4 ]
RefSeqi NP_001155155.1. NM_001161683.1. [Q7RTW8-4 ]
NP_733764.1. NM_170664.2. [Q7RTW8-2 ]
UniGenei Hs.408336.

3D structure databases

ProteinModelPortali Q7RTW8.
SMRi Q7RTW8. Positions 401-446, 577-622.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000373610.

PTM databases

PhosphoSitei Q7RTW8.

Polymorphism databases

DMDMi 56404568.

Proteomic databases

PaxDbi Q7RTW8.
PRIDEi Q7RTW8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000286149 ; ENSP00000286149 ; ENSG00000155719 . [Q7RTW8-1 ]
ENST00000388956 ; ENSP00000373608 ; ENSG00000155719 . [Q7RTW8-4 ]
ENST00000388957 ; ENSP00000373609 ; ENSG00000155719 . [Q7RTW8-2 ]
ENST00000388958 ; ENSP00000373610 ; ENSG00000155719 . [Q7RTW8-5 ]
GeneIDi 146183.
KEGGi hsa:146183.
UCSCi uc002dji.3. human. [Q7RTW8-2 ]
uc002dlh.3. human. [Q7RTW8-3 ]
uc010vbj.2. human. [Q7RTW8-4 ]
uc010vbk.2. human. [Q7RTW8-1 ]

Organism-specific databases

CTDi 146183.
GeneCardsi GC16P021689.
GeneReviewsi OTOA.
HGNCi HGNC:16378. OTOA.
HPAi HPA041405.
MIMi 607038. gene.
607039. phenotype.
neXtProti NX_Q7RTW8.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA38403.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27847.
GeneTreei ENSGT00530000063809.
HOGENOMi HOG000065777.
HOVERGENi HBG053381.
InParanoidi Q7RTW8.
OMAi NLWILGR.
OrthoDBi EOG79GT8H.
PhylomeDBi Q7RTW8.
TreeFami TF336607.

Miscellaneous databases

GenomeRNAii 146183.
NextBioi 35460528.
PROi Q7RTW8.
SOURCEi Search...

Gene expression databases

Bgeei Q7RTW8.
CleanExi HS_OTOA.
ExpressionAtlasi Q7RTW8. baseline.
Genevestigatori Q7RTW8.

Family and domain databases

InterProi IPR026663. Otoancorin.
IPR026664. Stereocilin_related.
[Graphical view ]
PANTHERi PTHR23412. PTHR23412. 1 hit.
PTHR23412:SF14. PTHR23412:SF14. 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 2; 3 AND 4).
    Tissue: Testis.
  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.
    , 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 5).
  4. "Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22."
    Zwaenepoel I., Mustapha M., Leibovici M., Verpy E., Goodyear R., Liu X.Z., Nouaille S., Nance W.E., Kanaan M., Avraham K.B., Tekaia F., Loiselet J., Lathrop M., Richardson G., Petit C.
    Proc. Natl. Acad. Sci. U.S.A. 99:6240-6245(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 1), INVOLVEMENT IN DFNB22.
  5. Cited for: GLYCOSYLATION AT ASN-211.

Entry informationi

Entry nameiOTOAN_HUMAN
AccessioniPrimary (citable) accession number: Q7RTW8
Secondary accession number(s): A1L3A8
, A2VDI0, B3KWU3, E9PF51, Q8NA86, Q96M76
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 15, 2003
Last modified: October 29, 2014
This is version 105 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3