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Q86WG5

- MTMRD_HUMAN

UniProt

Q86WG5 - MTMRD_HUMAN

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Protein
Myotubularin-related protein 13
Gene
SBF2, CMT4B2, KIAA1766, MTMR13
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.1 Publication

GO - Molecular functioni

  1. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
  2. phosphatase activity Source: InterPro
  3. phosphatase regulator activity Source: Ensembl
  4. phosphatidylinositol binding Source: Ensembl
  5. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. myelination Source: UniProtKB
  3. protein tetramerization Source: Ensembl
  4. regulation of Rab GTPase activity Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 13
Alternative name(s):
SET-binding factor 2
Gene namesi
Name:SBF2
Synonyms:CMT4B2, KIAA1766, MTMR13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:2135. SBF2.

Subcellular locationi

Cytoplasm. Membrane; Peripheral membrane protein
Note: Associated with membranes.1 Publication

GO - Cellular componenti

  1. membrane Source: UniProtKB
  2. vacuolar membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications

Keywords - Diseasei

Charcot-Marie-Tooth disease, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi604563. phenotype.
Orphaneti99956. Charcot-Marie-Tooth disease type 4B2.
PharmGKBiPA26649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 18491849Myotubularin-related protein 13
PRO_0000094945Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1127 – 11271Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ86WG5.
PaxDbiQ86WG5.
PRIDEiQ86WG5.

PTM databases

PhosphoSiteiQ86WG5.

Expressioni

Tissue specificityi

Widely expressed. Expressed in spinal cord.1 Publication

Gene expression databases

ArrayExpressiQ86WG5.
BgeeiQ86WG5.
GenevestigatoriQ86WG5.

Organism-specific databases

HPAiHPA050933.

Interactioni

Subunit structurei

Interacts with MTMR2.1 Publication

Protein-protein interaction databases

BioGridi123597. 3 interactions.
IntActiQ86WG5. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ86WG5.
SMRiQ86WG5. Positions 27-420, 1136-1584, 1746-1847.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 8669UDENN
Add
BLAST
Domaini116 – 298183DENN
Add
BLAST
Domaini351 – 42070dDENN
Add
BLAST
Domaini871 – 95787GRAM
Add
BLAST
Domaini1108 – 1584477Myotubularin phosphatase
Add
BLAST
Domaini1743 – 1847105PH
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1630 – 168354Interaction with MTMR2
Add
BLAST

Sequence similaritiesi

Contains 1 dDENN domain.
Contains 1 DENN domain.
Contains 1 GRAM domain.
Contains 1 PH domain.
Contains 1 uDENN domain.

Phylogenomic databases

eggNOGiNOG315534.
HOVERGENiHBG052527.
InParanoidiQ86WG5.
KOiK18061.
OMAiNRAILDH.
OrthoDBiEOG747PKH.
PhylomeDBiQ86WG5.
TreeFamiTF318583.

Family and domain databases

Gene3Di2.30.29.30. 2 hits.
InterProiIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF2.
IPR005113. uDENN_dom.
[Graphical view]
PfamiPF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
PF00169. PH. 1 hit.
PF12335. SBF2. 1 hit.
PF03456. uDENN. 1 hit.
[Graphical view]
SMARTiSM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00568. GRAM. 1 hit.
SM00233. PH. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 2 hits.
PROSITEiPS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86WG5-1) [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

MARLADYFIV VGYDHEKPGS GEGLGKIIQR FPQKDWDDTP FPQGIELFCQ     50
PGGWQLSRER KQPTFFVVVL TDIDSDRHYC SCLTFYEAEI NLQGTKKEEI 100
EGEAKVSGLI QPAEVFAPKS LVLVSRLYYP EIFRACLGLI YTVYVDSLNV 150
SLESLIANLC ACLVPAAGGS QKLFSLGAGD RQLIQTPLHD SLPITGTSVA 200
LLFQQLGIQN VLSLFCAVLT ENKVLFHSAS FQRLSDACRA LESLMFPLKY 250
SYPYIPILPA QLLEVLSSPT PFIIGVHSVF KTDVHELLDV IIADLDGGTI 300
KIPECIHLSS LPEPLLHQTQ SALSLILHPD LEVADHAFPP PRTALSHSKM 350
LDKEVRAVFL RLFAQLFQGY RSCLQLIRIH AEPVIHFHKT AFLGQRGLVE 400
NDFLTKVLSG MAFAGFVSER GPPYRSCDLF DELVAFEVER IKVEENNPVK 450
MIKHVRELAE QLFKNENPNP HMAFQKVPRP TEGSHLRVHI LPFPEINEAR 500
VQELIQENVA KNQNAPPATR IEKKCVVPAG PPVVSIMDKV TTVFNSAQRL 550
EVVRNCISFI FENKILETEK TLPAALRALK GKAARQCLTD ELGLHVQQNR 600
AILDHQQFDY IIRMMNCTLQ DCSSLEEYNI AAALLPLTSA FYRKLAPGVS 650
QFAYTCVQDH PIWTNQQFWE TTFYNAVQEQ VRSLYLSAKE DNHAPHLKQK 700
DKLPDDHYQE KTAMDLAAEQ LRLWPTLSKS TQQELVQHEE STVFSQAIHF 750
ANLMVNLLVP LDTSKNKLLR TSAPGDWESG SNSIVTNSIA GSVAESYDTE 800
SGFEDSENTD IANSVVRFIT RFIDKVCTES GVTQDHIKSL HCMIPGIVAM 850
HIETLEAVHR ESRRLPPIQK PKILRPALLP GEEIVCEGLR VLLDPDGREE 900
ATGGLLGGPQ LLPAEGALFL TTYRILFRGT PHDQLVGEQT VVRSFPIASI 950
TKEKKITMQN QLQQNMQEGL QITSASFQLI KVAFDEEVSP EVVEIFKKQL 1000
MKFRYPQSIF STFAFAAGQT TPQIILPKQK EKNTSFRTFS KTIVKGAKRA 1050
GKMTIGRQYL LKKKTGTIVE ERVNRPGWNE DDDVSVSDES ELPTSTTLKA 1100
SEKSTMEQLV EKACFRDYQR LGLGTISGSS SRSRPEYFRI TASNRMYSLC 1150
RSYPGLLVVP QAVQDSSLPR VARCYRHNRL PVVCWKNSRS GTLLLRSGGF 1200
HGKGVVGLFK SQNSPQAAPT SSLESSSSIE QEKYLQALLN AVSVHQKLRG 1250
NSTLTVRPAF ALSPGVWASL RSSTRLISSP TSFIDVGARL AGKDHSASFS 1300
NSSYLQNQLL KRQAALYIFG EKSQLRNFKV EFALNCEFVP VEFHEIRQVK 1350
ASFKKLMRAC IPSTIPTDSE VTFLKALGDS EWFPQLHRIM QLAVVVSEVL 1400
ENGSSVLVCL EEGWDITAQV TSLVQLLSDP FYRTLEGFQM LVEKEWLSFG 1450
HKFSQRSSLT LNCQGSGFAP VFLQFLDCVH QVHNQYPTEF EFNLYYLKFL 1500
AFHYVSNRFK TFLLDSDYER LEHGTLFDDK GEKHAKKGVC IWECIDRMHK 1550
RSPIFFNYLY SPLEIEALKP NVNVSSLKKW DYYIEETLST GPSYDWMMLT 1600
PKHFPSEDSD LAGEAGPRSQ RRTVWPCYDD VSCTQPDALT SLFSEIEKLE 1650
HKLNQAPEKW QQLWERVTVD LKEEPRTDRS QRHLSRSPGI VSTNLPSYQK 1700
RSLLHLPDSS MGEEQNSSIS PSNGVERRAA TLYSQYTSKN DENRSFEGTL 1750
YKRGALLKGW KPRWFVLDVT KHQLRYYDSG EDTSCKGHID LAEVEMVIPA 1800
GPSMGAPKHT SDKAFFDLKT SKRVYNFCAQ DGQSAQQWMD KIQSCISDA 1849
Length:1,849
Mass (Da):208,464
Last modified:June 1, 2003 - v1
Checksum:i9EDBA3E3AC05DD3E
GO
Isoform 3 (identifier: Q86WG5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1152-1152: S → R
     1153-1849: Missing.

Note: No experimental confirmation available.

Show »
Length:1,152
Mass (Da):129,344
Checksum:iAE52CCAFC9E5C70F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti303 – 3031P → L.
Corresponds to variant rs16907355 [ dbSNP | Ensembl ].
VAR_051766
Natural varianti679 – 6791E → K.
Corresponds to variant rs7102464 [ dbSNP | Ensembl ].
VAR_051767
Natural varianti1216 – 12161Q → E.1 Publication
Corresponds to variant rs12574508 [ dbSNP | Ensembl ].
VAR_051768

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1152 – 11521S → R in isoform 3.
VSP_017157
Alternative sequencei1153 – 1849697Missing in isoform 3.
VSP_017158Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1586 – 15861E → G in CAH18167. 1 Publication
Sequence conflicti1665 – 16651E → V in CAH18167. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY234241 mRNA. Translation: AAO62733.1.
BC011143 mRNA. Translation: AAH11143.1.
BC043389 mRNA. Translation: AAH43389.1.
BC053867 mRNA. Translation: AAH53867.1.
BC063656 mRNA. Translation: AAH63656.1.
BC101466 mRNA. Translation: AAI01467.1.
AB051553 mRNA. Translation: BAB21857.1.
BX538184 mRNA. Translation: CAD98056.1.
CR749312 mRNA. Translation: CAH18167.1.
CCDSiCCDS31427.1. [Q86WG5-1]
RefSeqiNP_112224.1. NM_030962.3. [Q86WG5-1]
UniGeneiHs.577252.

Genome annotation databases

EnsembliENST00000256190; ENSP00000256190; ENSG00000133812. [Q86WG5-1]
GeneIDi81846.
KEGGihsa:81846.
UCSCiuc001mib.2. human. [Q86WG5-1]
uc001mif.3. human. [Q86WG5-3]

Polymorphism databases

DMDMi74750502.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY234241 mRNA. Translation: AAO62733.1 .
BC011143 mRNA. Translation: AAH11143.1 .
BC043389 mRNA. Translation: AAH43389.1 .
BC053867 mRNA. Translation: AAH53867.1 .
BC063656 mRNA. Translation: AAH63656.1 .
BC101466 mRNA. Translation: AAI01467.1 .
AB051553 mRNA. Translation: BAB21857.1 .
BX538184 mRNA. Translation: CAD98056.1 .
CR749312 mRNA. Translation: CAH18167.1 .
CCDSi CCDS31427.1. [Q86WG5-1 ]
RefSeqi NP_112224.1. NM_030962.3. [Q86WG5-1 ]
UniGenei Hs.577252.

3D structure databases

ProteinModelPortali Q86WG5.
SMRi Q86WG5. Positions 27-420, 1136-1584, 1746-1847.
ModBasei Search...

Protein-protein interaction databases

BioGridi 123597. 3 interactions.
IntActi Q86WG5. 1 interaction.

PTM databases

PhosphoSitei Q86WG5.

Polymorphism databases

DMDMi 74750502.

Proteomic databases

MaxQBi Q86WG5.
PaxDbi Q86WG5.
PRIDEi Q86WG5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256190 ; ENSP00000256190 ; ENSG00000133812 . [Q86WG5-1 ]
GeneIDi 81846.
KEGGi hsa:81846.
UCSCi uc001mib.2. human. [Q86WG5-1 ]
uc001mif.3. human. [Q86WG5-3 ]

Organism-specific databases

CTDi 81846.
GeneCardsi GC11M009800.
GeneReviewsi SBF2.
HGNCi HGNC:2135. SBF2.
HPAi HPA050933.
MIMi 604563. phenotype.
607697. gene.
neXtProti NX_Q86WG5.
Orphaneti 99956. Charcot-Marie-Tooth disease type 4B2.
PharmGKBi PA26649.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315534.
HOVERGENi HBG052527.
InParanoidi Q86WG5.
KOi K18061.
OMAi NRAILDH.
OrthoDBi EOG747PKH.
PhylomeDBi Q86WG5.
TreeFami TF318583.

Miscellaneous databases

ChiTaRSi SBF2. human.
GeneWikii SBF2.
GenomeRNAii 81846.
NextBioi 72146.
PROi Q86WG5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86WG5.
Bgeei Q86WG5.
Genevestigatori Q86WG5.

Family and domain databases

Gene3Di 2.30.29.30. 2 hits.
InterProi IPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF2.
IPR005113. uDENN_dom.
[Graphical view ]
Pfami PF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
PF00169. PH. 1 hit.
PF12335. SBF2. 1 hit.
PF03456. uDENN. 1 hit.
[Graphical view ]
SMARTi SM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00568. GRAM. 1 hit.
SM00233. PH. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view ]
SUPFAMi SSF52799. SSF52799. 2 hits.
PROSITEi PS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15."
    Senderek J., Bergmann C., Weber S., Ketelsen U.-P., Schorle H., Rudnik-Schoeneborn S., Buettner R., Buchheim E., Zerres K.
    Hum. Mol. Genet. 12:349-356(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN CMT4B2, TISSUE SPECIFICITY.
    Tissue: Sciatic nerve.
  2. "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), VARIANT GLU-1216.
    Tissue: Brain, Cervix, Duodenum and Placenta.
  3. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
    DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-1152 (ISOFORM 3).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1849 (ISOFORM 1).
    Tissue: Fetal brain and Liver.
  5. "Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma."
    Azzedine H., Bolino A., Taieb T., Birouk N., Di Duca M., Bouhouche A., Benamou S., Mrabet A., Hammadouche T., Chkili T., Gouider R., Ravazzolo R., Brice A., Laporte J., LeGuern E.
    Am. J. Hum. Genet. 72:1141-1153(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CMT4B2.
  6. Cited for: INVOLVEMENT IN CMT4B2.
  7. Cited for: INVOLVEMENT IN CMT4B2.
  8. "The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease."
    Robinson F.L., Dixon J.E.
    J. Biol. Chem. 280:31699-31707(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MTMR2, SUBCELLULAR LOCATION.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
    Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
    J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1127, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiMTMRD_HUMAN
AccessioniPrimary (citable) accession number: Q86WG5
Secondary accession number(s): Q3MJF0
, Q68DQ3, Q6P459, Q6PJD1, Q7Z325, Q7Z621, Q86VE2, Q96FE2, Q9C097
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: June 1, 2003
Last modified: September 3, 2014
This is version 98 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 11
    Human chromosome 11: 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

Similar proteinsi