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Q86WG5

- MTMRD_HUMAN

UniProt

Q86WG5 - MTMRD_HUMAN

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Protein

Myotubularin-related protein 13

Gene

SBF2

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. phosphatase activity Source: InterPro
  2. phosphatase regulator activity Source: Ensembl
  3. phosphatidylinositol binding Source: Ensembl
  4. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. myelination Source: UniProtKB
  3. positive regulation of Rab GTPase activity Source: GOC
  4. protein tetramerization Source: Ensembl
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 1 Publication. Membrane 1 Publication; Peripheral membrane protein 1 Publication
Note: Associated with membranes.

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 CMT4.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

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 13PRO_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

BgeeiQ86WG5.
ExpressionAtlasiQ86WG5. baseline and differential.
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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 8669UDENNAdd
BLAST
Domaini116 – 298183DENNPROSITE-ProRule annotationAdd
BLAST
Domaini351 – 42070dDENNPROSITE-ProRule annotationAdd
BLAST
Domaini871 – 95787GRAMAdd
BLAST
Domaini1108 – 1584477Myotubularin phosphatasePROSITE-ProRule annotationAdd
BLAST
Domaini1743 – 1847105PHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1630 – 168354Interaction with MTMR2Add
BLAST

Sequence similaritiesi

Contains 1 dDENN domain.PROSITE-ProRule annotation
Contains 1 DENN domain.PROSITE-ProRule annotation
Contains 1 GRAM domain.Curated
Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 uDENN domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG315534.
GeneTreeiENSGT00760000118819.
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

        10         20         30         40         50
MARLADYFIV VGYDHEKPGS GEGLGKIIQR FPQKDWDDTP FPQGIELFCQ
60 70 80 90 100
PGGWQLSRER KQPTFFVVVL TDIDSDRHYC SCLTFYEAEI NLQGTKKEEI
110 120 130 140 150
EGEAKVSGLI QPAEVFAPKS LVLVSRLYYP EIFRACLGLI YTVYVDSLNV
160 170 180 190 200
SLESLIANLC ACLVPAAGGS QKLFSLGAGD RQLIQTPLHD SLPITGTSVA
210 220 230 240 250
LLFQQLGIQN VLSLFCAVLT ENKVLFHSAS FQRLSDACRA LESLMFPLKY
260 270 280 290 300
SYPYIPILPA QLLEVLSSPT PFIIGVHSVF KTDVHELLDV IIADLDGGTI
310 320 330 340 350
KIPECIHLSS LPEPLLHQTQ SALSLILHPD LEVADHAFPP PRTALSHSKM
360 370 380 390 400
LDKEVRAVFL RLFAQLFQGY RSCLQLIRIH AEPVIHFHKT AFLGQRGLVE
410 420 430 440 450
NDFLTKVLSG MAFAGFVSER GPPYRSCDLF DELVAFEVER IKVEENNPVK
460 470 480 490 500
MIKHVRELAE QLFKNENPNP HMAFQKVPRP TEGSHLRVHI LPFPEINEAR
510 520 530 540 550
VQELIQENVA KNQNAPPATR IEKKCVVPAG PPVVSIMDKV TTVFNSAQRL
560 570 580 590 600
EVVRNCISFI FENKILETEK TLPAALRALK GKAARQCLTD ELGLHVQQNR
610 620 630 640 650
AILDHQQFDY IIRMMNCTLQ DCSSLEEYNI AAALLPLTSA FYRKLAPGVS
660 670 680 690 700
QFAYTCVQDH PIWTNQQFWE TTFYNAVQEQ VRSLYLSAKE DNHAPHLKQK
710 720 730 740 750
DKLPDDHYQE KTAMDLAAEQ LRLWPTLSKS TQQELVQHEE STVFSQAIHF
760 770 780 790 800
ANLMVNLLVP LDTSKNKLLR TSAPGDWESG SNSIVTNSIA GSVAESYDTE
810 820 830 840 850
SGFEDSENTD IANSVVRFIT RFIDKVCTES GVTQDHIKSL HCMIPGIVAM
860 870 880 890 900
HIETLEAVHR ESRRLPPIQK PKILRPALLP GEEIVCEGLR VLLDPDGREE
910 920 930 940 950
ATGGLLGGPQ LLPAEGALFL TTYRILFRGT PHDQLVGEQT VVRSFPIASI
960 970 980 990 1000
TKEKKITMQN QLQQNMQEGL QITSASFQLI KVAFDEEVSP EVVEIFKKQL
1010 1020 1030 1040 1050
MKFRYPQSIF STFAFAAGQT TPQIILPKQK EKNTSFRTFS KTIVKGAKRA
1060 1070 1080 1090 1100
GKMTIGRQYL LKKKTGTIVE ERVNRPGWNE DDDVSVSDES ELPTSTTLKA
1110 1120 1130 1140 1150
SEKSTMEQLV EKACFRDYQR LGLGTISGSS SRSRPEYFRI TASNRMYSLC
1160 1170 1180 1190 1200
RSYPGLLVVP QAVQDSSLPR VARCYRHNRL PVVCWKNSRS GTLLLRSGGF
1210 1220 1230 1240 1250
HGKGVVGLFK SQNSPQAAPT SSLESSSSIE QEKYLQALLN AVSVHQKLRG
1260 1270 1280 1290 1300
NSTLTVRPAF ALSPGVWASL RSSTRLISSP TSFIDVGARL AGKDHSASFS
1310 1320 1330 1340 1350
NSSYLQNQLL KRQAALYIFG EKSQLRNFKV EFALNCEFVP VEFHEIRQVK
1360 1370 1380 1390 1400
ASFKKLMRAC IPSTIPTDSE VTFLKALGDS EWFPQLHRIM QLAVVVSEVL
1410 1420 1430 1440 1450
ENGSSVLVCL EEGWDITAQV TSLVQLLSDP FYRTLEGFQM LVEKEWLSFG
1460 1470 1480 1490 1500
HKFSQRSSLT LNCQGSGFAP VFLQFLDCVH QVHNQYPTEF EFNLYYLKFL
1510 1520 1530 1540 1550
AFHYVSNRFK TFLLDSDYER LEHGTLFDDK GEKHAKKGVC IWECIDRMHK
1560 1570 1580 1590 1600
RSPIFFNYLY SPLEIEALKP NVNVSSLKKW DYYIEETLST GPSYDWMMLT
1610 1620 1630 1640 1650
PKHFPSEDSD LAGEAGPRSQ RRTVWPCYDD VSCTQPDALT SLFSEIEKLE
1660 1670 1680 1690 1700
HKLNQAPEKW QQLWERVTVD LKEEPRTDRS QRHLSRSPGI VSTNLPSYQK
1710 1720 1730 1740 1750
RSLLHLPDSS MGEEQNSSIS PSNGVERRAA TLYSQYTSKN DENRSFEGTL
1760 1770 1780 1790 1800
YKRGALLKGW KPRWFVLDVT KHQLRYYDSG EDTSCKGHID LAEVEMVIPA
1810 1820 1830 1840
GPSMGAPKHT SDKAFFDLKT SKRVYNFCAQ DGQSAQQWMD KIQSCISDA
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1586 – 15861E → G in CAH18167. (PubMed:17974005)Curated
Sequence conflicti1665 – 16651E → V in CAH18167. (PubMed:17974005)Curated

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. 1 PublicationVSP_017157
Alternative sequencei1153 – 1849697Missing in isoform 3. 1 PublicationVSP_017158Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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...
MobiDBi 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.
GeneTreei ENSGT00760000118819.
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

Bgeei Q86WG5.
ExpressionAtlasi Q86WG5. baseline and differential.
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: November 26, 2014
This is version 101 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