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Protein

DmX-like protein 2

Gene

DMXL2

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

Functioni

May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).By similarity1 Publication

GO - Molecular functioni

  • Rab GTPase binding Source: MGI
Complete GO annotation...

Enzyme and pathway databases

SignaLinkiQ8TDJ6.

Names & Taxonomyi

Protein namesi
Recommended name:
DmX-like protein 2
Alternative name(s):
Rabconnectin-3
Gene namesi
Name:DMXL2
Synonyms:KIAA0856
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:2938. DMXL2.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • extracellular space Source: UniProtKB
  • synaptic vesicle Source: MGI
  • synaptic vesicle membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Polyendocrine-polyneuropathy syndrome (PEPNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs.
See also OMIM:616113
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1942 – 19465Missing in PEPNS. 1 Publication
VAR_072642

Keywords - Diseasei

Diabetes mellitus, Disease mutation, Hypogonadotropic hypogonadism, Neuropathy

Organism-specific databases

MalaCardsiDMXL2.
MIMi616113. phenotype.
PharmGKBiPA27392.

Polymorphism and mutation databases

BioMutaiDMXL2.
DMDMi296434481.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 30363036DmX-like protein 2PRO_0000223324Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei326 – 3261PhosphoserineBy similarity
Modified residuei473 – 4731PhosphoserineCombined sources
Modified residuei588 – 5881PhosphoserineBy similarity
Modified residuei944 – 9441PhosphoserineCombined sources
Modified residuei945 – 9451PhosphoserineCombined sources
Modified residuei1140 – 11401PhosphoserineCombined sources
Modified residuei1143 – 11431PhosphoserineCombined sources
Modified residuei1151 – 11511PhosphoserineCombined sources
Modified residuei1287 – 12871PhosphoserineBy similarity
Modified residuei1400 – 14001PhosphoserineCombined sources
Modified residuei1417 – 14171PhosphothreonineBy similarity
Modified residuei1857 – 18571PhosphoserineCombined sources
Modified residuei1984 – 19841PhosphoserineCombined sources
Modified residuei2022 – 20221PhosphothreonineBy similarity
Modified residuei2399 – 23991PhosphoserineCombined sources
Modified residuei2640 – 26401PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TDJ6.
MaxQBiQ8TDJ6.
PaxDbiQ8TDJ6.
PeptideAtlasiQ8TDJ6.
PRIDEiQ8TDJ6.

PTM databases

iPTMnetiQ8TDJ6.
PhosphoSiteiQ8TDJ6.

Expressioni

Gene expression databases

BgeeiQ8TDJ6.
CleanExiHS_DMXL2.
ExpressionAtlasiQ8TDJ6. baseline and differential.
GenevisibleiQ8TDJ6. HS.

Organism-specific databases

HPAiHPA039375.

Interactioni

Subunit structurei

Interacts with MADD and RAB3GAP.1 Publication

GO - Molecular functioni

  • Rab GTPase binding Source: MGI

Protein-protein interaction databases

BioGridi116903. 13 interactions.
IntActiQ8TDJ6. 2 interactions.
STRINGi9606.ENSP00000441858.

Structurei

3D structure databases

ProteinModelPortaliQ8TDJ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati108 – 14538WD 1Add
BLAST
Repeati167 – 20741WD 2Add
BLAST
Repeati230 – 27849WD 3Add
BLAST
Repeati492 – 53241WD 4Add
BLAST
Repeati595 – 63440WD 5Add
BLAST
Repeati751 – 80353WD 6Add
BLAST
Repeati878 – 92043WD 7Add
BLAST
Repeati1000 – 103738WD 8Add
BLAST
Repeati1163 – 120442WD 9Add
BLAST
Repeati1244 – 128138WD 10Add
BLAST
Repeati2761 – 280040WD 11Add
BLAST
Repeati2804 – 284340WD 12Add
BLAST
Repeati2850 – 289243WD 13Add
BLAST
Repeati2898 – 293740WD 14Add
BLAST
Repeati2940 – 297940WD 15Add
BLAST
Repeati2992 – 303039WD 16Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili2122 – 215332Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 16 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1064. Eukaryota.
ENOG410XPUM. LUCA.
GeneTreeiENSGT00390000000096.
HOGENOMiHOG000018348.
HOVERGENiHBG079593.
InParanoidiQ8TDJ6.
OMAiKEIAAMH.
OrthoDBiEOG7QZG8R.
PhylomeDBiQ8TDJ6.
TreeFamiTF312896.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR022033. Rav1p_C.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12234. Rav1p_C. 2 hits.
PF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 13 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDJ6-1) [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
MHLHQVLTGA VNPGDNCYSV GSVGDVPFTA YGSGCDIVIL ANDFECVQII
60 70 80 90 100
PGAKHGNIQV SCVECSNQQG RIAASYGNAV CIFEPLGINS HKRNCQLKCQ
110 120 130 140 150
WLKTGQFFLS SVTYNLAWDP QDNRLLTATD SIQLWAPPGD DILEEEEEID
160 170 180 190 200
NTVPPVLNDW KCVWQCKTSV SVHLMEWSPD GEYFATAGKD DCLLKVWYPM
210 220 230 240 250
TGWKSSIIPQ DHHEVKRRQS STQFSFVYLA HPRAVTGFSW RKTSKYMPRG
260 270 280 290 300
SVCNVLLTSC HDGVCRLWAE TLLPEDCLLG EQICETTTSS IASSLSHAGR
310 320 330 340 350
HKDRIQHALE TIHHLKNLRK GQRRSSVLVT HAELMPDQTA MHEVQRHISH
360 370 380 390 400
HANALCHFHI AASINPATDI PNVLVGTAFN VDDGNGGFVV HWLNNKEFHF
410 420 430 440 450
TSSTEVFMHQ LRKLSDKQVD HENDDADRED EEHSQEDRER GLHMKLDHDL
460 470 480 490 500
SLDRESEAGT GSSEHEDGER EGSPRTYSRL SVPMPLPTVL LDRKIETLLT
510 520 530 540 550
EWNKNPDMLF TIHPVDGTFL VWHVKYLDEY NPGIFRQVQV SFSSRIPVAF
560 570 580 590 600
PSGDASSLSK NIMMYACINA TKDSHHTLLH QEGMSVGSPH GSQPHSRSHS
610 620 630 640 650
THMNILAPTV MMISKHIDGS LNQWAVTFAD KSAFTTVLTV SHKFRYCGHR
660 670 680 690 700
FHLNDLACHS VLPLLLTSSH HNALLTPELD CQWDSDNKLS RLMDPVKHIK
710 720 730 740 750
GSSKQPLRNA ATRTFHDPNA IYSELILWRV DPIGPLSYTG GVSELARINS
760 770 780 790 800
LHTSAFSNVA WLPTLIPSYC LGTYCNSASA CFVASDGKNL RLYQAVVDAR
810 820 830 840 850
KLLDELSDPE SSKLIGEVFN IVSQQSTARP GCIIELDAIT NQCGSNTQLL
860 870 880 890 900
HVFQEDFIIG YKPHKEDMEK KETEIFFQPS QGYRPPPFSE KFFLVVIEKD
910 920 930 940 950
SNNNSILHMW HLHLKSVQAC LAKASEGASS ESLLSVPGQK NVDSSPETSP
960 970 980 990 1000
SVSPMPHSSS IANLQTASKL ILSSRLVYSQ PLDLPESVEV IRATPSAGHL
1010 1020 1030 1040 1050
SSSSIYPVCL APYLVVTTCS DNKVRFWKCC MEANPECNKS DEKEIYHWKR
1060 1070 1080 1090 1100
WPLMNDEGED NSSTVSIVGR PVAVSCSYTG RLAVAYKQPI HHNGFVSKEF
1110 1120 1130 1140 1150
SMHVCIFECE STGGSEWVLE QTIHLDDLVK VGSVLDSRVS VDSNLFVYSK
1160 1170 1180 1190 1200
SDALLSKDRY LIPNIKHLVH LDWVSKEDGS HILTVGVGAN IFMYGRLSGI
1210 1220 1230 1240 1250
VTEQTNSKDG VAVITLPLGG SIKQGVKSRW VLLRSIDLVS SVDGTPSLPV
1260 1270 1280 1290 1300
SLSWVRDGIL VVGMDCEMHV YAQWKHAVKF GDTEADSSNA EEAAMQDHST
1310 1320 1330 1340 1350
FKSNMLARKS VVEGTAISDD VFCSPTVIQD GGLFEAAHVL SPTLPQYHPT
1360 1370 1380 1390 1400
QLLELMDLGK VRRAKAILSH LVKCIAGEVA IVRDPDAGEG TKRHLSRTIS
1410 1420 1430 1440 1450
VSGSTAKETV TVGKDGTRDY TEIDSIPPLP LYALLAADQD TSYRISEEST
1460 1470 1480 1490 1500
KIPQSYEDQT VSQPEDQYSE LFQIQDIPTD DIDLEPEKRE NKSKVINLSQ
1510 1520 1530 1540 1550
YGPAYFGQEH ARVLSSHLMH SSLPGLTRLE QMFLVALADT VATTSTELDE
1560 1570 1580 1590 1600
SRDKSCSGRD TLDECGLRYL LAMRLHTCLL TSLPPLYRVQ LLHQGVSTCH
1610 1620 1630 1640 1650
FAWAFHSEAE EELINMIPAI QRGDPQWSEL RAMGIGWWVR NINTLRRCIE
1660 1670 1680 1690 1700
KVAKASFQRN NDALDAALFY LSMKKKAVVW GLFRSQHDEK MTTFFSHNFN
1710 1720 1730 1740 1750
EDRWRKAALK NAFSLLGKQR FEQSAAFFLL AGSLKDAIEV CLEKMEDIQL
1760 1770 1780 1790 1800
AMVIARLYES EFETSSTYIS ILNQKILGCQ KDGSGFSCKR LHPDPFLRSL
1810 1820 1830 1840 1850
AYWVMKDYTR ALDTLLEQTP KEDDEHQVII KSCNPVAFSF YNYLRTHPLL
1860 1870 1880 1890 1900
IRRNLASPEG TLATLGLKTE KNFVDKINLI ERKLFFTTAN AHFKVGCPVL
1910 1920 1930 1940 1950
ALEVLSKIPK VTKTSALSAK KDQPDFISHR MDDVPSHSKA LSDGNGSSGI
1960 1970 1980 1990 2000
EWSNVTSSQY DWSQPIVKVD EEPLNLDWGE DHDSALDEEE DDAVGLVMKS
2010 2020 2030 2040 2050
TDAREKDKQS DQKASDPNML LTPQEEDDPE GDTEVDVIAE QLKFRACLKI
2060 2070 2080 2090 2100
LMTELRTLAT GYEVDGGKLR FQLYNWLEKE IAALHEICNH ESVIKEYSSK
2110 2120 2130 2140 2150
TYSKVESDLL DQEEMVDKPD IGSYERHQIE RRRLQAKREH AERRKSWLQK
2160 2170 2180 2190 2200
NQDLLRVFLS YCSLHGAQGG GLASVRMELK FLLQESQQET TVKQLQSPLP
2210 2220 2230 2240 2250
LPTTLPLLSA SIASTKTVIA NPVLYLNNHI HDILYTIVQM KTPPHPSIED
2260 2270 2280 2290 2300
VKVHTLHSLA ASLSASIYQA LCDSHSYSQT EGNQFTGMAY QGLLLSDRRR
2310 2320 2330 2340 2350
LRTESIEEHA TPNSSPAQWP GVSSLINLLS SAQDEDQPKL NILLCEAVVA
2360 2370 2380 2390 2400
VYLSLLIHAL ATNSSSELFR LAAHPLNNRM WAAVFGGGVK LVVKPRRQSE
2410 2420 2430 2440 2450
NISAPPVLSE DIDKHRRRFN MRMLVPGRPV KDATPPPVPA ERPSYKEKFI
2460 2470 2480 2490 2500
PPELSMWDYF VAKPFLPLSD SGVIYDSDES IHSDEEDDAF FSDTQIQEHQ
2510 2520 2530 2540 2550
DPNSYSWALL HLTMVKLALH NVKNFFPIAG LEFSELPVTS PLGIAVIKNL
2560 2570 2580 2590 2600
ENWEQILQEK MDQFEGPPPN YINTYPTDLS VGAGPAILRN KAMLEPENTP
2610 2620 2630 2640 2650
FKSRDSSAFP VKRLWHFLVK QEVLQETFIR YIFTKKRKQS EVEADLGYPG
2660 2670 2680 2690 2700
GKAKVIHKES DMIMAFSVNK ANCNEIVLAS THDVQELDVT SLLACQSYIW
2710 2720 2730 2740 2750
IGEEYDRESK SSDDVDYRGS TTTLYQPSAT SYSASQVHPP SSLPWLGTGQ
2760 2770 2780 2790 2800
TSTGASVLMK RNLHNVKRMT SHPVHQYYLT GAQDGSVRMF EWTRPQQLVC
2810 2820 2830 2840 2850
FRQAGNARVT RLYFNSQGNK CGVADGEGFL SIWQVNQTAS NPKPYMSWQC
2860 2870 2880 2890 2900
HSKATSDFAF ITSSSLVATS GHSNDNRNVC LWDTLISPGN SLIHGFTCHD
2910 2920 2930 2940 2950
HGATVLQYAP KQQLLISGGR KGHVCIFDIR QRQLIHTFQA HDSAIKALAL
2960 2970 2980 2990 3000
DPYEEYFTTG SAEGNIKVWR LTGHGLIHSF KSEHAKQSIF RNIGAGVMQI
3010 3020 3030
DIIQGNRLFS CGADGTLKTR VLPNAFNIPN RILDIL
Length:3,036
Mass (Da):339,641
Last modified:May 18, 2010 - v2
Checksum:i25E9B1D05C69882C
GO
Isoform 2 (identifier: Q8TDJ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-1557: Missing.

Note: No experimental confirmation available.
Show »
Length:2,400
Mass (Da):270,148
Checksum:iB068FEAABF9030D4
GO
Isoform 3 (identifier: Q8TDJ6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2278-2278: S → SS

Note: No experimental confirmation available.
Show »
Length:3,037
Mass (Da):339,729
Checksum:i8FB825BB044FAC82
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti128 – 1281A → T in AAL93215 (PubMed:11809763).Curated
Sequence conflicti974 – 9741S → F in AAL93215 (PubMed:11809763).Curated
Sequence conflicti2984 – 29841H → Y in AAL93215 (PubMed:11809763).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti144 – 1441E → Q.
Corresponds to variant rs35097381 [ dbSNP | Ensembl ].
VAR_062094
Natural varianti497 – 4971T → M.
Corresponds to variant rs17524906 [ dbSNP | Ensembl ].
VAR_057593
Natural varianti903 – 9031N → D.
Corresponds to variant rs16953073 [ dbSNP | Ensembl ].
VAR_057594
Natural varianti1288 – 12881S → P.2 Publications
Corresponds to variant rs12102203 [ dbSNP | Ensembl ].
VAR_057595
Natural varianti1481 – 14811D → G.
Corresponds to variant rs35349640 [ dbSNP | Ensembl ].
VAR_057596
Natural varianti1698 – 16981N → S.1 Publication
Corresponds to variant rs149028181 [ dbSNP | Ensembl ].
VAR_069028
Natural varianti1942 – 19465Missing in PEPNS. 1 Publication
VAR_072642

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei922 – 1557636Missing in isoform 2. 1 PublicationVSP_043015Add
BLAST
Alternative sequencei2278 – 22781S → SS in isoform 3. 2 PublicationsVSP_044977

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF389880 mRNA. Translation: AAL93215.1.
AB020663 mRNA. Translation: BAA74879.2.
AC020892 Genomic DNA. No translation available.
AC066613 Genomic DNA. No translation available.
BC140781 mRNA. Translation: AAI40782.1.
BC144539 mRNA. Translation: AAI44540.1.
CCDSiCCDS10141.1. [Q8TDJ6-1]
CCDS53945.1. [Q8TDJ6-2]
CCDS53946.1. [Q8TDJ6-3]
RefSeqiNP_001167587.1. NM_001174116.1. [Q8TDJ6-3]
NP_001167588.1. NM_001174117.1. [Q8TDJ6-2]
NP_056078.2. NM_015263.3. [Q8TDJ6-1]
UniGeneiHs.511386.

Genome annotation databases

EnsembliENST00000251076; ENSP00000251076; ENSG00000104093. [Q8TDJ6-1]
ENST00000449909; ENSP00000400855; ENSG00000104093. [Q8TDJ6-2]
ENST00000543779; ENSP00000441858; ENSG00000104093. [Q8TDJ6-3]
GeneIDi23312.
KEGGihsa:23312.
UCSCiuc002abf.4. human. [Q8TDJ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF389880 mRNA. Translation: AAL93215.1.
AB020663 mRNA. Translation: BAA74879.2.
AC020892 Genomic DNA. No translation available.
AC066613 Genomic DNA. No translation available.
BC140781 mRNA. Translation: AAI40782.1.
BC144539 mRNA. Translation: AAI44540.1.
CCDSiCCDS10141.1. [Q8TDJ6-1]
CCDS53945.1. [Q8TDJ6-2]
CCDS53946.1. [Q8TDJ6-3]
RefSeqiNP_001167587.1. NM_001174116.1. [Q8TDJ6-3]
NP_001167588.1. NM_001174117.1. [Q8TDJ6-2]
NP_056078.2. NM_015263.3. [Q8TDJ6-1]
UniGeneiHs.511386.

3D structure databases

ProteinModelPortaliQ8TDJ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116903. 13 interactions.
IntActiQ8TDJ6. 2 interactions.
STRINGi9606.ENSP00000441858.

PTM databases

iPTMnetiQ8TDJ6.
PhosphoSiteiQ8TDJ6.

Polymorphism and mutation databases

BioMutaiDMXL2.
DMDMi296434481.

Proteomic databases

EPDiQ8TDJ6.
MaxQBiQ8TDJ6.
PaxDbiQ8TDJ6.
PeptideAtlasiQ8TDJ6.
PRIDEiQ8TDJ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251076; ENSP00000251076; ENSG00000104093. [Q8TDJ6-1]
ENST00000449909; ENSP00000400855; ENSG00000104093. [Q8TDJ6-2]
ENST00000543779; ENSP00000441858; ENSG00000104093. [Q8TDJ6-3]
GeneIDi23312.
KEGGihsa:23312.
UCSCiuc002abf.4. human. [Q8TDJ6-1]

Organism-specific databases

CTDi23312.
GeneCardsiDMXL2.
H-InvDBHIX0012246.
HIX0172819.
HGNCiHGNC:2938. DMXL2.
HPAiHPA039375.
MalaCardsiDMXL2.
MIMi612186. gene.
616113. phenotype.
neXtProtiNX_Q8TDJ6.
PharmGKBiPA27392.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1064. Eukaryota.
ENOG410XPUM. LUCA.
GeneTreeiENSGT00390000000096.
HOGENOMiHOG000018348.
HOVERGENiHBG079593.
InParanoidiQ8TDJ6.
OMAiKEIAAMH.
OrthoDBiEOG7QZG8R.
PhylomeDBiQ8TDJ6.
TreeFamiTF312896.

Enzyme and pathway databases

SignaLinkiQ8TDJ6.

Miscellaneous databases

ChiTaRSiDMXL2. human.
GenomeRNAii23312.
PROiQ8TDJ6.
SOURCEiSearch...

Gene expression databases

BgeeiQ8TDJ6.
CleanExiHS_DMXL2.
ExpressionAtlasiQ8TDJ6. baseline and differential.
GenevisibleiQ8TDJ6. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR022033. Rav1p_C.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12234. Rav1p_C. 2 hits.
PF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 13 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family."
    Nagano F., Kawabe H., Nakanishi H., Shinohara M., Deguchi-Tawarada M., Takeuchi M., Sasaki T., Takai Y.
    J. Biol. Chem. 277:9629-9632(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 526-540; 789-800; 814-829; 924-938; 1790-1795; 2069-2079 AND 2449-2463, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MADD AND RAB3GAP.
  2. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 801-3036 (ISOFORM 3), VARIANT PRO-1288.
    Tissue: Brain.
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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), VARIANTS PRO-1288 AND SER-1698.
    Tissue: Brain.
  6. "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry."
    Brill L.M., Salomon A.R., Ficarro S.B., Mukherji M., Stettler-Gill M., Peters E.C.
    Anal. Chem. 76:2763-2772(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1857, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-944; SER-945; SER-1400 AND SER-1857, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-944; SER-945; SER-1140; SER-1143 AND SER-1984, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "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-1857, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473; SER-1151; SER-1857 AND SER-2399, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma and Erythroleukemia.
  12. "Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse."
    Tata B., Huijbregts L., Jacquier S., Csaba Z., Genin E., Meyer V., Leka S., Dupont J., Charles P., Chevenne D., Carel J.C., Leger J., de Roux N.
    PLoS Biol. 12:E1001952-E1001952(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PEPNS, VARIANT PEPNS 1942-SER--GLY-1946 DEL.

Entry informationi

Entry nameiDMXL2_HUMAN
AccessioniPrimary (citable) accession number: Q8TDJ6
Secondary accession number(s): B2RTR3
, B7ZMH3, F5GWF1, O94938
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 124 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.