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Q9Y485 (DMXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DmX-like protein 1

Short name=X-like 1 protein
Gene names
Name:DMXL1
Synonyms:XL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3027 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Expressed in bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis, tonsils, placenta and uterus. Ref.1

Developmental stage

Expressed in whole embryo. Ref.1

Sequence similarities

Contains 16 WD repeats.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainRepeat
WD repeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 30273027DmX-like protein 1
PRO_0000223322

Regions

Repeat108 – 14538WD 1
Repeat166 – 20641WD 2
Repeat229 – 27749WD 3
Repeat476 – 51641WD 4
Repeat580 – 62142WD 5
Repeat628 – 66538WD 6
Repeat848 – 89548WD 7
Repeat968 – 101043WD 8
Repeat1134 – 117542WD 9
Repeat1211 – 125141WD 10
Repeat2742 – 278342WD 11
Repeat2785 – 282440WD 12
Repeat2836 – 287843WD 12
Repeat2884 – 292340WD 14
Repeat2926 – 296540WD 15
Repeat2978 – 301639WD 16
Compositional bias2459 – 246810Poly-Asp

Amino acid modifications

Modified residue3241Phosphoserine Ref.8
Modified residue4361Phosphoserine Ref.6 Ref.8
Modified residue9241Phosphoserine Ref.3
Modified residue19701Phosphoserine Ref.5 Ref.6 Ref.8

Natural variations

Natural variant2211I → M.
Corresponds to variant rs7700801 [ dbSNP | Ensembl ].
VAR_057589
Natural variant8511S → N.
Corresponds to variant rs4895362 [ dbSNP | Ensembl ].
VAR_057590
Natural variant20671V → M.
Corresponds to variant rs9790916 [ dbSNP | Ensembl ].
VAR_057591
Natural variant21071T → S.
Corresponds to variant rs9791092 [ dbSNP | Ensembl ].
VAR_057592

Experimental info

Sequence conflict21731P → L in CAA06718. Ref.1
Sequence conflict24531E → Z in CAA06718. Ref.1
Sequence conflict28761N → D in CAA06718. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9Y485 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 62E38BEC4AA71D29

FASTA3,027337,839
        10         20         30         40         50         60 
MNLHQVLTGA VNPGDHCFSV GSIGDQRFTA YASGCDIVIL GSDFERLQII PGAKHGNIQV 

        70         80         90        100        110        120 
GCVDCSMQQG KIAASYGNVI SIFEPVNLPK QKKNLELYSQ WQKSGQFFLE SIAHNITWDP 

       130        140        150        160        170        180 
TGSRLLTGSS YLQLWSNTNL EKPTEDENLN KTDLNFGDWK CIWHCKTASQ VHLMKFSPDG 

       190        200        210        220        230        240 
EFFATAGKDD CLLKVWYNVE NWRTAVTSPD GSSEKQSQGE IDFSFVYLAH PRAVNGFSWR 

       250        260        270        280        290        300 
KTSKYMPRAS VCNVLLTCCK DNVCRLWVET FLPNDCLLYG GDCSHWTESI NLTNNFKRNA 

       310        320        330        340        350        360 
SSKERVQNAL EVNLRHFRRG RRRSLALVAH TGYLPHQQDP HHVHRNTPLH ANALCHFHIA 

       370        380        390        400        410        420 
ASINPATDIP LLPSITSLSL NENEEKTGPF VVHWLNNKEL HFTLSMEVFL QQLRKSFEQP 

       430        440        450        460        470        480 
SSEASVEDSN QADVKSDEET DDGVDDLKIN PEKKELGCDK MVPNSSFTSL SSAAIDHQIE 

       490        500        510        520        530        540 
VLLSEWSKNA DMLFSIHPMD GSLLVWHVDW LDEYQPGMFR QVQVSFVSRI PVAFPTGDAN 

       550        560        570        580        590        600 
SLCKSIMMYA CTKNVDLAIQ QGKQKPSGLT RSTSMLISSG HNKSSNSLKL SIFTPNVMMI 

       610        620        630        640        650        660 
SKHADGSLNQ WLVSFAEESA FSTVLSISHK SRYCGHRFHL NDLACHSVLP LLLTTSHHNA 

       670        680        690        700        710        720 
LRTPDVDNPE QPFDALNIEE CSLTQQNKST VDVAFQDPSA VYSELILWRV DPVGPLSFSG 

       730        740        750        760        770        780 
GVSELARINS LHVSAFSNVA WLPTLIPSYC LGAYCNSPSA CFVASDGQYL RLYEAVIDAK 

       790        800        810        820        830        840 
KLLSELSNPE ISKYVGEVFN IVSQQSTARP GCIIALDPIT KLHGRKTQLL HVFEEDFILN 

       850        860        870        880        890        900 
NLEKKSLGKD SILSNAGSSP NGFSEKFYLI VIECTQDNRS LLHMWNLHLK SIPVSLDEKV 

       910        920        930        940        950        960 
DTKLSEAVWQ PEEHYSSSPE KILSPFSQKY QACRANLQST SRLTLFSEMV YSQELHLPEG 

       970        980        990       1000       1010       1020 
VEIISIKPSA GHLSSSSIYP ACSAPYLLAT SCSDEKVRFW RCRVTDGESA TSKNGKIDLA 

      1030       1040       1050       1060       1070       1080 
YIWEEWPLLI EDGLQSNSSI TVPGRPVEVS CAHTNRLAVA YKQPASNSRS SQDFVMHVSI 

      1090       1100       1110       1120       1130       1140 
FECESTGGSC WVLEQTIHLD ELSTVLDSGI SVDSNLVAYN KQDMYLSSKE NITSNTKHLV 

      1150       1160       1170       1180       1190       1200 
HLDWMSREDG SHILTVGIGS KLFMYGPLAG KVQDQTGKET LAFPLWESTK VVPLSKFVLL 

      1210       1220       1230       1240       1250       1260 
RSVDLVSSVD GSPPFPVSLS WVRDGILVVG MDCEMHVYCQ WQPSSKQEPV ITDSYSGSTP 

      1270       1280       1290       1300       1310       1320 
SITSLIKQSN SSSGLHPPKK TLTRSMTSLA QKICGKKTAF DPSVDMEDSG LFEAAHVLSP 

      1330       1340       1350       1360       1370       1380 
TLPQYHPLQL LELMDLGKVR RAKAILSHLV KCIAGEVVAL NEAESNHERR LRSLTISASG 

      1390       1400       1410       1420       1430       1440 
STTRDPQAFN KAENTDYTEI DSVPPLPLYA LLAADDDSCY SSLEKSSNES TLSKSNQLSK 

      1450       1460       1470       1480       1490       1500 
ESYDELFQTQ LLMTDTHMLE TDEENTKPRV IDLSQYSPTY FGPEHAQVLS GHLLHSSLPG 

      1510       1520       1530       1540       1550       1560 
LSRMEQMSLM ALADTIATTS TDIGESRDRS QGGETLDECG LKFLLAVRLH TFLTTSLPAY 

      1570       1580       1590       1600       1610       1620 
RAQLLHQGLS TSHFAWAFHS VAEEELLNML PAMQKDDPTW SELRAMGVGW WVRNTRILRK 

      1630       1640       1650       1660       1670       1680 
CIEKVAKAAF YRKNDPLDAA IFYLAMKKKA VIWGLYRAEK NTRMTQFFGH NFEDERWRKA 

      1690       1700       1710       1720       1730       1740 
ALKNAFSLLG KQRFEHSAAF FLLAGCLRDA IEVCLEKLND IQLALVIARL YESEFDTSAA 

      1750       1760       1770       1780       1790       1800 
YKSILRKKVL GIDSPVSELC SLNINMHHDP FLRSMAYWIL EDYSGALETL IKQPIRENDD 

      1810       1820       1830       1840       1850       1860 
QVLSASNPTV FNFYNYLRTH PLLLRRHFGS SDTFSTHMSL TGKSGLAGTI NLSERRLFFT 

      1870       1880       1890       1900       1910       1920 
TASAHLKAGC PMLALEVLSK MPKVIKKTRP FYRASSFLDT SKDCSPSSPL KLDAREDKSS 

      1930       1940       1950       1960       1970       1980 
AVDWSQSLIN GFGSSSEGSS EKQSNSTLSF DWSQPSVVFQ DDSLELKWDS DNDEENEDVP 

      1990       2000       2010       2020       2030       2040 
ISMKELKPLQ RKTDKKLDDI SSNYTESFST LDENDLLNPS EDIIAVQLKF RACLKILTVE 

      2050       2060       2070       2080       2090       2100 
LRTLSTGYEI DGGKLRYQLY HWLEKEVIAL QRTCDFCSDA EELQSAFGRN EDEFGLNEDA 

      2110       2120       2130       2140       2150       2160 
EDLPHQTKVK QLRENFQEKR QWLLKYQSLL RMFLSYCILH GSHGGGLASV RMELILLLQE 

      2170       2180       2190       2200       2210       2220 
SQQETSEPLF SSPLSEQTSV PLLFACTANA KTVVANPLLH LSNLTHDILH AIINFDSPPH 

      2230       2240       2250       2260       2270       2280 
PDIQSNKVYV MHTLAASLSA CIYQCLCGSH NYSSFQTNQF TGMVYQTVLL PHRPSLKTGS 

      2290       2300       2310       2320       2330       2340 
LDEALTPNTS PAQWPGITCL IRLLNSSGEE AQSGLTVLLC EILTAVYLSL FIHGLATHSS 

      2350       2360       2370       2380       2390       2400 
NELFRIVAHP LNEKMWSAVF GGGAHVPSKE QTHSKTLPVS SLVEEGEKQN KRFRPSKMSC 

      2410       2420       2430       2440       2450       2460 
RESAPLTPSS APVSQESLAV KEKFIPPELS IWDYFIAKPF LPSSQSRAEY DSEESLGSDD 

      2470       2480       2490       2500       2510       2520 
DDNDDDDDVL ASDFHLQEHS NSNSYSWSLM RLAMVQLVLN NLKTFYPFAG HDLAELPVSS 

      2530       2540       2550       2560       2570       2580 
PLCHAVLKTL QCWEQVLLRR LEIHGGPPQN YIASHTAEES LSAGPAILRH KALLEPTNTP 

      2590       2600       2610       2620       2630       2640 
FKSKHHLALS VKRLWQYLVK QEEIQETFIK NIFTKKRCLN EIEADLGYPG GKARIIHKES 

      2650       2660       2670       2680       2690       2700 
DIITAFAVNK ANRNCIAIAS SHDVQELDVS GILATQVYTW VDDDIEVETK GSEDFLVIHA 

      2710       2720       2730       2740       2750       2760 
RDDLTAVQGT TPYTHSNPGT PINMPWLGST QTGRGASVMI KKAINNVRRM TSHPTLPYYL 

      2770       2780       2790       2800       2810       2820 
TGAQDGSVRM FEWGHSQQIT CFRSGGNSRV TRMRFNYQGN KFGIVDADGY LSLYQTNWKC 

      2830       2840       2850       2860       2870       2880 
CPVTGSMPKP YLTWQCHNKT ANDFVFVSSS SLIATAGLST DNRNVCLWDT LVAPANSLVH 

      2890       2900       2910       2920       2930       2940 
AFTCHDSGAT VLAYAPKHQL LISGGRKGFT YVFDLCQRQQ RQLFQSHDSP VKAVAVDPTE 

      2950       2960       2970       2980       2990       3000 
EYFVTGSAEG NIKIWSLSTF GLLHTFVSEH ARQSIFRNIG TGVMQIETGP ANHIFSCGAD 

      3010       3020 
GTMKMRILPD QFSPLNEVLK NDVKFML 

« Hide

References

« Hide 'large scale' references
[1]"Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein."
Kraemer C., Enklaar T., Zabel B., Schmidt E.R.
Genomics 64:97-101(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
Tissue: Placenta.
[2]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-924, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[4]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"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-1970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[6]"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-436 AND SER-1970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-324; SER-436 AND SER-1970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ005821 mRNA. Translation: CAA06718.2.
AC027320 Genomic DNA. No translation available.
AC118465 Genomic DNA. No translation available.
CCDSCCDS4125.1.
RefSeqNP_001277250.1. NM_001290321.1.
NP_001277251.1. NM_001290322.1.
NP_005500.4. NM_005509.4.
UniGeneHs.181042.

3D structure databases

ProteinModelPortalQ9Y485.
SMRQ9Y485. Positions 167-194, 1140-1166, 2752-2816, 2877-2959.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108023. 2 interactions.
STRING9606.ENSP00000309690.

PTM databases

PhosphoSiteQ9Y485.

Polymorphism databases

DMDM296439372.

Proteomic databases

MaxQBQ9Y485.
PaxDbQ9Y485.
PRIDEQ9Y485.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311085; ENSP00000309690; ENSG00000172869.
GeneID1657.
KEGGhsa:1657.
UCSCuc003ksd.2. human.

Organism-specific databases

CTD1657.
GeneCardsGC05P118435.
H-InvDBHIX0024823.
HGNCHGNC:2937. DMXL1.
HPAHPA036431.
MIM605671. gene.
neXtProtNX_Q9Y485.
PharmGKBPA27391.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOVERGENHBG079593.
InParanoidQ9Y485.
PhylomeDBQ9Y485.
TreeFamTF312896.

Enzyme and pathway databases

SignaLinkQ9Y485.

Gene expression databases

ArrayExpressQ9Y485.
BgeeQ9Y485.
CleanExHS_DMXL1.
GenevestigatorQ9Y485.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
InterProIPR022033. Rav1p_C.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF12234. Rav1p_C. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
SMARTSM00320. WD40. 10 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
PROSITEPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi1657.
NextBio6824.
PROQ9Y485.
SOURCESearch...

Entry information

Entry nameDMXL1_HUMAN
AccessionPrimary (citable) accession number: Q9Y485
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM