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Q9Y485

- DMXL1_HUMAN

UniProt

Q9Y485 - DMXL1_HUMAN

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Protein

DmX-like protein 1

Gene
DMXL1, XL1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

SignaLinkiQ9Y485.

Names & Taxonomyi

Protein namesi
Recommended name:
DmX-like protein 1
Short name:
X-like 1 protein
Gene namesi
Name:DMXL1
Synonyms:XL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:2937. DMXL1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27391.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 30273027DmX-like protein 1PRO_0000223322Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei324 – 3241Phosphoserine1 Publication
Modified residuei436 – 4361Phosphoserine2 Publications
Modified residuei924 – 9241Phosphoserine1 Publication
Modified residuei1970 – 19701Phosphoserine3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9Y485.
PaxDbiQ9Y485.
PRIDEiQ9Y485.

PTM databases

PhosphoSiteiQ9Y485.

Expressioni

Tissue specificityi

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

Developmental stagei

Expressed in whole embryo.1 Publication

Gene expression databases

ArrayExpressiQ9Y485.
BgeeiQ9Y485.
CleanExiHS_DMXL1.
GenevestigatoriQ9Y485.

Organism-specific databases

HPAiHPA036431.

Interactioni

Protein-protein interaction databases

BioGridi108023. 2 interactions.
STRINGi9606.ENSP00000309690.

Structurei

3D structure databases

ProteinModelPortaliQ9Y485.
SMRiQ9Y485. Positions 167-194, 1140-1166, 2752-2816, 2877-2959.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati108 – 14538WD 1Add
BLAST
Repeati166 – 20641WD 2Add
BLAST
Repeati229 – 27749WD 3Add
BLAST
Repeati476 – 51641WD 4Add
BLAST
Repeati580 – 62142WD 5Add
BLAST
Repeati628 – 66538WD 6Add
BLAST
Repeati848 – 89548WD 7Add
BLAST
Repeati968 – 101043WD 8Add
BLAST
Repeati1134 – 117542WD 9Add
BLAST
Repeati1211 – 125141WD 10Add
BLAST
Repeati2742 – 278342WD 11Add
BLAST
Repeati2785 – 282440WD 12Add
BLAST
Repeati2836 – 287843WD 12Add
BLAST
Repeati2884 – 292340WD 14Add
BLAST
Repeati2926 – 296540WD 15Add
BLAST
Repeati2978 – 301639WD 16Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2459 – 246810Poly-Asp

Sequence similaritiesi

Contains 16 WD repeats.

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
HOVERGENiHBG079593.
InParanoidiQ9Y485.
PhylomeDBiQ9Y485.
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. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
SMARTiSM00320. WD40. 10 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y485-1 [UniParc]FASTAAdd to Basket

« Hide

MNLHQVLTGA VNPGDHCFSV GSIGDQRFTA YASGCDIVIL GSDFERLQII     50
PGAKHGNIQV GCVDCSMQQG KIAASYGNVI SIFEPVNLPK QKKNLELYSQ 100
WQKSGQFFLE SIAHNITWDP TGSRLLTGSS YLQLWSNTNL EKPTEDENLN 150
KTDLNFGDWK CIWHCKTASQ VHLMKFSPDG EFFATAGKDD CLLKVWYNVE 200
NWRTAVTSPD GSSEKQSQGE IDFSFVYLAH PRAVNGFSWR KTSKYMPRAS 250
VCNVLLTCCK DNVCRLWVET FLPNDCLLYG GDCSHWTESI NLTNNFKRNA 300
SSKERVQNAL EVNLRHFRRG RRRSLALVAH TGYLPHQQDP HHVHRNTPLH 350
ANALCHFHIA ASINPATDIP LLPSITSLSL NENEEKTGPF VVHWLNNKEL 400
HFTLSMEVFL QQLRKSFEQP SSEASVEDSN QADVKSDEET DDGVDDLKIN 450
PEKKELGCDK MVPNSSFTSL SSAAIDHQIE VLLSEWSKNA DMLFSIHPMD 500
GSLLVWHVDW LDEYQPGMFR QVQVSFVSRI PVAFPTGDAN SLCKSIMMYA 550
CTKNVDLAIQ QGKQKPSGLT RSTSMLISSG HNKSSNSLKL SIFTPNVMMI 600
SKHADGSLNQ WLVSFAEESA FSTVLSISHK SRYCGHRFHL NDLACHSVLP 650
LLLTTSHHNA LRTPDVDNPE QPFDALNIEE CSLTQQNKST VDVAFQDPSA 700
VYSELILWRV DPVGPLSFSG GVSELARINS LHVSAFSNVA WLPTLIPSYC 750
LGAYCNSPSA CFVASDGQYL RLYEAVIDAK KLLSELSNPE ISKYVGEVFN 800
IVSQQSTARP GCIIALDPIT KLHGRKTQLL HVFEEDFILN NLEKKSLGKD 850
SILSNAGSSP NGFSEKFYLI VIECTQDNRS LLHMWNLHLK SIPVSLDEKV 900
DTKLSEAVWQ PEEHYSSSPE KILSPFSQKY QACRANLQST SRLTLFSEMV 950
YSQELHLPEG VEIISIKPSA GHLSSSSIYP ACSAPYLLAT SCSDEKVRFW 1000
RCRVTDGESA TSKNGKIDLA YIWEEWPLLI EDGLQSNSSI TVPGRPVEVS 1050
CAHTNRLAVA YKQPASNSRS SQDFVMHVSI FECESTGGSC WVLEQTIHLD 1100
ELSTVLDSGI SVDSNLVAYN KQDMYLSSKE NITSNTKHLV HLDWMSREDG 1150
SHILTVGIGS KLFMYGPLAG KVQDQTGKET LAFPLWESTK VVPLSKFVLL 1200
RSVDLVSSVD GSPPFPVSLS WVRDGILVVG MDCEMHVYCQ WQPSSKQEPV 1250
ITDSYSGSTP SITSLIKQSN SSSGLHPPKK TLTRSMTSLA QKICGKKTAF 1300
DPSVDMEDSG LFEAAHVLSP TLPQYHPLQL LELMDLGKVR RAKAILSHLV 1350
KCIAGEVVAL NEAESNHERR LRSLTISASG STTRDPQAFN KAENTDYTEI 1400
DSVPPLPLYA LLAADDDSCY SSLEKSSNES TLSKSNQLSK ESYDELFQTQ 1450
LLMTDTHMLE TDEENTKPRV IDLSQYSPTY FGPEHAQVLS GHLLHSSLPG 1500
LSRMEQMSLM ALADTIATTS TDIGESRDRS QGGETLDECG LKFLLAVRLH 1550
TFLTTSLPAY RAQLLHQGLS TSHFAWAFHS VAEEELLNML PAMQKDDPTW 1600
SELRAMGVGW WVRNTRILRK CIEKVAKAAF YRKNDPLDAA IFYLAMKKKA 1650
VIWGLYRAEK NTRMTQFFGH NFEDERWRKA ALKNAFSLLG KQRFEHSAAF 1700
FLLAGCLRDA IEVCLEKLND IQLALVIARL YESEFDTSAA YKSILRKKVL 1750
GIDSPVSELC SLNINMHHDP FLRSMAYWIL EDYSGALETL IKQPIRENDD 1800
QVLSASNPTV FNFYNYLRTH PLLLRRHFGS SDTFSTHMSL TGKSGLAGTI 1850
NLSERRLFFT TASAHLKAGC PMLALEVLSK MPKVIKKTRP FYRASSFLDT 1900
SKDCSPSSPL KLDAREDKSS AVDWSQSLIN GFGSSSEGSS EKQSNSTLSF 1950
DWSQPSVVFQ DDSLELKWDS DNDEENEDVP ISMKELKPLQ RKTDKKLDDI 2000
SSNYTESFST LDENDLLNPS EDIIAVQLKF RACLKILTVE LRTLSTGYEI 2050
DGGKLRYQLY HWLEKEVIAL QRTCDFCSDA EELQSAFGRN EDEFGLNEDA 2100
EDLPHQTKVK QLRENFQEKR QWLLKYQSLL RMFLSYCILH GSHGGGLASV 2150
RMELILLLQE SQQETSEPLF SSPLSEQTSV PLLFACTANA KTVVANPLLH 2200
LSNLTHDILH AIINFDSPPH PDIQSNKVYV MHTLAASLSA CIYQCLCGSH 2250
NYSSFQTNQF TGMVYQTVLL PHRPSLKTGS LDEALTPNTS PAQWPGITCL 2300
IRLLNSSGEE AQSGLTVLLC EILTAVYLSL FIHGLATHSS NELFRIVAHP 2350
LNEKMWSAVF GGGAHVPSKE QTHSKTLPVS SLVEEGEKQN KRFRPSKMSC 2400
RESAPLTPSS APVSQESLAV KEKFIPPELS IWDYFIAKPF LPSSQSRAEY 2450
DSEESLGSDD DDNDDDDDVL ASDFHLQEHS NSNSYSWSLM RLAMVQLVLN 2500
NLKTFYPFAG HDLAELPVSS PLCHAVLKTL QCWEQVLLRR LEIHGGPPQN 2550
YIASHTAEES LSAGPAILRH KALLEPTNTP FKSKHHLALS VKRLWQYLVK 2600
QEEIQETFIK NIFTKKRCLN EIEADLGYPG GKARIIHKES DIITAFAVNK 2650
ANRNCIAIAS SHDVQELDVS GILATQVYTW VDDDIEVETK GSEDFLVIHA 2700
RDDLTAVQGT TPYTHSNPGT PINMPWLGST QTGRGASVMI KKAINNVRRM 2750
TSHPTLPYYL TGAQDGSVRM FEWGHSQQIT CFRSGGNSRV TRMRFNYQGN 2800
KFGIVDADGY LSLYQTNWKC CPVTGSMPKP YLTWQCHNKT ANDFVFVSSS 2850
SLIATAGLST DNRNVCLWDT LVAPANSLVH AFTCHDSGAT VLAYAPKHQL 2900
LISGGRKGFT YVFDLCQRQQ RQLFQSHDSP VKAVAVDPTE EYFVTGSAEG 2950
NIKIWSLSTF GLLHTFVSEH ARQSIFRNIG TGVMQIETGP ANHIFSCGAD 3000
GTMKMRILPD QFSPLNEVLK NDVKFML 3027
Length:3,027
Mass (Da):337,839
Last modified:May 18, 2010 - v3
Checksum:i62E38BEC4AA71D29
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti221 – 2211I → M.
Corresponds to variant rs7700801 [ dbSNP | Ensembl ].
VAR_057589
Natural varianti851 – 8511S → N.
Corresponds to variant rs4895362 [ dbSNP | Ensembl ].
VAR_057590
Natural varianti2067 – 20671V → M.
Corresponds to variant rs9790916 [ dbSNP | Ensembl ].
VAR_057591
Natural varianti2107 – 21071T → S.
Corresponds to variant rs9791092 [ dbSNP | Ensembl ].
VAR_057592

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2173 – 21731P → L in CAA06718. 1 Publication
Sequence conflicti2453 – 24531E → Z in CAA06718. 1 Publication
Sequence conflicti2876 – 28761N → D in CAA06718. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ005821 mRNA. Translation: CAA06718.2.
AC027320 Genomic DNA. No translation available.
AC118465 Genomic DNA. No translation available.
CCDSiCCDS4125.1.
RefSeqiNP_001277250.1. NM_001290321.1.
NP_001277251.1. NM_001290322.1.
NP_005500.4. NM_005509.4.
UniGeneiHs.181042.

Genome annotation databases

EnsembliENST00000311085; ENSP00000309690; ENSG00000172869.
GeneIDi1657.
KEGGihsa:1657.
UCSCiuc003ksd.2. human.

Polymorphism databases

DMDMi296439372.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ005821 mRNA. Translation: CAA06718.2 .
AC027320 Genomic DNA. No translation available.
AC118465 Genomic DNA. No translation available.
CCDSi CCDS4125.1.
RefSeqi NP_001277250.1. NM_001290321.1.
NP_001277251.1. NM_001290322.1.
NP_005500.4. NM_005509.4.
UniGenei Hs.181042.

3D structure databases

ProteinModelPortali Q9Y485.
SMRi Q9Y485. Positions 167-194, 1140-1166, 2752-2816, 2877-2959.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108023. 2 interactions.
STRINGi 9606.ENSP00000309690.

PTM databases

PhosphoSitei Q9Y485.

Polymorphism databases

DMDMi 296439372.

Proteomic databases

MaxQBi Q9Y485.
PaxDbi Q9Y485.
PRIDEi Q9Y485.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311085 ; ENSP00000309690 ; ENSG00000172869 .
GeneIDi 1657.
KEGGi hsa:1657.
UCSCi uc003ksd.2. human.

Organism-specific databases

CTDi 1657.
GeneCardsi GC05P118435.
H-InvDB HIX0024823.
HGNCi HGNC:2937. DMXL1.
HPAi HPA036431.
MIMi 605671. gene.
neXtProti NX_Q9Y485.
PharmGKBi PA27391.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
HOVERGENi HBG079593.
InParanoidi Q9Y485.
PhylomeDBi Q9Y485.
TreeFami TF312896.

Enzyme and pathway databases

SignaLinki Q9Y485.

Miscellaneous databases

GenomeRNAii 1657.
NextBioi 6824.
PROi Q9Y485.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y485.
Bgeei Q9Y485.
CleanExi HS_DMXL1.
Genevestigatori Q9Y485.

Family and domain databases

Gene3Di 2.130.10.10. 2 hits.
InterProi IPR022033. Rav1p_C.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF12234. Rav1p_C. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view ]
SMARTi SM00320. WD40. 10 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 2 hits.
PROSITEi PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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].

Entry informationi

Entry nameiDMXL1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y485
Entry historyi
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 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 5
    Human chromosome 5: 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

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