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Protein

DmX-like protein 1

Gene

DMXL1

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

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172869-MONOMER.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:2937. DMXL1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi1657.
OpenTargetsiENSG00000172869.
PharmGKBiPA27391.

Polymorphism and mutation databases

BioMutaiDMXL1.
DMDMi296439372.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002233221 – 3027DmX-like protein 1Add BLAST3027

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei324PhosphoserineCombined sources1
Modified residuei422PhosphoserineBy similarity1
Modified residuei425PhosphoserineBy similarity1
Modified residuei436PhosphoserineCombined sources1
Modified residuei574PhosphoserineBy similarity1
Modified residuei918PhosphoserineCombined sources1
Modified residuei924PhosphoserineCombined sources1
Modified residuei1830PhosphoserineCombined sources1
Modified residuei1896PhosphoserineCombined sources1
Modified residuei1908PhosphoserineCombined sources1
Modified residuei1970PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y485.
MaxQBiQ9Y485.
PaxDbiQ9Y485.
PeptideAtlasiQ9Y485.
PRIDEiQ9Y485.

PTM databases

iPTMnetiQ9Y485.
PhosphoSitePlusiQ9Y485.

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

BgeeiENSG00000172869.
CleanExiHS_DMXL1.
ExpressionAtlasiQ9Y485. baseline and differential.
GenevisibleiQ9Y485. HS.

Organism-specific databases

HPAiHPA036431.
HPA036432.

Interactioni

Protein-protein interaction databases

BioGridi108023. 6 interactors.
IntActiQ9Y485. 2 interactors.
STRINGi9606.ENSP00000309690.

Structurei

3D structure databases

ProteinModelPortaliQ9Y485.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati108 – 145WD 1Add BLAST38
Repeati166 – 206WD 2Add BLAST41
Repeati229 – 277WD 3Add BLAST49
Repeati476 – 516WD 4Add BLAST41
Repeati580 – 621WD 5Add BLAST42
Repeati628 – 665WD 6Add BLAST38
Repeati848 – 895WD 7Add BLAST48
Repeati968 – 1010WD 8Add BLAST43
Repeati1134 – 1175WD 9Add BLAST42
Repeati1211 – 1251WD 10Add BLAST41
Repeati2742 – 2783WD 11Add BLAST42
Repeati2785 – 2824WD 12Add BLAST40
Repeati2836 – 2878WD 12Add BLAST43
Repeati2884 – 2923WD 14Add BLAST40
Repeati2926 – 2965WD 15Add BLAST40
Repeati2978 – 3016WD 16Add BLAST39

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2459 – 2468Poly-Asp10

Sequence similaritiesi

Contains 16 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1064. Eukaryota.
ENOG410XPUM. LUCA.
GeneTreeiENSGT00390000000096.
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. 2 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

        10         20         30         40         50
MNLHQVLTGA VNPGDHCFSV GSIGDQRFTA YASGCDIVIL GSDFERLQII
60 70 80 90 100
PGAKHGNIQV GCVDCSMQQG KIAASYGNVI SIFEPVNLPK QKKNLELYSQ
110 120 130 140 150
WQKSGQFFLE SIAHNITWDP TGSRLLTGSS YLQLWSNTNL EKPTEDENLN
160 170 180 190 200
KTDLNFGDWK CIWHCKTASQ VHLMKFSPDG EFFATAGKDD CLLKVWYNVE
210 220 230 240 250
NWRTAVTSPD GSSEKQSQGE IDFSFVYLAH PRAVNGFSWR KTSKYMPRAS
260 270 280 290 300
VCNVLLTCCK DNVCRLWVET FLPNDCLLYG GDCSHWTESI NLTNNFKRNA
310 320 330 340 350
SSKERVQNAL EVNLRHFRRG RRRSLALVAH TGYLPHQQDP HHVHRNTPLH
360 370 380 390 400
ANALCHFHIA ASINPATDIP LLPSITSLSL NENEEKTGPF VVHWLNNKEL
410 420 430 440 450
HFTLSMEVFL QQLRKSFEQP SSEASVEDSN QADVKSDEET DDGVDDLKIN
460 470 480 490 500
PEKKELGCDK MVPNSSFTSL SSAAIDHQIE VLLSEWSKNA DMLFSIHPMD
510 520 530 540 550
GSLLVWHVDW LDEYQPGMFR QVQVSFVSRI PVAFPTGDAN SLCKSIMMYA
560 570 580 590 600
CTKNVDLAIQ QGKQKPSGLT RSTSMLISSG HNKSSNSLKL SIFTPNVMMI
610 620 630 640 650
SKHADGSLNQ WLVSFAEESA FSTVLSISHK SRYCGHRFHL NDLACHSVLP
660 670 680 690 700
LLLTTSHHNA LRTPDVDNPE QPFDALNIEE CSLTQQNKST VDVAFQDPSA
710 720 730 740 750
VYSELILWRV DPVGPLSFSG GVSELARINS LHVSAFSNVA WLPTLIPSYC
760 770 780 790 800
LGAYCNSPSA CFVASDGQYL RLYEAVIDAK KLLSELSNPE ISKYVGEVFN
810 820 830 840 850
IVSQQSTARP GCIIALDPIT KLHGRKTQLL HVFEEDFILN NLEKKSLGKD
860 870 880 890 900
SILSNAGSSP NGFSEKFYLI VIECTQDNRS LLHMWNLHLK SIPVSLDEKV
910 920 930 940 950
DTKLSEAVWQ PEEHYSSSPE KILSPFSQKY QACRANLQST SRLTLFSEMV
960 970 980 990 1000
YSQELHLPEG VEIISIKPSA GHLSSSSIYP ACSAPYLLAT SCSDEKVRFW
1010 1020 1030 1040 1050
RCRVTDGESA TSKNGKIDLA YIWEEWPLLI EDGLQSNSSI TVPGRPVEVS
1060 1070 1080 1090 1100
CAHTNRLAVA YKQPASNSRS SQDFVMHVSI FECESTGGSC WVLEQTIHLD
1110 1120 1130 1140 1150
ELSTVLDSGI SVDSNLVAYN KQDMYLSSKE NITSNTKHLV HLDWMSREDG
1160 1170 1180 1190 1200
SHILTVGIGS KLFMYGPLAG KVQDQTGKET LAFPLWESTK VVPLSKFVLL
1210 1220 1230 1240 1250
RSVDLVSSVD GSPPFPVSLS WVRDGILVVG MDCEMHVYCQ WQPSSKQEPV
1260 1270 1280 1290 1300
ITDSYSGSTP SITSLIKQSN SSSGLHPPKK TLTRSMTSLA QKICGKKTAF
1310 1320 1330 1340 1350
DPSVDMEDSG LFEAAHVLSP TLPQYHPLQL LELMDLGKVR RAKAILSHLV
1360 1370 1380 1390 1400
KCIAGEVVAL NEAESNHERR LRSLTISASG STTRDPQAFN KAENTDYTEI
1410 1420 1430 1440 1450
DSVPPLPLYA LLAADDDSCY SSLEKSSNES TLSKSNQLSK ESYDELFQTQ
1460 1470 1480 1490 1500
LLMTDTHMLE TDEENTKPRV IDLSQYSPTY FGPEHAQVLS GHLLHSSLPG
1510 1520 1530 1540 1550
LSRMEQMSLM ALADTIATTS TDIGESRDRS QGGETLDECG LKFLLAVRLH
1560 1570 1580 1590 1600
TFLTTSLPAY RAQLLHQGLS TSHFAWAFHS VAEEELLNML PAMQKDDPTW
1610 1620 1630 1640 1650
SELRAMGVGW WVRNTRILRK CIEKVAKAAF YRKNDPLDAA IFYLAMKKKA
1660 1670 1680 1690 1700
VIWGLYRAEK NTRMTQFFGH NFEDERWRKA ALKNAFSLLG KQRFEHSAAF
1710 1720 1730 1740 1750
FLLAGCLRDA IEVCLEKLND IQLALVIARL YESEFDTSAA YKSILRKKVL
1760 1770 1780 1790 1800
GIDSPVSELC SLNINMHHDP FLRSMAYWIL EDYSGALETL IKQPIRENDD
1810 1820 1830 1840 1850
QVLSASNPTV FNFYNYLRTH PLLLRRHFGS SDTFSTHMSL TGKSGLAGTI
1860 1870 1880 1890 1900
NLSERRLFFT TASAHLKAGC PMLALEVLSK MPKVIKKTRP FYRASSFLDT
1910 1920 1930 1940 1950
SKDCSPSSPL KLDAREDKSS AVDWSQSLIN GFGSSSEGSS EKQSNSTLSF
1960 1970 1980 1990 2000
DWSQPSVVFQ DDSLELKWDS DNDEENEDVP ISMKELKPLQ RKTDKKLDDI
2010 2020 2030 2040 2050
SSNYTESFST LDENDLLNPS EDIIAVQLKF RACLKILTVE LRTLSTGYEI
2060 2070 2080 2090 2100
DGGKLRYQLY HWLEKEVIAL QRTCDFCSDA EELQSAFGRN EDEFGLNEDA
2110 2120 2130 2140 2150
EDLPHQTKVK QLRENFQEKR QWLLKYQSLL RMFLSYCILH GSHGGGLASV
2160 2170 2180 2190 2200
RMELILLLQE SQQETSEPLF SSPLSEQTSV PLLFACTANA KTVVANPLLH
2210 2220 2230 2240 2250
LSNLTHDILH AIINFDSPPH PDIQSNKVYV MHTLAASLSA CIYQCLCGSH
2260 2270 2280 2290 2300
NYSSFQTNQF TGMVYQTVLL PHRPSLKTGS LDEALTPNTS PAQWPGITCL
2310 2320 2330 2340 2350
IRLLNSSGEE AQSGLTVLLC EILTAVYLSL FIHGLATHSS NELFRIVAHP
2360 2370 2380 2390 2400
LNEKMWSAVF GGGAHVPSKE QTHSKTLPVS SLVEEGEKQN KRFRPSKMSC
2410 2420 2430 2440 2450
RESAPLTPSS APVSQESLAV KEKFIPPELS IWDYFIAKPF LPSSQSRAEY
2460 2470 2480 2490 2500
DSEESLGSDD DDNDDDDDVL ASDFHLQEHS NSNSYSWSLM RLAMVQLVLN
2510 2520 2530 2540 2550
NLKTFYPFAG HDLAELPVSS PLCHAVLKTL QCWEQVLLRR LEIHGGPPQN
2560 2570 2580 2590 2600
YIASHTAEES LSAGPAILRH KALLEPTNTP FKSKHHLALS VKRLWQYLVK
2610 2620 2630 2640 2650
QEEIQETFIK NIFTKKRCLN EIEADLGYPG GKARIIHKES DIITAFAVNK
2660 2670 2680 2690 2700
ANRNCIAIAS SHDVQELDVS GILATQVYTW VDDDIEVETK GSEDFLVIHA
2710 2720 2730 2740 2750
RDDLTAVQGT TPYTHSNPGT PINMPWLGST QTGRGASVMI KKAINNVRRM
2760 2770 2780 2790 2800
TSHPTLPYYL TGAQDGSVRM FEWGHSQQIT CFRSGGNSRV TRMRFNYQGN
2810 2820 2830 2840 2850
KFGIVDADGY LSLYQTNWKC CPVTGSMPKP YLTWQCHNKT ANDFVFVSSS
2860 2870 2880 2890 2900
SLIATAGLST DNRNVCLWDT LVAPANSLVH AFTCHDSGAT VLAYAPKHQL
2910 2920 2930 2940 2950
LISGGRKGFT YVFDLCQRQQ RQLFQSHDSP VKAVAVDPTE EYFVTGSAEG
2960 2970 2980 2990 3000
NIKIWSLSTF GLLHTFVSEH ARQSIFRNIG TGVMQIETGP ANHIFSCGAD
3010 3020
GTMKMRILPD QFSPLNEVLK NDVKFML
Length:3,027
Mass (Da):337,839
Last modified:May 18, 2010 - v3
Checksum:i62E38BEC4AA71D29
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2173P → L in CAA06718 (PubMed:10708522).Curated1
Sequence conflicti2453E → Z in CAA06718 (PubMed:10708522).Curated1
Sequence conflicti2876N → D in CAA06718 (PubMed:10708522).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057589221I → M.Corresponds to variant rs7700801dbSNPEnsembl.1
Natural variantiVAR_057590851S → N.Corresponds to variant rs4895362dbSNPEnsembl.1
Natural variantiVAR_0575912067V → M.Corresponds to variant rs9790916dbSNPEnsembl.1
Natural variantiVAR_0575922107T → S.Corresponds to variant rs9791092dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001290321.2.
NP_001277251.1. NM_001290322.2.
NP_005500.4. NM_005509.5.
XP_016864631.1. XM_017009142.1.
UniGeneiHs.181042.

Genome annotation databases

EnsembliENST00000311085; ENSP00000309690; ENSG00000172869.
GeneIDi1657.
KEGGihsa:1657.
UCSCiuc003ksd.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001290321.2.
NP_001277251.1. NM_001290322.2.
NP_005500.4. NM_005509.5.
XP_016864631.1. XM_017009142.1.
UniGeneiHs.181042.

3D structure databases

ProteinModelPortaliQ9Y485.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108023. 6 interactors.
IntActiQ9Y485. 2 interactors.
STRINGi9606.ENSP00000309690.

PTM databases

iPTMnetiQ9Y485.
PhosphoSitePlusiQ9Y485.

Polymorphism and mutation databases

BioMutaiDMXL1.
DMDMi296439372.

Proteomic databases

EPDiQ9Y485.
MaxQBiQ9Y485.
PaxDbiQ9Y485.
PeptideAtlasiQ9Y485.
PRIDEiQ9Y485.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311085; ENSP00000309690; ENSG00000172869.
GeneIDi1657.
KEGGihsa:1657.
UCSCiuc003ksd.3. human.

Organism-specific databases

CTDi1657.
DisGeNETi1657.
GeneCardsiDMXL1.
H-InvDBHIX0024823.
HGNCiHGNC:2937. DMXL1.
HPAiHPA036431.
HPA036432.
MIMi605671. gene.
neXtProtiNX_Q9Y485.
OpenTargetsiENSG00000172869.
PharmGKBiPA27391.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1064. Eukaryota.
ENOG410XPUM. LUCA.
GeneTreeiENSGT00390000000096.
HOVERGENiHBG079593.
InParanoidiQ9Y485.
PhylomeDBiQ9Y485.
TreeFamiTF312896.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172869-MONOMER.
SignaLinkiQ9Y485.

Miscellaneous databases

GenomeRNAii1657.
PROiQ9Y485.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172869.
CleanExiHS_DMXL1.
ExpressionAtlasiQ9Y485. baseline and differential.
GenevisibleiQ9Y485. 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. 1 hit.
PF00400. WD40. 2 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]
ProtoNetiSearch...

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: November 30, 2016
This is version 130 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

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.