Q9Y485 (DMXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DmX-like protein 1
Short name=X-like 1 protein

Gene names

Name:	DMXL1
Synonyms:	XL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	3027 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Polymorphism
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3027	3027	DmX-like protein 1		PRO_0000223322
Regions
	Repeat	108 – 145	38	WD 1
	Repeat	166 – 206	41	WD 2
	Repeat	229 – 277	49	WD 3
	Repeat	476 – 516	41	WD 4
	Repeat	580 – 621	42	WD 5
	Repeat	628 – 665	38	WD 6
	Repeat	848 – 895	48	WD 7
	Repeat	968 – 1010	43	WD 8
	Repeat	1134 – 1175	42	WD 9
	Repeat	1211 – 1251	41	WD 10
	Repeat	2742 – 2783	42	WD 11
	Repeat	2785 – 2824	40	WD 12
	Repeat	2836 – 2878	43	WD 12
	Repeat	2884 – 2923	40	WD 14
	Repeat	2926 – 2965	40	WD 15
	Repeat	2978 – 3016	39	WD 16
	Compositional bias	2459 – 2468	10	Poly-Asp
Amino acid modifications
	Modified residue	324	1	Phosphoserine Ref.7
	Modified residue	436	1	Phosphoserine Ref.5 Ref.7
	Modified residue	917	1	Phosphoserine By similarity
	Modified residue	924	1	Phosphoserine Ref.3
	Modified residue	1970	1	Phosphoserine Ref.4 Ref.5 Ref.7
Natural variations
	Natural variant	221	1	I → M. Corresponds to variant rs7700801 [ dbSNP | Ensembl ].		VAR_057589
	Natural variant	851	1	S → N. Corresponds to variant rs4895362 [ dbSNP | Ensembl ].		VAR_057590
	Natural variant	2067	1	V → M. Corresponds to variant rs9790916 [ dbSNP | Ensembl ].		VAR_057591
	Natural variant	2107	1	T → S. Corresponds to variant rs9791092 [ dbSNP | Ensembl ].		VAR_057592
Experimental info
	Sequence conflict	2173	1	P → L in CAA06718. Ref.1
	Sequence conflict	2453	1	E → Z in CAA06718. Ref.1
	Sequence conflict	2876	1	N → D in CAA06718. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9Y485 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 62E38BEC4AA71D29	FASTA	3,027	337,839
	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

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[4]	"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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[5]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"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].
[7]	"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, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ005821 mRNA. Translation: CAA06718.2. AC027320 Genomic DNA. No translation available. AC118465 Genomic DNA. No translation available.
IPI	IPI00294728.
RefSeq	NP_005500.4. NM_005509.4.
UniGene	Hs.181042.
3D structure databases
ProteinModelPortal	Q9Y485.
SMR	Q9Y485. Positions 169-196, 1140-1166.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000309690.
PTM databases
PhosphoSite	Q9Y485.
Polymorphism databases
DMDM	296439372.
Proteomic databases
PaxDb	Q9Y485.
PRIDE	Q9Y485.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000311085; ENSP00000309690; ENSG00000172869.
GeneID	1657.
KEGG	hsa:1657.
UCSC	uc003ksd.2. human.
Organism-specific databases
CTD	1657.
GeneCards	GC05P118435.
H-InvDB	HIX0024823.
HGNC	HGNC:2937. DMXL1.
HPA	HPA036431.
MIM	605671. gene.
neXtProt	NX_Q9Y485.
PharmGKB	PA27391.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOVERGEN	HBG079593.
InParanoid	Q9Y485.
PhylomeDB	Q9Y485.
Gene expression databases
ArrayExpress	Q9Y485.
Bgee	Q9Y485.
CleanEx	HS_DMXL1.
Genevestigator	Q9Y485.
GermOnline	ENSG00000172869. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 2 hits.
InterPro	IPR022033. Rav1p_C. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF12234. Rav1p_C. 1 hit. PF00400. WD40. 3 hits. [Graphical view]
SMART	SM00320. WD40. 10 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 2 hits.
PROSITE	PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1657.
NextBio	6824.
SOURCE	Search...

Entry information

Entry name

DMXL1_HUMAN

Accession

Primary (citable) accession number: Q9Y485

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 7, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 96 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.