Gene Gene information from NCBI Gene database.
Entrez ID 1657
Gene name Dmx like 1
Gene symbol DMXL1
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q23.1
Summary The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. I
miRNA miRNA information provided by mirtarbase database.
580
miRTarBase ID miRNA Experiments Reference
MIRT017898 hsa-miR-335-5p Microarray 18185580
MIRT021349 hsa-miR-9-5p Microarray 17612493
MIRT023314 hsa-miR-122-5p Microarray 17612493
MIRT049790 hsa-miR-92a-3p CLASH 23622248
MIRT710980 hsa-miR-586 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0007035 Process Vacuolar acidification IBA
GO:0043291 Component RAVE complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605671 2937 ENSG00000172869
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y485
Protein name DmX-like protein 1 (X-like 1 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 159 196 WD domain, G-beta repeat Repeat
PF12234 Rav1p_C 1101 1877 RAVE protein 1 C terminal Family
PF00400 WD40 2917 2956 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis, tonsils, placenta and uterus. {ECO:0000269|PubMed:10708522}.
Sequence
MNLHQVLTGAVNPGDHCFSVGSIGDQRFTAYASGCDIVILGSDFERLQIIPGAKHGNIQV
GCVDCSMQQGKIAASYGNVISIFEPVNLPKQKKNLELYSQWQKSGQFFLESIAHNITWDP
TGSRLLTGSSYLQLWSNTNLEKPTEDENLNKTDLNFGDWKCIWHCKTASQVHLMKFSPDG
EFFATAGKDDCLLKVW
YNVENWRTAVTSPDGSSEKQSQGEIDFSFVYLAHPRAVNGFSWR
KTSKYMPRASVCNVLLTCCKDNVCRLWVETFLPNDCLLYGGDCSHWTESINLTNNFKRNA
SSKERVQNALEVNLRHFRRGRRRSLALVAHTGYLPHQQDPHHVHRNTPLHANALCHFHIA
ASINPATDIPLLPSITSLSLNENEEKTGPFVVHWLNNKELHFTLSMEVFLQQLRKSFEQP
SSEASVEDSNQADVKSDEETDDGVDDLKINPEKKELGCDKMVPNSSFTSLSSAAIDHQIE
VLLSEWSKNADMLFSIHPMDGSLLVWHVDWLDEYQPGMFRQVQVSFVSRIPVAFPTGDAN
SLCKSIMMYACTKNVDLAIQQGKQKPSGLTRSTSMLISSGHNKSSNSLKLSIFTPNVMMI
SKHADGSLNQWLVSFAEESAFSTVLSISHKSRYCGHRFHLNDLACHSVLPLLLTTSHHNA
LRTPDVDNPEQPFDALNIEECSLTQQNKSTVDVAFQDPSAVYSELILWRVDPVGPLSFSG
GVSELARINSLHVSAFSNVAWLPTLIPSYCLGAYCNSPSACFVASDGQYLRLYEAVIDAK
KLLSELSNPEISKYVGEVFNIVSQQSTARPGCIIALDPITKLHGRKTQLLHVFEEDFILN
NLEKKSLGKDSILSNAGSSPNGFSEKFYLIVIECTQDNRSLLHMWNLHLKSIPVSLDEKV
DTKLSEAVWQPEEHYSSSPEKILSPFSQKYQACRANLQSTSRLTLFSEMVYSQELHLPEG
VEIISIKPSAGHLSSSSIYPACSAPYLLATSCSDEKVRFWRCRVTDGESATSKNGKIDLA
YIWEEWPLLIEDGLQSNSSITVPGRPVEVSCAHTNRLAVAYKQPASNSRSSQDFVMHVSI
FECESTGGSCWVLEQTIHLDELSTVLDSGISVDSNLVAYNKQDMYLSSKENITSNTKHLV
HLDWMSREDGSHILTVGIGSKLFMYGPLAGKVQDQTGKETLAFPLWESTKVVPLSKFVLL
RSVDLVSSVDGSPPFPVSLSWVRDGILVVGMDCEMHVYCQWQPSSKQEPVITDSYSGSTP
SITSLIKQSNSSSGLHPPKKTLTRSMTSLAQKICGKKTAFDPSVDMEDSGLFEAAHVLSP
TLPQYHPLQLLELMDLGKVRRAKAILSHLVKCIAGEVVALNEAESNHERRLRSLTISASG
STTRDPQAFNKAENTDYTEIDSVPPLPLYALLAADDDSCYSSLEKSSNESTLSKSNQLSK
ESYDELFQTQLLMTDTHMLETDEENTKPRVIDLSQYSPTYFGPEHAQVLSGHLLHSSLPG
LSRMEQMSLMALADTIATTSTDIGESRDRSQGGETLDECGLKFLLAVRLHTFLTTSLPAY
RAQLLHQGLSTSHFAWAFHSVAEEELLNMLPAMQKDDPTWSELRAMGVGWWVRNTRILRK
CIEKVAKAAFYRKNDPLDAAIFYLAMKKKAVIWGLYRAEKNTRMTQFFGHNFEDERWRKA
ALKNAFSLLGKQRFEHSAAFFLLAGCLRDAIEVCLEKLNDIQLALVIARLYESEFDTSAA
YKSILRKKVLGIDSPVSELCSLNINMHHDPFLRSMAYWILEDYSGALETLIKQPIRENDD
QVLSASNPTVFNFYNYLRTHPLLLRRHFGSSDTFSTHMSLTGKSGLAGTINLSERRLFFT
TASAHLKAGCPMLALEV
LSKMPKVIKKTRPFYRASSFLDTSKDCSPSSPLKLDAREDKSS
AVDWSQSLINGFGSSSEGSSEKQSNSTLSFDWSQPSVVFQDDSLELKWDSDNDEENEDVP
ISMKELKPLQRKTDKKLDDISSNYTESFSTLDENDLLNPSEDIIAVQLKFRACLKILTVE
LRTLSTGYEIDGGKLRYQLYHWLEKEVIALQRTCDFCSDAEELQSAFGRNEDEFGLNEDA
EDLPHQTKVKQLRENFQEKRQWLLKYQSLLRMFLSYCILHGSHGGGLASVRMELILLLQE
SQQETSEPLFSSPLSEQTSVPLLFACTANAKTVVANPLLHLSNLTHDILHAIINFDSPPH
PDIQSNKVYVMHTLAASLSACIYQCLCGSHNYSSFQTNQFTGMVYQTVLLPHRPSLKTGS
LDEALTPNTSPAQWPGITCLIRLLNSSGEEAQSGLTVLLCEILTAVYLSLFIHGLATHSS
NELFRIVAHPLNEKMWSAVFGGGAHVPSKEQTHSKTLPVSSLVEEGEKQNKRFRPSKMSC
RESAPLTPSSAPVSQESLAVKEKFIPPELSIWDYFIAKPFLPSSQSRAEYDSEESLGSDD
DDNDDDDDVLASDFHLQEHSNSNSYSWSLMRLAMVQLVLNNLKTFYPFAGHDLAELPVSS
PLCHAVLKTLQCWEQVLLRRLEIHGGPPQNYIASHTAEESLSAGPAILRHKALLEPTNTP
FKSKHHLALSVKRLWQYLVKQEEIQETFIKNIFTKKRCLNEIEADLGYPGGKARIIHKES
DIITAFAVNKANRNCIAIASSHDVQELDVSGILATQVYTWVDDDIEVETKGSEDFLVIHA
RDDLTAVQGTTPYTHSNPGTPINMPWLGSTQTGRGASVMIKKAINNVRRMTSHPTLPYYL
TGAQDGSVRMFEWGHSQQITCFRSGGNSRVTRMRFNYQGNKFGIVDADGYLSLYQTNWKC
CPVTGSMPKPYLTWQCHNKTANDFVFVSSSSLIATAGLSTDNRNVCLWDTLVAPANSLVH
AFTCHDSGATVLAYAPKHQLLISGGRKGFTYVFDLCQRQQRQLFQSHDSPVKAVAVDPTE
EYFVTGSAEGNIKIWS
LSTFGLLHTFVSEHARQSIFRNIGTGVMQIETGPANHIFSCGAD
GTMKMRILPDQFSPLNEVLKNDVKFML
Sequence length 3027
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Lysosome  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Uncertain significance rs76268053, rs149518343 RCV005937170
RCV005933245
Cholangiocarcinoma Benign rs76268053, rs115843760 RCV005937172
RCV005911640
DMXL1-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs9790916, rs9791092, rs993611912, rs1784552321, rs2533784927, rs1221774963, rs147904610, rs115635986, rs75603518, rs79390966, rs777942863, rs17144974, rs112912947, rs76268053, rs113893593
View all (59 more)
RCV003980838
RCV003975828
RCV003420773
RCV003400216
RCV003404710
RCV003410821
RCV003939006
RCV003894776
RCV003909489
RCV003923987
RCV003981661
RCV003974498
RCV003974653
RCV003974706
RCV003904163
RCV003974073
RCV003974179
RCV003984695
RCV003903840
RCV003912046
RCV003914189
RCV003979527
RCV003982231
RCV003984485
RCV003899291
RCV003909353
RCV003911554
RCV003933912
RCV003924654
RCV003961675
RCV003963943
RCV003972043
RCV003919509
RCV003931441
RCV003927175
RCV003941527
RCV003939783
RCV003961356
RCV003932301
RCV003917383
RCV003924391
RCV003951524
RCV003954780
RCV003969269
RCV003969302
RCV003922019
RCV003922235
RCV003931982
RCV003932043
RCV003949222
RCV003937394
RCV003954396
RCV003979032
RCV003964755
RCV003977005
RCV003962288
RCV003976712
RCV003978907
RCV003981330
RCV003976271
RCV003970778
RCV003978248
RCV003978335
RCV003978152
RCV003978153
RCV003960671
RCV003905837
RCV003936066
RCV003905838
RCV003918466
RCV003972889
RCV003920628
RCV003957944
RCV003910447
RCV003910478
Familial cancer of breast Benign rs74361177 RCV005905917
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 36776048
Glaucoma Associate 21310917
Glaucoma Open Angle Associate 21310917