Seroatlas · Human Serome Atlas

DMXL1

DmX-like protein 1

Also known as: DMXL1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y485
Gene: DMXL1
Ensembl: ENSG00000172869
Chromosome: 5
Canonical length: 3027 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoli,Nucleoli fibrillar center,Cytosol

OverviewNCBI Gene

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. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

3027 residues, UniProt reviewed canonical sequence.

>Q9Y485|DMXL1
     1  MNLHQVLTGA VNPGDHCFSV GSIGDQRFTA YASGCDIVIL GSDFERLQII PGAKHGNIQV
    61  GCVDCSMQQG KIAASYGNVI SIFEPVNLPK QKKNLELYSQ WQKSGQFFLE SIAHNITWDP
   121  TGSRLLTGSS YLQLWSNTNL EKPTEDENLN KTDLNFGDWK CIWHCKTASQ VHLMKFSPDG
   181  EFFATAGKDD CLLKVWYNVE NWRTAVTSPD GSSEKQSQGE IDFSFVYLAH PRAVNGFSWR
   241  KTSKYMPRAS VCNVLLTCCK DNVCRLWVET FLPNDCLLYG GDCSHWTESI NLTNNFKRNA
   301  SSKERVQNAL EVNLRHFRRG RRRSLALVAH TGYLPHQQDP HHVHRNTPLH ANALCHFHIA
   361  ASINPATDIP LLPSITSLSL NENEEKTGPF VVHWLNNKEL HFTLSMEVFL QQLRKSFEQP
   421  SSEASVEDSN QADVKSDEET DDGVDDLKIN PEKKELGCDK MVPNSSFTSL SSAAIDHQIE
   481  VLLSEWSKNA DMLFSIHPMD GSLLVWHVDW LDEYQPGMFR QVQVSFVSRI PVAFPTGDAN
   541  SLCKSIMMYA CTKNVDLAIQ QGKQKPSGLT RSTSMLISSG HNKSSNSLKL SIFTPNVMMI
   601  SKHADGSLNQ WLVSFAEESA FSTVLSISHK SRYCGHRFHL NDLACHSVLP LLLTTSHHNA
   661  LRTPDVDNPE QPFDALNIEE CSLTQQNKST VDVAFQDPSA VYSELILWRV DPVGPLSFSG
   721  GVSELARINS LHVSAFSNVA WLPTLIPSYC LGAYCNSPSA CFVASDGQYL RLYEAVIDAK
   781  KLLSELSNPE ISKYVGEVFN IVSQQSTARP GCIIALDPIT KLHGRKTQLL HVFEEDFILN
   841  NLEKKSLGKD SILSNAGSSP NGFSEKFYLI VIECTQDNRS LLHMWNLHLK SIPVSLDEKV
   901  DTKLSEAVWQ PEEHYSSSPE KILSPFSQKY QACRANLQST SRLTLFSEMV YSQELHLPEG
   961  VEIISIKPSA GHLSSSSIYP ACSAPYLLAT SCSDEKVRFW RCRVTDGESA TSKNGKIDLA
  1021  YIWEEWPLLI EDGLQSNSSI TVPGRPVEVS CAHTNRLAVA YKQPASNSRS SQDFVMHVSI
  1081  FECESTGGSC WVLEQTIHLD ELSTVLDSGI SVDSNLVAYN KQDMYLSSKE NITSNTKHLV
  1141  HLDWMSREDG SHILTVGIGS KLFMYGPLAG KVQDQTGKET LAFPLWESTK VVPLSKFVLL
  1201  RSVDLVSSVD GSPPFPVSLS WVRDGILVVG MDCEMHVYCQ WQPSSKQEPV ITDSYSGSTP
  1261  SITSLIKQSN SSSGLHPPKK TLTRSMTSLA QKICGKKTAF DPSVDMEDSG LFEAAHVLSP
  1321  TLPQYHPLQL LELMDLGKVR RAKAILSHLV KCIAGEVVAL NEAESNHERR LRSLTISASG
  1381  STTRDPQAFN KAENTDYTEI DSVPPLPLYA LLAADDDSCY SSLEKSSNES TLSKSNQLSK
  1441  ESYDELFQTQ LLMTDTHMLE TDEENTKPRV IDLSQYSPTY FGPEHAQVLS GHLLHSSLPG
  1501  LSRMEQMSLM ALADTIATTS TDIGESRDRS QGGETLDECG LKFLLAVRLH TFLTTSLPAY
  1561  RAQLLHQGLS TSHFAWAFHS VAEEELLNML PAMQKDDPTW SELRAMGVGW WVRNTRILRK
  1621  CIEKVAKAAF YRKNDPLDAA IFYLAMKKKA VIWGLYRAEK NTRMTQFFGH NFEDERWRKA
  1681  ALKNAFSLLG KQRFEHSAAF FLLAGCLRDA IEVCLEKLND IQLALVIARL YESEFDTSAA
  1741  YKSILRKKVL GIDSPVSELC SLNINMHHDP FLRSMAYWIL EDYSGALETL IKQPIRENDD
  1801  QVLSASNPTV FNFYNYLRTH PLLLRRHFGS SDTFSTHMSL TGKSGLAGTI NLSERRLFFT
  1861  TASAHLKAGC PMLALEVLSK MPKVIKKTRP FYRASSFLDT SKDCSPSSPL KLDAREDKSS
  1921  AVDWSQSLIN GFGSSSEGSS EKQSNSTLSF DWSQPSVVFQ DDSLELKWDS DNDEENEDVP
  1981  ISMKELKPLQ RKTDKKLDDI SSNYTESFST LDENDLLNPS EDIIAVQLKF RACLKILTVE
  2041  LRTLSTGYEI DGGKLRYQLY HWLEKEVIAL QRTCDFCSDA EELQSAFGRN EDEFGLNEDA
  2101  EDLPHQTKVK QLRENFQEKR QWLLKYQSLL RMFLSYCILH GSHGGGLASV RMELILLLQE
  2161  SQQETSEPLF SSPLSEQTSV PLLFACTANA KTVVANPLLH LSNLTHDILH AIINFDSPPH
  2221  PDIQSNKVYV MHTLAASLSA CIYQCLCGSH NYSSFQTNQF TGMVYQTVLL PHRPSLKTGS
  2281  LDEALTPNTS PAQWPGITCL IRLLNSSGEE AQSGLTVLLC EILTAVYLSL FIHGLATHSS
  2341  NELFRIVAHP LNEKMWSAVF GGGAHVPSKE QTHSKTLPVS SLVEEGEKQN KRFRPSKMSC
  2401  RESAPLTPSS APVSQESLAV KEKFIPPELS IWDYFIAKPF LPSSQSRAEY DSEESLGSDD
  2461  DDNDDDDDVL ASDFHLQEHS NSNSYSWSLM RLAMVQLVLN NLKTFYPFAG HDLAELPVSS
  2521  PLCHAVLKTL QCWEQVLLRR LEIHGGPPQN YIASHTAEES LSAGPAILRH KALLEPTNTP
  2581  FKSKHHLALS VKRLWQYLVK QEEIQETFIK NIFTKKRCLN EIEADLGYPG GKARIIHKES
  2641  DIITAFAVNK ANRNCIAIAS SHDVQELDVS GILATQVYTW VDDDIEVETK GSEDFLVIHA
  2701  RDDLTAVQGT TPYTHSNPGT PINMPWLGST QTGRGASVMI KKAINNVRRM TSHPTLPYYL
  2761  TGAQDGSVRM FEWGHSQQIT CFRSGGNSRV TRMRFNYQGN KFGIVDADGY LSLYQTNWKC
  2821  CPVTGSMPKP YLTWQCHNKT ANDFVFVSSS SLIATAGLST DNRNVCLWDT LVAPANSLVH
  2881  AFTCHDSGAT VLAYAPKHQL LISGGRKGFT YVFDLCQRQQ RQLFQSHDSP VKAVAVDPTE
  2941  EYFVTGSAEG NIKIWSLSTF GLLHTFVSEH ARQSIFRNIG TGVMQIETGP ANHIFSCGAD
  3001  GTMKMRILPD QFSPLNEVLK NDVKFML

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DMXL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

prostate: 25 nTPM
bone marrow: 24 nTPM
kidney: 13 nTPM
thyroid gland: 12 nTPM
pancreas: 11 nTPM
parathyroid gland: 11 nTPM

Single-cell type

prostatic glandular cells: 1,371 nCPM
retinal pigment epithelial cells: 341 nCPM
sertoli cells: 298 nCPM
myonuclei: 294 nCPM
lactotrophs: 284 nCPM
proximal tubule cells: 279 nCPM

Immune cell

naive B-cell: 8.1 nTPM
non-classical monocyte: 7.8 nTPM
memory B-cell: 7.6 nTPM
plasmacytoid DC: 7 nTPM
classical monocyte: 4.3 nTPM
basophil: 3.9 nTPM

Brain region

white matter: 51 nTPM
choroid plexus: 49 nTPM
cerebellum: 40 nTPM
pons: 40 nTPM
medulla oblongata: 39 nTPM
spinal cord: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DMXL1.

Disease | ImmuneIEDB

Conditions an epitope on DMXL1 was assayed in.

chronic lymphocytic leukemia T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.2
gnomAD pLI: 1
gnomAD missense Z: -0.49
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

vacuolar acidification

Cellular components

RAVE complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DMXL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DMXL1 as an antibody target. Whether an autoantibody or antibody against DMXL1 could matter depends on whether native DMXL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DMXL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DMXL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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