DYTN_HUMAN
ID DYTN_HUMAN Reviewed; 578 AA.
AC A2CJ06;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Dystrotelin;
GN Name=DYTN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=17233888; DOI=10.1186/1471-2164-8-19;
RA Jin H., Tan S., Hermanowski J., Boehm S., Pacheco S., McCauley J.M.,
RA Greener M.J., Hinits Y., Hughes S.M., Sharpe P.T., Roberts R.G.;
RT "The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues
RT and old isoforms.";
RL BMC Genomics 8:19-19(2007).
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}.
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DR EMBL; DQ516347; ABF55377.1; -; mRNA.
DR CCDS; CCDS46502.1; -.
DR RefSeq; NP_001087199.1; NM_001093730.1.
DR AlphaFoldDB; A2CJ06; -.
DR SMR; A2CJ06; -.
DR BioGRID; 133933; 1.
DR STRING; 9606.ENSP00000396593; -.
DR iPTMnet; A2CJ06; -.
DR PhosphoSitePlus; A2CJ06; -.
DR BioMuta; DYTN; -.
DR EPD; A2CJ06; -.
DR jPOST; A2CJ06; -.
DR PaxDb; A2CJ06; -.
DR PeptideAtlas; A2CJ06; -.
DR PRIDE; A2CJ06; -.
DR ProteomicsDB; 437; -.
DR Antibodypedia; 67876; 71 antibodies from 12 providers.
DR DNASU; 391475; -.
DR Ensembl; ENST00000452335.2; ENSP00000396593.2; ENSG00000232125.5.
DR GeneID; 391475; -.
DR KEGG; hsa:391475; -.
DR MANE-Select; ENST00000452335.2; ENSP00000396593.2; NM_001093730.1; NP_001087199.1.
DR UCSC; uc002vbr.1; human.
DR CTD; 391475; -.
DR DisGeNET; 391475; -.
DR GeneCards; DYTN; -.
DR HGNC; HGNC:23279; DYTN.
DR HPA; ENSG00000232125; Not detected.
DR MIM; 618510; gene.
DR neXtProt; NX_A2CJ06; -.
DR OpenTargets; ENSG00000232125; -.
DR PharmGKB; PA162384136; -.
DR VEuPathDB; HostDB:ENSG00000232125; -.
DR eggNOG; KOG4286; Eukaryota.
DR GeneTree; ENSGT00940000162403; -.
DR HOGENOM; CLU_027773_0_0_1; -.
DR InParanoid; A2CJ06; -.
DR OMA; QKSHPVI; -.
DR OrthoDB; 598837at2759; -.
DR PhylomeDB; A2CJ06; -.
DR TreeFam; TF326090; -.
DR PathwayCommons; A2CJ06; -.
DR SignaLink; A2CJ06; -.
DR BioGRID-ORCS; 391475; 11 hits in 1061 CRISPR screens.
DR ChiTaRS; DYTN; human.
DR GenomeRNAi; 391475; -.
DR Pharos; A2CJ06; Tdark.
DR PRO; PR:A2CJ06; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; A2CJ06; protein.
DR Bgee; ENSG00000232125; Expressed in monocyte and 9 other tissues.
DR ExpressionAtlas; A2CJ06; baseline and differential.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0099536; P:synaptic signaling; IBA:GO_Central.
DR Gene3D; 3.30.60.90; -; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR015153; EF-hand_dom_typ1.
DR InterPro; IPR015154; EF-hand_dom_typ2.
DR InterPro; IPR000433; Znf_ZZ.
DR InterPro; IPR043145; Znf_ZZ_sf.
DR Pfam; PF09068; EF-hand_2; 1.
DR Pfam; PF09069; EF-hand_3; 1.
DR Pfam; PF00569; ZZ; 1.
DR SMART; SM00291; ZnF_ZZ; 1.
DR SUPFAM; SSF47473; SSF47473; 2.
DR PROSITE; PS01357; ZF_ZZ_1; 1.
DR PROSITE; PS50135; ZF_ZZ_2; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Coiled coil; Membrane; Metal-binding; Reference proteome;
KW Zinc; Zinc-finger.
FT CHAIN 1..578
FT /note="Dystrotelin"
FT /id="PRO_0000298934"
FT ZN_FING 223..279
FT /note="ZZ-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT REGION 382..475
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 322..351
FT /evidence="ECO:0000255"
FT COILED 503..537
FT /evidence="ECO:0000255"
FT COMPBIAS 384..402
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 428..450
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 451..475
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 228
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 231
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 243
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 246
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 252
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 255
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 265
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT BINDING 269
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00228"
FT VARIANT 241
FT /note="Y -> C (in dbSNP:rs16838593)"
FT /id="VAR_050960"
FT VARIANT 474
FT /note="Q -> K (in dbSNP:rs2115591)"
FT /id="VAR_050961"
SQ SEQUENCE 578 AA; 65320 MW; EC7BC442A8F38644 CRC64;
MDPDKQDALN SIENSIYRTA FKLQSVQTLC QLDLIDSSLI QQVLLRPSFW EARKHSLSVQ
QLSQALQELF QKAREENPGQ VHPRAPELTL SLLTTMYNSK GTGFLQLMPA AAALITLSGD
SPLSKYRALF QLYAENSRGG YDSGPRMTRR VLRKLLTDLQ QIPTFVGESR ALCPVESATR
SCFQGVLSPA IKEEKFLSWV QSEPPILLWL PTCHRLSAAE RVTHPARCTL CRTFPITGLR
YRCLKCLNFD ICQMCFLSGL HSKSHQKSHP VIEHCIQMSA MQNTKLLFRT LRNNLLQGRC
RKKEAARRQQ LLDQVNPKGV PHHAQARLLK KQLNQYKDKL QAIYTSQEER ICRFETRIHK
LKTNQDSLWT KLQQIRRDLQ ARLQPPGPSS SSFQNVGNKV DHSSTEKVPK GGDYLQIKNA
TEDASTGEPL PKLDEVDRSH RSHTNAEHAL RNPESPETTL HSTRAQSQTQ KMPQKVISAL
PSYQEGLKQD IPKMVPAEMS SPALAAVEKK EAGNIKERKD ELEEEELQEL LSKLMDAFNL
ETPSGPESSV NMDLYSGAQR VCRAFSALVD QIALPNLK