Seroatlas · Human Serome Atlas

UTRN

Utrophin

Also known as: DMDL, DRP, DRP1, UTRN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P46939
Gene: UTRN
Ensembl: ENSG00000152818
Chromosome: 6
Canonical length: 3433 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Primary cilium,Basal body
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

3433 residues, UniProt reviewed canonical sequence.

>P46939|UTRN
     1  MAKYGEHEAS PDNGQNEFSD IIKSRSDEHN DVQKKTFTKW INARFSKSGK PPINDMFTDL
    61  KDGRKLLDLL EGLTGTSLPK ERGSTRVHAL NNVNRVLQVL HQNNVELVNI GGTDIVDGNH
   121  KLTLGLLWSI ILHWQVKDVM KDVMSDLQQT NSEKILLSWV RQTTRPYSQV NVLNFTTSWT
   181  DGLAFNAVLH RHKPDLFSWD KVVKMSPIER LEHAFSKAQT YLGIEKLLDP EDVAVQLPDK
   241  KSIIMYLTSL FEVLPQQVTI DAIREVETLP RKYKKECEEE AINIQSTAPE EEHESPRAET
   301  PSTVTEVDMD LDSYQIALEE VLTWLLSAED TFQEQDDISD DVEEVKDQFA THEAFMMELT
   361  AHQSSVGSVL QAGNQLITQG TLSDEEEFEI QEQMTLLNAR WEALRVESMD RQSRLHDVLM
   421  ELQKKQLQQL SAWLTLTEER IQKMETCPLD DDVKSLQKLL EEHKSLQSDL EAEQVKVNSL
   481  THMVVIVDEN SGESATAILE DQLQKLGERW TAVCRWTEER WNRLQEINIL WQELLEEQCL
   541  LKAWLTEKEE ALNKVQTSNF KDQKELSVSV RRLAILKEDM EMKRQTLDQL SEIGQDVGQL
   601  LDNSKASKKI NSDSEELTQR WDSLVQRLED SSNQVTQAVA KLGMSQIPQK DLLETVRVRE
   661  QAITKKSKQE LPPPPPPKKR QIHVDIEAKK KFDAISAELL NWILKWKTAI QTTEIKEYMK
   721  MQDTSEMKKK LKALEKEQRE RIPRADELNQ TGQILVEQMG KEGLPTEEIK NVLEKVSSEW
   781  KNVSQHLEDL ERKIQLQEDI NAYFKQLDEL EKVIKTKEEW VKHTSISESS RQSLPSLKDS
   841  CQRELTNLLG LHPKIEMARA SCSALMSQPS APDFVQRGFD SFLGRYQAVQ EAVEDRQQHL
   901  ENELKGQPGH AYLETLKTLK DVLNDSENKA QVSLNVLNDL AKVEKALQEK KTLDEILENQ
   961  KPALHKLAEE TKALEKNVHP DVEKLYKQEF DDVQGKWNKL KVLVSKDLHL LEEIALTLRA
  1021  FEADSTVIEK WMDGVKDFLM KQQAAQGDDA GLQRQLDQCS AFVNEIETIE SSLKNMKEIE
  1081  TNLRSGPVAG IKTWVQTRLG DYQTQLEKLS KEIATQKSRL SESQEKAANL KKDLAEMQEW
  1141  MTQAEEEYLE RDFEYKSPEE LESAVEEMKR AKEDVLQKEV RVKILKDNIK LLAAKVPSGG
  1201  QELTSELNVV LENYQLLCNR IRGKCHTLEE VWSCWIELLH YLDLETTWLN TLEERMKSTE
  1261  VLPEKTDAVN EALESLESVL RHPADNRTQI RELGQTLIDG GILDDIISEK LEAFNSRYED
  1321  LSHLAESKQI SLEKQLQVLR ETDQMLQVLQ ESLGELDKQL TTYLTDRIDA FQVPQEAQKI
  1381  QAEISAHELT LEELRRNMRS QPLTSPESRT ARGGSQMDVL QRKLREVSTK FQLFQKPANF
  1441  EQRMLDCKRV LDGVKAELHV LDVKDVDPDV IQTHLDKCMK LYKTLSEVKL EVETVIKTGR
  1501  HIVQKQQTDN PKGMDEQLTS LKVLYNDLGA QVTEGKQDLE RASQLARKMK KEAASLSEWL
  1561  SATETELVQK STSEGLLGDL DTEISWAKNV LKDLEKRKAD LNTITESSAA LQNLIEGSEP
  1621  ILEERLCVLN AGWSRVRTWT EDWCNTLMNH QNQLEIFDGN VAHISTWLYQ AEALLDEIEK
  1681  KPTSKQEEIV KRLVSELDDA NLQVENVRDQ ALILMNARGS SSRELVEPKL AELNRNFEKV
  1741  SQHIKSAKLL IAQEPLYQCL VTTETFETGV PFSDLEKLEN DIENMLKFVE KHLESSDEDE
  1801  KMDEESAQIE EVLQRGEEML HQPMEDNKKE KIRLQLLLLH TRYNKIKAIP IQQRKMGQLA
  1861  SGIRSSLLPT DYLVEINKIL LCMDDVELSL NVPELNTAIY EDFSFQEDSL KNIKDQLDKL
  1921  GEQIAVIHEK QPDVILEASG PEAIQIRDTL TQLNAKWDRI NRMYSDRKGC FDRAMEEWRQ
  1981  FHCDLNDLTQ WITEAEELLV DTCAPGGSLD LEKARIHQQE LEVGISSHQP SFAALNRTGD
  2041  GIVQKLSQAD GSFLKEKLAG LNQRWDAIVA EVKDRQPRLK GESKQVMKYR HQLDEIICWL
  2101  TKAEHAMQKR STTELGENLQ ELRDLTQEME VHAEKLKWLN RTELEMLSDK SLSLPERDKI
  2161  SESLRTVNMT WNKICREVPT TLKECIQEPS SVSQTRIAAH PNVQKVVLVS SASDIPVQSH
  2221  RTSEISIPAD LDKTITELAD WLVLIDQMLK SNIVTVGDVE EINKTVSRMK ITKADLEQRH
  2281  PQLDYVFTLA QNLKNKASSS DMRTAITEKL ERVKNQWDGT QHGVELRQQQ LEDMIIDSLQ
  2341  WDDHREETEE LMRKYEARLY ILQQARRDPL TKQISDNQIL LQELGPGDGI VMAFDNVLQK
  2401  LLEEYGSDDT RNVKETTEYL KTSWINLKQS IADRQNALEA EWRTVQASRR DLENFLKWIQ
  2461  EAETTVNVLV DASHRENALQ DSILARELKQ QMQDIQAEID AHNDIFKSID GNRQKMVKAL
  2521  GNSEEATMLQ HRLDDMNQRW NDLKAKSASI RAHLEASAEK WNRLLMSLEE LIKWLNMKDE
  2581  ELKKQMPIGG DVPALQLQYD HCKALRRELK EKEYSVLNAV DQARVFLADQ PIEAPEEPRR
  2641  NLQSKTELTP EERAQKIAKA MRKQSSEVKE KWESLNAVTS NWQKQVDKAL EKLRDLQGAM
  2701  DDLDADMKEA ESVRNGWKPV GDLLIDSLQD HIEKIMAFRE EIAPINFKVK TVNDLSSQLS
  2761  PLDLHPSLKM SRQLDDLNMR WKLLQVSVDD RLKQLQEAHR DFGPSSQHFL STSVQLPWQR
  2821  SISHNKVPYY INHQTQTTCW DHPKMTELFQ SLADLNNVRF SAYRTAIKIR RLQKALCLDL
  2881  LELSTTNEIF KQHKLNQNDQ LLSVPDVINC LTTTYDGLEQ MHKDLVNVPL CVDMCLNWLL
  2941  NVYDTGRTGK IRVQSLKIGL MSLSKGLLEE KYRYLFKEVA GPTEMCDQRQ LGLLLHDAIQ
  3001  IPRQLGEVAA FGGSNIEPSV RSCFQQNNNK PEISVKEFID WMHLEPQSMV WLPVLHRVAA
  3061  AETAKHQAKC NICKECPIVG FRYRSLKHFN YDVCQSCFFS GRTAKGHKLH YPMVEYCIPT
  3121  TSGEDVRDFT KVLKNKFRSK KYFAKHPRLG YLPVQTVLEG DNLETPITLI SMWPEHYDPS
  3181  QSPQLFHDDT HSRIEQYATR LAQMERTNGS FLTDSSSTTG SVEDEHALIQ QYCQTLGGES
  3241  PVSQPQSPAQ ILKSVEREER GELERIIADL EEEQRNLQVE YEQLKDQHLR RGLPVGSPPE
  3301  SIISPHHTSE DSELIAEAKL LRQHKGRLEA RMQILEDHNK QLESQLHRLR QLLEQPESDS
  3361  RINGVSPWAS PQHSALSYSL DPDASGPQFH QAAGEDLLAP PHDTSTDLTE VMEQIHSTFP
  3421  SCCPNVPSRP QAM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UTRN 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 56 nTPM

Expression across tissuesHPA

Tissue

spleen: 56 nTPM
parathyroid gland: 56 nTPM
thyroid gland: 52 nTPM
testis: 51 nTPM
adipose tissue: 40 nTPM
lung: 38 nTPM

Single-cell type

alveolar cells type 1: 1,287 nCPM
prostatic glandular cells: 1,177 nCPM
lymphatic endothelial cells: 1,006 nCPM
vascular smooth muscle cells: 999 nCPM
nk-cells: 972 nCPM
monocytes: 971 nCPM

Immune cell

non-classical monocyte: 157 nTPM
intermediate monocyte: 109 nTPM
gdT-cell: 36 nTPM
naive B-cell: 35 nTPM
classical monocyte: 33 nTPM
NK-cell: 31 nTPM

Brain region

hypothalamus: 137 nTPM
midbrain: 89 nTPM
basal ganglia: 85 nTPM
pons: 84 nTPM
medulla oblongata: 79 nTPM
thalamus: 79 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UTRN.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 703 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Duchenne muscular dystrophy

Disease | ImmuneIEDB

Conditions an epitope on UTRN was assayed in.

type 1 diabetes mellitus 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): 0.43
gnomAD pLI: 0
gnomAD missense Z: 0.37
DepMap mean gene effect: 0
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

UTRN is annotated at the cell surface, where native UTRN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Loading the interactive Seroatlas protein explorer...