Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7402
Gene name Gene Name - the full gene name approved by the HGNC.
Utrophin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UTRN
Synonyms (NCBI Gene) Gene synonyms aliases
DMDL, DRP, DRP1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001788 hsa-miR-206 Reporter assay 17030984
MIRT023543 hsa-miR-1-3p Proteomics 18668040
MIRT030742 hsa-miR-21-5p Microarray 18591254
MIRT052224 hsa-let-7b-5p CLASH 23622248
MIRT043263 hsa-miR-331-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
EN1 Repression 21672318
ERF Repression 17507653
SP1 Activation 11237613
SP3 Activation 11237613
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001954 Process Positive regulation of cell-matrix adhesion IMP 19786618
GO:0003779 Function Actin binding IDA 16803572
GO:0005178 Function Integrin binding IPI 16803572
GO:0005515 Function Protein binding IPI 10767429, 16777071, 18838687, 19786618
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
128240 12635 ENSG00000152818
Protein
UniProt ID P46939
Protein name Utrophin (Dystrophin-related protein 1) (DRP-1)
Protein function May play a role in anchoring the cytoskeleton to the plasma membrane.
PDB 1BHD , 1QAG , 6M5G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 31 136 Calponin homology (CH) domain Domain
PF00307 CH 150 256 Calponin homology (CH) domain Domain
PF00435 Spectrin 309 417 Spectrin repeat Domain
PF00435 Spectrin 418 526 Spectrin repeat Domain
PF00435 Spectrin 1016 1122 Spectrin repeat Domain
PF00435 Spectrin 1125 1230 Spectrin repeat Domain
PF00435 Spectrin 1544 1649 Spectrin repeat Domain
PF00435 Spectrin 1652 1753 Spectrin repeat Domain
PF00435 Spectrin 1976 2081 Spectrin repeat Domain
PF00435 Spectrin 2230 2333 Spectrin repeat Domain
PF00435 Spectrin 2444 2556 Spectrin repeat Domain
PF00435 Spectrin 2691 2797 Spectrin repeat Domain
PF00397 WW 2815 2843 WW domain Domain
PF09068 EF-hand_2 2846 2964 EF hand Domain
PF09069 EF-hand_3 2968 3059 EF-hand Domain
PF00569 ZZ 3064 3109 Zinc finger, ZZ type Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 has high expression in muscle. Isoforms Up70 and Up140 were found in all the adult and fetal tissues tested and relatively abundant in lung and kidney. {ECO:0000269|PubMed:10369873}.
Sequence
MAKYGEHEASPDNGQNEFSDIIKSRSDEHNDVQKKTFTKWINARFSKSGKPPINDMFTDL
KDGRKLLDLLEGLTGTSLPKERGSTRVHALNNVNRVLQVLHQNNVELVNIGGTDIVDGNH
KLTLGLLWSIILHWQV
KDVMKDVMSDLQQTNSEKILLSWVRQTTRPYSQVNVLNFTTSWT
DGLAFNAVLHRHKPDLFSWDKVVKMSPIERLEHAFSKAQTYLGIEKLLDPEDVAVQLPDK
KSIIMYLTSLFEVLPQ
QVTIDAIREVETLPRKYKKECEEEAINIQSTAPEEEHESPRAET
PSTVTEVDMDLDSYQIALEEVLTWLLSAEDTFQEQDDISDDVEEVKDQFATHEAFMMELT
AHQSSVGSVLQAGNQLITQGTLSDEEEFEIQEQMTLLNARWEALRVESMDRQSRLHD
VLM
ELQKKQLQQLSAWLTLTEERIQKMETCPLDDDVKSLQKLLEEHKSLQSDLEAEQVKVNSL
THMVVIVDENSGESATAILEDQLQKLGERWTAVCRWTEERWNRLQE
INILWQELLEEQCL
LKAWLTEKEEALNKVQTSNFKDQKELSVSVRRLAILKEDMEMKRQTLDQLSEIGQDVGQL
LDNSKASKKINSDSEELTQRWDSLVQRLEDSSNQVTQAVAKLGMSQIPQKDLLETVRVRE
QAITKKSKQELPPPPPPKKRQIHVDIEAKKKFDAISAELLNWILKWKTAIQTTEIKEYMK
MQDTSEMKKKLKALEKEQRERIPRADELNQTGQILVEQMGKEGLPTEEIKNVLEKVSSEW
KNVSQHLEDLERKIQLQEDINAYFKQLDELEKVIKTKEEWVKHTSISESSRQSLPSLKDS
CQRELTNLLGLHPKIEMARASCSALMSQPSAPDFVQRGFDSFLGRYQAVQEAVEDRQQHL
ENELKGQPGHAYLETLKTLKDVLNDSENKAQVSLNVLNDLAKVEKALQEKKTLDEILENQ
KPALHKLAEETKALEKNVHPDVEKLYKQEFDDVQGKWNKLKVLVSKDLHLLEEIALTLRA
FEADSTVIEKWMDGVKDFLMKQQAAQGDDAGLQRQLDQCSAFVNEIETIESSLKNMKEIE
TNLRSGPVAGIKTWVQTRLGDYQTQLEKLSKEIATQKSRLSE
SQEKAANLKKDLAEMQEW
MTQAEEEYLERDFEYKSPEELESAVEEMKRAKEDVLQKEVRVKILKDNIKLLAAKVPSGG
QELTSELNVVLENYQLLCNRIRGKCHTLEE
VWSCWIELLHYLDLETTWLNTLEERMKSTE
VLPEKTDAVNEALESLESVLRHPADNRTQIRELGQTLIDGGILDDIISEKLEAFNSRYED
LSHLAESKQISLEKQLQVLRETDQMLQVLQESLGELDKQLTTYLTDRIDAFQVPQEAQKI
QAEISAHELTLEELRRNMRSQPLTSPESRTARGGSQMDVLQRKLREVSTKFQLFQKPANF
EQRMLDCKRVLDGVKAELHVLDVKDVDPDVIQTHLDKCMKLYKTLSEVKLEVETVIKTGR
HIVQKQQTDNPKGMDEQLTSLKVLYNDLGAQVTEGKQDLERASQLARKMKKEAASLSEWL
SATETELVQKSTSEGLLGDLDTEISWAKNVLKDLEKRKADLNTITESSAALQNLIEGSEP
ILEERLCVLNAGWSRVRTWTEDWCNTLMN
HQNQLEIFDGNVAHISTWLYQAEALLDEIEK
KPTSKQEEIVKRLVSELDDANLQVENVRDQALILMNARGSSSRELVEPKLAELNRNFEKV
SQHIKSAKLLIAQ
EPLYQCLVTTETFETGVPFSDLEKLENDIENMLKFVEKHLESSDEDE
KMDEESAQIEEVLQRGEEMLHQPMEDNKKEKIRLQLLLLHTRYNKIKAIPIQQRKMGQLA
SGIRSSLLPTDYLVEINKILLCMDDVELSLNVPELNTAIYEDFSFQEDSLKNIKDQLDKL
GEQIAVIHEKQPDVILEASGPEAIQIRDTLTQLNAKWDRINRMYSDRKGCFDRAMEEWRQ
FHCDLNDLTQWITEAEELLVDTCAPGGSLDLEKARIHQQELEVGISSHQPSFAALNRTGD
GIVQKLSQADGSFLKEKLAGLNQRWDAIVAEVKDRQPRLKG
ESKQVMKYRHQLDEIICWL
TKAEHAMQKRSTTELGENLQELRDLTQEMEVHAEKLKWLNRTELEMLSDKSLSLPERDKI
SESLRTVNMTWNKICREVPTTLKECIQEPSSVSQTRIAAHPNVQKVVLVSSASDIPVQSH
RTSEISIPADLDKTITELADWLVLIDQMLKSNIVTVGDVEEINKTVSRMKITKADLEQRH
PQLDYVFTLAQNLKNKASSSDMRTAITEKLERVKNQWDGTQHGVELRQQQLED
MIIDSLQ
WDDHREETEELMRKYEARLYILQQARRDPLTKQISDNQILLQELGPGDGIVMAFDNVLQK
LLEEYGSDDTRNVKETTEYLKTSWINLKQSIADRQNALEAEWRTVQASRRDLENFLKWIQ
EAETTVNVLVDASHRENALQDSILARELKQQMQDIQAEIDAHNDIFKSIDGNRQKMVKAL
GNSEEATMLQHRLDDMNQRWNDLKAKSASIRAHLEA
SAEKWNRLLMSLEELIKWLNMKDE
ELKKQMPIGGDVPALQLQYDHCKALRRELKEKEYSVLNAVDQARVFLADQPIEAPEEPRR
NLQSKTELTPEERAQKIAKAMRKQSSEVKEKWESLNAVTSNWQKQVDKALEKLRDLQGAM
DDLDADMKEAESVRNGWKPVGDLLIDSLQDHIEKIMAFREEIAPINFKVKTVNDLSSQLS
PLDLHPSLKMSRQLDDLNMRWKLLQVSVDDRLKQLQE
AHRDFGPSSQHFLSTSVQLPWQR
SISHNKVPYYINHQTQTTCWDHP
KMTELFQSLADLNNVRFSAYRTAIKIRRLQKALCLDL
LELSTTNEIFKQHKLNQNDQLLSVPDVINCLTTTYDGLEQMHKDLVNVPLCVDMCLNWLL
NVYDTGRTGKIRVQSLKIGLMSLS
KGLLEEKYRYLFKEVAGPTEMCDQRQLGLLLHDAIQ
IPRQLGEVAAFGGSNIEPSVRSCFQQNNNKPEISVKEFIDWMHLEPQSMVWLPVLHRVA
A
AETAKHQAKCNICKECPIVGFRYRSLKHFNYDVCQSCFFSGRTAKGHKLHYPMVEYCIPT
TSGEDVRDFTKVLKNKFRSKKYFAKHPRLGYLPVQTVLEGDNLETPITLISMWPEHYDPS
QSPQLFHDDTHSRIEQYATRLAQMERTNGSFLTDSSSTTGSVEDEHALIQQYCQTLGGES
PVSQPQSPAQILKSVEREERGELERIIADLEEEQRNLQVEYEQLKDQHLRRGLPVGSPPE
SIISPHHTSEDSELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPESDS
RINGVSPWASPQHSALSYSLDPDASGPQFHQAAGEDLLAPPHDTSTDLTEVMEQIHSTFP
SCCPNVPSRPQAM
Sequence length 3433
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 29559929 ClinVar
Schizophrenia Schizophrenia GWAS
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Antiphospholipid Syndrome Associate 22529290
Arthrogryposis Associate 20583184
Autism Spectrum Disorder Associate 23333625
Breast Neoplasms Associate 24416132
Carcinoma Hepatocellular Associate 30981110
Carcinoma Ovarian Epithelial Associate 27509055
Cardiomyopathy infantile histiocytoid Associate 25822260
Charcot Marie Tooth disease Type 2B Associate 35851620
Colorectal Neoplasms Associate 37816729
Death Associate 31127452