Gene Gene information from NCBI Gene database.
Entrez ID 4281
Gene name Midline 1
Gene symbol MID1
Synonyms (NCBI Gene)
BBBG1FXYGBBBGBBB1MIDINOGS1OSOSXRNF59TRIM18XPRFZNFXY
Chromosome X
Chromosome location Xp22.2
Summary The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the `RING-B box-coiled coil` (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box
SNPs SNP information provided by dbSNP.
30
SNP ID Visualize variation Clinical significance Consequence
rs28934611 A>G Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs104894865 C>A,G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs104894866 A>G Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs138558359 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
rs138629923 G>A Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
285
miRTarBase ID miRNA Experiments Reference
MIRT031316 hsa-miR-18a-5p Sequencing 20371350
MIRT045601 hsa-miR-149-5p CLASH 23622248
MIRT038328 hsa-miR-130b-5p CLASH 23622248
MIRT437876 hsa-miR-135b-5p Luciferase reporter assayWestern blot 23623609
MIRT535941 hsa-miR-922 PAR-CLIP 22012620
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Unknown 24913494
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization TAS 10077590
GO:0005515 Function Protein binding IPI 19549727, 21516116, 25416956, 25910212, 26496610, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300552 7095 ENSG00000101871
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15344
Protein name E3 ubiquitin-protein ligase Midline-1 (EC 2.3.2.27) (Midin) (Putative transcription factor XPRF) (RING finger protein 59) (RING finger protein Midline-1) (RING-type E3 ubiquitin transferase Midline-1) (Tripartite motif-containing protein 18)
Protein function Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination. {ECO:0000269|PubMed:10400
PDB 2DQ5 , 2FFW , 2JUN , 5IM8 , 7QRY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13445 zf-RING_UBOX 10 57 RING-type zinc-finger Domain
PF00643 zf-B_box 171 212 B-box zinc finger Domain
PF18568 COS 323 374 TRIM C-terminal subgroup One Signature domain Domain
PF00041 fn3 380 475 Fibronectin type III domain Domain
PF13765 PRY 486 527 SPRY-associated domain Family
PF00622 SPRY 540 655 SPRY domain Family
Tissue specificity TISSUE SPECIFICITY: In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.
Sequence
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCR
HVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQ
FCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHED
EKVNMYCVTDDQLICALCKLVGRHRDHQVAAL
SERYDKLKQNLESNLTNLIKRNTELETL
LAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIA
NCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFD
TFALDFSREKKLLE
CLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSE
PGKLK
TNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGR
HYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPH
LRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLP
IPDHL
DCTEQLP
Sequence length 667
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Interferon gamma signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
94
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dandy-Walker syndrome Pathogenic rs1555895704 RCV001263107
MID1-related disorder Likely pathogenic rs2518968860, rs2518959444 RCV003391629
RCV004731559
Thyroid cancer, nonmedullary, 1 Pathogenic rs2519201544 RCV005931567
X-linked Opitz G/BBB syndrome Likely pathogenic; Pathogenic rs2147252384, rs2147252300, rs1555895725, rs2147266860, rs2147299486, rs2147369813, rs2147287460, rs398123342, rs1569270035, rs1569268013, rs28934611, rs104894865, rs104894866, rs1569268029, rs2518960109
View all (14 more)
RCV001530195
RCV001730030
RCV001733877
RCV001808045
RCV001843827
RCV002245296
RCV002279783
RCV003151702
RCV000011552
RCV000011554
RCV000011555
RCV000011556
RCV000011558
RCV000011559
RCV003314510
RCV004515762
RCV004555247
RCV000022867
RCV000659854
RCV000659858
RCV000659857
RCV000659855
RCV000659853
RCV000659852
RCV000659850
RCV000659849
RCV000659848
RCV000754789
RCV001249712
RCV001261288
RCV001270717
RCV000173680
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Uncertain significance rs1556001939 RCV000626680
Clinodactyly of the 5th finger Uncertain significance rs1556001939 RCV000626680
Corpus callosum, agenesis of Uncertain significance rs1556001939 RCV000626680
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs1934586055 RCV004557802
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Associate 27251476
Cleft Lip Associate 28548391
Communication Disorders Associate 38238086
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 21555591
Developmental Disabilities Associate 11806752, 27251476, 28760657
Dincsoy Salih Patel syndrome Associate 21930711, 29293623
Distal myopathy Nonaka type Associate 37498300
Familial Mediterranean Fever Associate 19153241
Heart Defects Congenital Associate 22318994
Hernias Diaphragmatic Congenital Associate 32954677