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Gene: MID1 (midline 1) Homo sapiens
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Symbol: MID1
Name: midline 1
Description: 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 type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BBBG1; E3 ubiquitin-protein ligase Midline-1; FLJ57031; FLJ58683; FLJ76288; FXY; GBBB1; MIDIN; midline 1 RING finger protein; midline-1; OGS1; Opitz/BBB syndrome; OS; OSX; putative transcription factor XPRF; RING finger protein 59; RING finger protein Midline-1; RING-type E3 ubiquitin transferase Midline-1; RNF59; TRIM18; tripartite motif protein TRIM18; tripartite motif-containing protein 18; XPRF; zinc finger on X and Y, mouse, homolog of; ZNFXY
Orthologs:
Mus musculus (house mouse) : Mid1 (midline 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mid1 (midline 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mid1 (midline 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MID1 (midline 1)
Canis lupus familiaris (dog) : MID1 (midline 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mid1 (midline 1)
Sus scrofa (pig) : MID1 (midline 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X10,445,310 - 10,833,690 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X10,413,350 - 10,851,829 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X10,373,596 - 10,761,730 (-)NCBINCBI36hg18NCBI36
Build 34X10,225,901 - 10,398,195NCBI
CeleraX14,584,610 - 14,973,762 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,245,662 - 8,632,012 (-)NCBIHuRef
CHM1_1X10,443,740 - 10,882,213 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MID1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732275
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.