MID1

GENE INFORMATION

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Gene name

MID1 (HGNC Symbol)

Synonyms

FXY, OS, RNF59, TRIM18

Description

Midline 1 (Opitz/BBB syndrome) (HGNC Symbol)

Entrez gene 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 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. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010]

Chromosome

X

Cytoband

p22.2

Chromosome location (bp)

10413350 - 10851773

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101871 (version 75.37)

Entrez gene

4281

UniProt

O15344 (UniProt - Evidence at protein level)

neXtProt

NX_O15344

Antibodypedia

MID1 antibodies
 

PROTEIN VIEW

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MID1-001
 
MID1-002
 
MID1-003
 
MID1-004
 
MID1-005
 
MID1-006
 
MID1-007
 
MID1-201
 
MID1-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MID1-001 ENSP00000370162
ENST00000380785
O15344
Show all »
Show » Show » 667 75.3 No 0
MID1-002 ENSP00000387771
ENST00000423614
C9JZJ7
Show all »
Show » Show » 197 22.1 No 0
MID1-003 ENSP00000370156
ENST00000380779
O15344
Show all »
Show » Show » 667 75.3 No 0
MID1-004 ENSP00000391154
ENST00000413894
C9J453
Show all »
Show » Show » 483 54.5 No 0
MID1-005 ENSP00000370164
ENST00000380787
O15344
Show all »
Show » Show » 667 75.3 No 0
MID1-006 ENSP00000370157
ENST00000380780
O15344
Show all »
Show » Show » 667 75.3 No 0
MID1-007 ENSP00000370159
ENST00000380782
O15344
Show all »
Show » Show » 552 62.3 No 0
MID1-201 ENSP00000312678
ENST00000317552
O15344
Show all »
Show » Show » 667 75.3 No 0
MID1-202 ENSP00000414521
ENST00000453318
O15344
Show all »
Show » Show » 667 75.3 No 0