Seroatlas · Human Serome Atlas

MID1

E3 ubiquitin-protein ligase Midline-1

Also known as: FXY, OS, RNF59, TRI18_HUMAN, TRIM18

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

Protein identityUniProt · HPA

UniProt accession: O15344
Gene: MID1
Ensembl: ENSG00000101871
Chromosome: X
Canonical length: 667 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus,Centriolar satellite,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

667 residues, UniProt reviewed canonical sequence.

>O15344|MID1
     1  METLESELTC PICLELFEDP LLLPCAHSLC FNCAHRILVS HCATNESVES ITAFQCPTCR
    61  HVITLSQRGL DGLKRNVTLQ NIIDRFQKAS VSGPNSPSET RRERAFDANT MTSAEKVLCQ
   121  FCDQDPAQDA VKTCVTCEVS YCDECLKATH PNKKPFTGHR LIEPIPDSHI RGLMCLEHED
   181  EKVNMYCVTD DQLICALCKL VGRHRDHQVA ALSERYDKLK QNLESNLTNL IKRNTELETL
   241  LAKLIQTCQH VEVNASRQEA KLTEECDLLI EIIQQRRQII GTKIKEGKVM RLRKLAQQIA
   301  NCKQCIERSA SLISQAEHSL KENDHARFLQ TAKNITERVS MATASSQVLI PEINLNDTFD
   361  TFALDFSREK KLLECLDYLT APNPPTIREE LCTASYDTIT VHWTSDDEFS VVSYELQYTI
   421  FTGQANVVSL CNSADSWMIV PNIKQNHYTV HGLQSGTKYI FMVKAINQAG SRSSEPGKLK
   481  TNSQPFKLDP KSAHRKLKVS HDNLTVERDE SSSKKSHTPE RFTSQGSYGV AGNVFIDSGR
   541  HYWEVVISGS TWYAIGLAYK SAPKHEWIGK NSASWALCRC NNNWVVRHNS KEIPIEPAPH
   601  LRRVGILLDY DNGSIAFYDA LNSIHLYTFD VAFAQPVCPT FTVWNKCLTI ITGLPIPDHL
   661  DCTEQLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MID1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

colon: 16 nTPM
seminal vesicle: 13 nTPM
smooth muscle: 12 nTPM
retina: 12 nTPM
urinary bladder: 11 nTPM
prostate: 10 nTPM

Single-cell type

endometrial ciliated cells: 1,190 nCPM
retinal horizontal cells: 671 nCPM
urothelial cells: 600 nCPM
endometrial luminal cells: 497 nCPM
renal connecting tubule cells: 435 nCPM
pituitary stem cells: 416 nCPM

Immune cell

basophil: 0.9 nTPM
eosinophil: 0.5 nTPM
neutrophil: 0.4 nTPM
plasmacytoid DC: 0.3 nTPM
naive B-cell: 0.2 nTPM
gdT-cell: 0.1 nTPM

Brain region

cerebellum: 36 nTPM
midbrain: 24 nTPM
hypothalamus: 20 nTPM
basal ganglia: 19 nTPM
choroid plexus: 17 nTPM
hippocampal formation: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MID1.

Disease | AllUniProt

Conditions MID1 is implicated in, by any mechanism.

Opitz GBBB syndrome (GBBB) MIM:300000

Disease | GeneticClinVar

72 pathogenic / likely-pathogenic of 581 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked Opitz G/BBB syndrome
Inborn genetic diseases
MID1-related disorder
Dandy-Walker syndrome
Thyroid cancer, nonmedullary, 1

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): 0.3
gnomAD pLI: 0.98
gnomAD missense Z: 2.92
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 MID1 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 MID1 as an antibody target. Whether an autoantibody or antibody against MID1 could matter depends on whether native MID1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MID1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MID1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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