Seroatlas · Human Serome Atlas

MTMR1

Phosphatidylinositol-3-phosphate phosphatase MTMR1

Also known as: MTMR1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q13613
Gene: MTMR1
Ensembl: ENSG00000063601
Chromosome: X
Canonical length: 665 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

665 residues, UniProt reviewed canonical sequence.

>Q13613|MTMR1
     1  MDRPAAAAAA GCEGGGGPNP GPAGGRRPPR AAGGATAGSR QPSVETLDSP TGSHVEWCKQ
    61  LIAATISSQI SGSVTSENVS RDYKALRDGN KLAQMEEAPL FPGESIKAIV KDVMYICPFM
   121  GAVSGTLTVT DFKLYFKNVE RDPHFILDVP LGVISRVEKI GAQSHGDNSC GIEIVCKDMR
   181  NLRLAYKQEE QSKLGIFENL NKHAFPLSNG QALFAFSYKE KFPINGWKVY DPVSEYKRQG
   241  LPNESWKISK INSNYEFCDT YPAIIVVPTS VKDDDLSKVA AFRAKGRVPV LSWIHPESQA
   301  TITRCSQPLV GPNDKRCKED EKYLQTIMDA NAQSHKLIIF DARQNSVADT NKTKGGGYES
   361  ESAYPNAELV FLEIHNIHVM RESLRKLKEI VYPSIDEARW LSNVDGTHWL EYIRMLLAGA
   421  VRIADKIESG KTSVVVHCSD GWDRTAQLTS LAMLMLDSYY RTIKGFETLV EKEWISFGHR
   481  FALRVGHGND NHADADRSPI FLQFVDCVWQ MTRQFPSAFE FNELFLITIL DHLYSCLFGT
   541  FLCNCEQQRF KEDVYTKTIS LWSYINSQLD EFSNPFFVNY ENHVLYPVAS LSHLELWVNY
   601  YVRWNPRMRP QMPIHQNLKE LLAVRAELQK RVEGLQREVA TRAVSSSSER GSSPSHSATS
   661  VHTSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTMR1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

thymus: 29 nTPM
tonsil: 24 nTPM
skeletal muscle: 22 nTPM
lymph node: 21 nTPM
skin: 21 nTPM
esophagus: 20 nTPM

Single-cell type

somatotrophs: 139 nCPM
sertoli cells: 129 nCPM
astrocytes: 128 nCPM
thyrotrophs: 127 nCPM
pdcs: 119 nCPM
lactotrophs: 115 nCPM

Immune cell

eosinophil: 5.1 nTPM
plasmacytoid DC: 5.1 nTPM
NK-cell: 4 nTPM
T-reg: 3.3 nTPM
naive CD8 T-cell: 2.9 nTPM
memory CD4 T-cell: 2.4 nTPM

Brain region

hippocampal formation: 36 nTPM
cerebral cortex: 28 nTPM
basal ganglia: 25 nTPM
thalamus: 24 nTPM
amygdala: 23 nTPM
cerebellum: 23 nTPM

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): 0.24
gnomAD pLI: 1
gnomAD missense Z: 2.02
DepMap mean gene effect: -0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

Tyrosine-specific protein phosphatases domain
Protein-tyrosine phosphatase, catalytic
GRAM domain
Myotubularin-like, phosphatase domain
PH-like domain superfamily
Protein-tyrosine phosphatase, active site
Protein-tyrosine phosphatase-like
Myotubularin
GRAM domain
Myotubularin-like phosphatase domain
MTMR1, protein tyrosine phosphatase domain
MTMR1, PH-GRAM

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MTMR1 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 MTMR1 as an antibody target. Whether an autoantibody or antibody against MTMR1 could matter depends on whether native MTMR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MTMR1 is annotated at the cell surface, where native MTMR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MTMR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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