Seroatlas · Human Serome Atlas

TMTC3

Protein O-mannosyl-transferase TMTC3

Also known as: FLJ90492, SMILE, TMTC3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6ZXV5
Gene: TMTC3
Ensembl: ENSG00000139324
Chromosome: 12
Canonical length: 915 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

915 residues, UniProt reviewed canonical sequence.

>Q6ZXV5|TMTC3
     1  MANINLKEIT LIVGVVTACY WNSLFCGFVF DDVSAILDNK DLHPSTPLKT LFQNDFWGTP
    61  MSEERSHKSY RPLTVLTFRL NYLLSELKPM SYHLLNMIFH AVVSVIFLKV CKLFLDNKSS
   121  VIASLLFAVH PIHTEAVTGV VGRAELLSSI FFLAAFLSYT RSKGPDNSII WTPIALTVFL
   181  VAVATLCKEQ GITVVGICCV YEVFIAQGYT LPLLCTTAGQ FLRGKGSIPF SMLQTLVKLI
   241  VLMFSTLLLV VIRVQVIQSQ LPVFTRFDNP AAVSPTPTRQ LTFNYLLPVN AWLLLNPSEL
   301  CCDWTMGTIP LIESLLDIRN LATFTFFCFL GMLGVFSIRY SGDSSKTVLM ALCLMALPFI
   361  PASNLFFPVG FVVAERVLYV PSMGFCILVA HGWQKISTKS VFKKLSWICL SMVILTHSLK
   421  TFHRNWDWES EYTLFMSALK VNKNNAKLWN NVGHALENEK NFERALKYFL QATHVQPDDI
   481  GAHMNVGRTY KNLNRTKEAE ESYMMAKSLM PQIIPGKKYA ARIAPNHLNV YINLANLIRA
   541  NESRLEEADQ LYRQAISMRP DFKQAYISRG ELLLKMNKPL KAKEAYLKAL ELDRNNADLW
   601  YNLAIVHIEL KEPNEALKKN FNRALELNPK HKLALFNSAI VMQESGEVKL RPEARKRLLS
   661  YINEEPLDAN GYFNLGMLAM DDKKDNEAEI WMKKAIKLQA DFRSALFNLA LLYSQTAKEL
   721  KALPILEELL RYYPDHIKGL ILKGDILMNQ KKDILGAKKC FERILEMDPS NVQGKHNLCV
   781  VYFEEKDLLK AERCLLETLA LAPHEEYIQR HLNIVRDKIS SSSFIEPIFP TSKISSVEGK
   841  KIPTESVKEI RGESRQTQIV KTSDNKSQSK SNKQLGKNGD EETPHKTTKD IKEIEKKRVA
   901  ALKRLEEIER ILNGE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMTC3 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: 10
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

skin: 12 nTPM
placenta: 9.5 nTPM
smooth muscle: 8.6 nTPM
esophagus: 8.5 nTPM
liver: 8.4 nTPM
kidney: 7.5 nTPM

Single-cell type

respiratory ionocytes: 170 nCPM
ocular epithelial cells: 122 nCPM
salivary ionocytes: 86 nCPM
prostatic hillock cells: 69 nCPM
respiratory ciliated cells: 66 nCPM
gonadotrophs: 61 nCPM

Immune cell

basophil: 8.6 nTPM
memory B-cell: 2.6 nTPM
naive CD4 T-cell: 2.6 nTPM
eosinophil: 2.4 nTPM
MAIT T-cell: 2.4 nTPM
memory CD4 T-cell: 2.2 nTPM

Brain region

cerebellum: 17 nTPM
hypothalamus: 14 nTPM
cerebral cortex: 14 nTPM
pons: 14 nTPM
midbrain: 13 nTPM
white matter: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMTC3.

Disease | AllUniProt

Conditions TMTC3 is implicated in, by any mechanism.

Lissencephaly 8 (LIS8) MIM:617255

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 295 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lissencephaly 8

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): 0.56
gnomAD pLI: 0
gnomAD missense Z: 1.62
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

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMTC3 as an antibody target. Whether an autoantibody or antibody against TMTC3 could matter depends on whether native TMTC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMTC3 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 TMTC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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