Seroatlas · Human Serome Atlas

TMTC4

Protein O-mannosyl-transferase TMTC4

Also known as: FLJ14624, FLJ22153, TMTC4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5T4D3
Gene: TMTC4
Ensembl: ENSG00000125247
Chromosome: 13
Canonical length: 741 aa
Protein class: Enzymes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

741 residues, UniProt reviewed canonical sequence.

>Q5T4D3|TMTC4
     1  MAVLDTDLDH ILPSSVLPPF WAKLVVGSVA IVCFARSYDG DFVFDDSEAI VNNKDLQAET
    61  PLGDLWHHDF WGSRLSSNTS HKSYRPLTVL TFRINYYLSG GFHPVGFHVV NILLHSGISV
   121  LMVDVFSVLF GGLQYTSKGR RLHLAPRASL LAALLFAVHP VHTECVAGVV GRADLLCALF
   181  FLLSFLGYCK AFRESNKEGA HSSTFWVLLS IFLGAVAMLC KEQGITVLGL NAVFDILVIG
   241  KFNVLEIVQK VLHKDKSLEN LGMLRNGGLL FRMTLLTSGG AGMLYVRWRI MGTGPPAFTE
   301  VDNPASFADS MLVRAVNYNY YYSLNAWLLL CPWWLCFDWS MGCIPLIKSI SDWRVIALAA
   361  LWFCLIGLIC QALCSEDGHK RRILTLGLGF LVIPFLPASN LFFRVGFVVA ERVLYLPSVG
   421  YCVLLTFGFG ALSKHTKKKK LIAAVVLGIL FINTLRCVLR SGEWRSEEQL FRSALSVCPL
   481  NAKVHYNIGK NLADKGNQTA AIRYYREAVR LNPKYVHAMN NLGNILKERN ELQEAEELLS
   541  LAVQIQPDFA AAWMNLGIVQ NSLKRFEAAE QSYRTAIKHR RKYPDCYYNL GRLYADLNRH
   601  VDALNAWRNA TVLKPEHSLA WNNMIILLDN TGNLAQAEAV GREALELIPN DHSLMFSLAN
   661  VLGKSQKYKE SEALFLKAIK ANPNAASYHG NLAVLYHRWG HLDLAKKHYE ISLQLDPTAS
   721  GTKENYGLLR RKLELMQKKA V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMTC4 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: 11
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 24 nTPM
hippocampal formation: 15 nTPM
cerebral cortex: 14 nTPM
fallopian tube: 14 nTPM
midbrain: 13 nTPM
skeletal muscle: 13 nTPM

Single-cell type

oligodendrocytes: 245 nCPM
thyrotrophs: 61 nCPM
retinal amacrine cells: 60 nCPM
retinal horizontal cells: 56 nCPM
proximal tubule cells: 55 nCPM
parietal cells: 55 nCPM

Immune cell

myeloid DC: 3.3 nTPM
plasmacytoid DC: 2.3 nTPM
memory CD8 T-cell: 2.1 nTPM
T-reg: 2.1 nTPM
non-classical monocyte: 1.8 nTPM
naive CD4 T-cell: 1.5 nTPM

Brain region

white matter: 57 nTPM
basal ganglia: 38 nTPM
medulla oblongata: 38 nTPM
pons: 37 nTPM
cerebral cortex: 33 nTPM
midbrain: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMTC4.

Disease | AllUniProt

Conditions TMTC4 is implicated in, by any mechanism.

Deafness, autosomal recessive, 122 (DFNB122) MIM:620714

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 161 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hearing loss, autosomal recessive 122

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): 0.78
gnomAD pLI: 0
gnomAD missense Z: 0.18
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 TMTC4 as an antibody target. Whether an autoantibody or antibody against TMTC4 could matter depends on whether native TMTC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMTC4 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 TMTC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...