Seroatlas · Human Serome Atlas

TCTN1

Tectonic-1

Also known as: FLJ21127, JBTS13, TECT1, TECT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q2MV58
Gene: TCTN1
Ensembl: ENSG00000204852
Chromosome: 12
Canonical length: 587 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Actin filaments,Primary cilium
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

587 residues, UniProt reviewed canonical sequence.

>Q2MV58|TCTN1
     1  MRPRGLPPLL VVLLGCWASV SAQTDATPAV TTEGLNSTEA ALATFGTFPS TRPPGTPRAP
    61  GPSSGPRPTP VTDVAVLCVC DLSPAQCDIN CCCDPDCSSV DFSVFSACSV PVVTGDSQFC
   121  SQKAVIYSLN FTANPPQRVF ELVDQINPSI FCIHITNYKP ALSFINPEVP DENNFDTLMK
   181  TSDGFTLNAE SYVSFTTKLD IPTAAKYEYG VPLQTSDSFL RFPSSLTSSL CTDNNPAAFL
   241  VNQAVKCTRK INLEQCEEIE ALSMAFYSSP EILRVPDSRK KVPITVQSIV IQSLNKTLTR
   301  REDTDVLQPT LVNAGHFSLC VNVVLEVKYS LTYTDAGEVT KADLSFVLGT VSSVVVPLQQ
   361  KFEIHFLQEN TQPVPLSGNP GYVVGLPLAA GFQPHKGSGI IQTTNRYGQL TILHSTTEQD
   421  CLALEGVRTP VLFGYTMQSG CKLRLTGALP CQLVAQKVKS LLWGQGFPDY VAPFGNSQAQ
   481  DMLDWVPIHF ITQSFNRKDS CQLPGALVIE VKWTKYGSLL NPQAKIVNVT ANLISSSFPE
   541  ANSGNERTIL ISTAVTFVDV SAPAEAGFRA PPAINARLPF NFFFPFV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCTN1 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 32 nTPM
fallopian tube: 14 nTPM
parathyroid gland: 14 nTPM
pituitary gland: 14 nTPM
heart muscle: 13 nTPM
testis: 12 nTPM

Single-cell type

fallopian tube ciliated cells: 304 nCPM
respiratory ciliated cells: 278 nCPM
epididymal efferent duct ciliated cells: 192 nCPM
choroid plexus epithelial cells: 149 nCPM
ependymal cells: 149 nCPM
endometrial ciliated cells: 118 nCPM

Immune cell

naive B-cell: 9.2 nTPM
neutrophil: 6.5 nTPM
memory B-cell: 5 nTPM
plasmacytoid DC: 4.4 nTPM
intermediate monocyte: 3.7 nTPM
myeloid DC: 3.4 nTPM

Brain region

choroid plexus: 51 nTPM
cerebellum: 27 nTPM
cerebral cortex: 23 nTPM
white matter: 22 nTPM
hippocampal formation: 20 nTPM
midbrain: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCTN1.

Disease | AllUniProt

Conditions TCTN1 is implicated in, by any mechanism.

Joubert syndrome 13 (JBTS13) MIM:614173

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 509 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 1.23
gnomAD pLI: 0
gnomAD missense Z: 0.61
DepMap mean gene effect: -0.08
DepMap dependency class: selective

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

cilium assembly
dorsal/ventral neural tube patterning
in utero embryonic development
neural tube formation
protein localization to ciliary transition zone
regulation of smoothened signaling pathway
somatic motor neuron differentiation
telencephalon development
central nervous system interneuron axonogenesis

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TCTN1 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 TCTN1 as an antibody target. Whether an autoantibody or antibody against TCTN1 could matter depends on whether native TCTN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TCTN1 is annotated as secreted, so native TCTN1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label TCTN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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