Seroatlas · Human Serome Atlas

TAPT1

Transmembrane anterior posterior transformation protein 1 homolog

Also known as: FLJ90013, TAPT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6NXT6
Gene: TAPT1
Ensembl: ENSG00000169762
Chromosome: 4
Canonical length: 567 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location: Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

Canonical amino-acid sequenceUniProt

567 residues, UniProt reviewed canonical sequence.

>Q6NXT6|TAPT1
     1  MAGVGDAAAP GEGGGGGVDG PQRDGRGEAE QPGGSGGQGP PPAPQLTETL GFYESDRRRE
    61  RRRGRTELSL LRFLSAELTR GYFLEHNEAK YTERRERVYT CLRIPRELEK LMVFGIFLCL
   121  DAFLYVFTLL PLRVFLALFR LLTLPCYGLR DRRLLQPAQV CDILKGVILV ICYFMMHYVD
   181  YSMMYHLIRG QSVIKLYIIY NMLEVADRLF SSFGQDILDA LYWTATEPKE RKRAHIGVIP
   241  HFFMAVLYVF LHAILIMVQA TTLNVAFNSH NKSLLTIMMS NNFVEIKGSV FKKFEKNNLF
   301  QMSNSDIKER FTNYVLLLIV CLRNMEQFSW NPDHLWVLFP DVCMVIASEI AVDIVKHAFI
   361  TKFNDITADV YSEYRASLAF DLVSSRQKNA YTDYSDSVAR RMGFIPLPLA VLLIRVVTSS
   421  IKVQGILSYA CVILFYFGLI SLKVLNSIVL LGKSCQYVKE AKMEEKLSNP PATCTPGKPS
   481  SKSQNKCKPS QGLSTEENLS ASITKQPIHQ KENIIPLLVT SNSDQFLTTP DGDEKDITQD
   541  NSELKHRSSK KDLLEIDRFT ICGNRID

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TAPT1 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: 5
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 33 nTPM
liver: 29 nTPM
bone marrow: 24 nTPM
retina: 23 nTPM
tongue: 19 nTPM
spinal cord: 15 nTPM

Single-cell type

late spermatids: 299 nCPM
neutrophil progenitors: 230 nCPM
myonuclei: 204 nCPM
cone photoreceptor cells: 193 nCPM
alveolar cells type 2: 127 nCPM
lactotrophs: 121 nCPM

Immune cell

naive B-cell: 2.5 nTPM
basophil: 1.1 nTPM
memory B-cell: 1 nTPM
naive CD4 T-cell: 0.9 nTPM
plasmacytoid DC: 0.8 nTPM
memory CD4 T-cell: 0.7 nTPM

Brain region

white matter: 18 nTPM
medulla oblongata: 16 nTPM
pons: 16 nTPM
basal ganglia: 16 nTPM
thalamus: 14 nTPM
amygdala: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TAPT1.

Disease | AllUniProt

Conditions TAPT1 is implicated in, by any mechanism.

Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) MIM:616897

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 344 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Complex lethal osteochondrodysplasia

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: 0.03
gnomAD missense Z: 1.92
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

growth hormone-releasing hormone receptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Tapt1 family
Eukaryotic membrane protein family

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TAPT1 as an antibody target. Whether an autoantibody or antibody against TAPT1 could matter depends on whether native TAPT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TAPT1 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 TAPT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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