Seroatlas · Human Serome Atlas

TTLL5

Tubulin polyglutamylase TTLL5

Also known as: KIAA0998, STAMP, TTLL5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6EMB2
Gene: TTLL5
Ensembl: ENSG00000119685
Chromosome: 14
Canonical length: 1281 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

1281 residues, UniProt reviewed canonical sequence.

>Q6EMB2|TTLL5
     1  MPIVMARDLE ETASSSEDEE VISQEDHPCI MWTGGCRRIP VLVFHADAIL TKDNNIRVIG
    61  ERYHLSYKIV RTDSRLVRSI LTAHGFHEVH PSSTDYNLMW TGSHLKPFLL RTLSEAQKVN
   121  HFPRSYELTR KDRLYKNIIR MQHTHGFKAF HILPQTFLLP AEYAEFCNSY SKDRGPWIVK
   181  PVASSRGRGV YLINNPNQIS LEENILVSRY INNPLLIDDF KFDVRLYVLV TSYDPLVIYL
   241  YEEGLARFAT VRYDQGAKNI RNQFMHLTNY SVNKKSGDYV SCDDPEVEDY GNKWSMSAML
   301  RYLKQEGRDT TALMAHVEDL IIKTIISAEL AIATACKTFV PHRSSCFELY GFDVLIDSTL
   361  KPWLLEVNLS PSLACDAPLD LKIKASMISD MFTVVGFVCQ DPAQRASTRP IYPTFESSRR
   421  NPFQKPQRCR PLSASDAEMK NLVGSAREKG PGKLGGSVLG LSMEEIKVLR RVKEENDRRG
   481  GFIRIFPTSE TWEIYGSYLE HKTSMNYMLA TRLFQDRMTA DGAPELKIES LNSKAKLHAA
   541  LYERKLLSLE VRKRRRRSSR LRAMRPKYPV ITQPAEMNVK TETESEEEEE VALDNEDEEQ
   601  EASQEESAGF LRENQAKYTP SLTALVENTP KENSMKVREW NNKGGHCCKL ETQELEPKFN
   661  LMQILQDNGN LSKMQARIAF SAYLQHVQIR LMKDSGGQTF SASWAAKEDE QMELVVRFLK
   721  RASNNLQHSL RMVLPSRRLA LLERRRILAH QLGDFIIVYN KETEQMAEKK SKKKVEEEEE
   781  DGVNMENFQE FIRQASEAEL EEVLTFYTQK NKSASVFLGT HSKISKNNNN YSDSGAKGDH
   841  PETIMEEVKI KPPKQQQTTE IHSDKLSRFT TSAEKEAKLV YSNSSSGPTA TLQKIPNTHL
   901  SSVTTSDLSP GPCHHSSLSQ IPSAIPSMPH QPTILLNTVS ASASPCLHPG AQNIPSPTGL
   961  PRCRSGSHTI GPFSSFQSAA HIYSQKLSRP SSAKAGSCYL NKHHSGIAKT QKEGEDASLY
  1021  SKRYNQSMVT AELQRLAEKQ AARQYSPSSH INLLTQQVTN LNLATGIINR SSASAPPTLR
  1081  PIISPSGPTW STQSDPQAPE NHSSSPGSRS LQTGGFAWEG EVENNVYSQA TGVVPQHKYH
  1141  PTAGSYQLQF ALQQLEQQKL QSRQLLDQSR ARHQAIFGSQ TLPNSNLWTM NNGAGCRISS
  1201  ATASGQKPTT LPQKVVPPPS SCASLVPKPP PNHEQVLRRA TSQKASKGSS AEGQLNGLQS
  1261  SLNPAAFVPI TSSTDPAHTK I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTLL5 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: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 54 nTPM

Expression across tissuesHPA

Tissue

testis: 54 nTPM
retina: 22 nTPM
spinal cord: 13 nTPM
choroid plexus: 13 nTPM
bone marrow: 11 nTPM
fallopian tube: 11 nTPM

Single-cell type

cone photoreceptor cells: 511 nCPM
ependymal cells: 491 nCPM
rod photoreceptor cells: 477 nCPM
endometrial ciliated cells: 427 nCPM
choroid plexus epithelial cells: 388 nCPM
respiratory ciliated cells: 353 nCPM

Immune cell

basophil: 12 nTPM
plasmacytoid DC: 3.4 nTPM
myeloid DC: 3.2 nTPM
naive CD4 T-cell: 2.9 nTPM
memory CD8 T-cell: 2.7 nTPM
naive CD8 T-cell: 2.7 nTPM

Brain region

choroid plexus: 48 nTPM
white matter: 39 nTPM
pons: 39 nTPM
medulla oblongata: 38 nTPM
cerebellum: 31 nTPM
cerebral cortex: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTLL5.

Disease | AllUniProt

Conditions TTLL5 is implicated in, by any mechanism.

Cone-rod dystrophy 19 (CORD19) MIM:615860

Disease | GeneticClinVar

101 pathogenic / likely-pathogenic of 1,132 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cone-rod dystrophy 19
Retinal dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
TTLL5-related disorder

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): 0.76
gnomAD pLI: 0
gnomAD missense Z: -0.04
DepMap mean gene effect: -0.15
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TTLL5 as an antibody target. Whether an autoantibody or antibody against TTLL5 could matter depends on whether native TTLL5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TTLL5 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 TTLL5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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