Seroatlas · Human Serome Atlas

SMG6

Telomerase-binding protein EST1A

Also known as: C17orf31, EST1A, EST1A_HUMAN, KIAA0732, SMG-6

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

Protein identityUniProt · HPA

UniProt accession: Q86US8
Gene: SMG6
Ensembl: ENSG00000070366
Chromosome: 17
Canonical length: 1419 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoli,Plasma membrane,Basal body,Cytosol
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

1419 residues, UniProt reviewed canonical sequence.

>Q86US8|SMG6
     1  MAEGLERVRI SASELRGILA TLAPQAGSRE NMKELKEARP RKDNRRPDLE IYKPGLSRLR
    61  NKPKIKEPPG SEEFKDEIVN DRDCSAVENG TQPVKDVCKE LNNQEQNGPI DPENNRGQES
   121  FPRTAGQEDR SLKIIKRTKK PDLQIYQPGR RLQTVSKESA SRVEEEEVLN QVEQLRVEED
   181  ECRGNVAKEE VANKPDRAEI EKSPGGGRVG AAKGEKGKRM GKGEGVRETH DDPARGRPGS
   241  AKRYSRSDKR RNRYRTRSTS SAGSNNSAEG AGLTDNGCRR RRQDRTKERP RLKKQVSVSS
   301  TDSLDEDRID EPDGLGPRRS SERKRHLERN WSGRGEGEQK NSAKEYRGTL RVTFDAEAMN
   361  KESPMVRSAR DDMDRGKPDK GLSSGGKGSE KQESKNPKQE LRGRGRGILI LPAHTTLSVN
   421  SAGSPESAPL GPRLLFGSGS KGSRSWGRGG TTRRLWDPNN PDQKPALKTQ TPQLHFLDTD
   481  DEVSPTSWGD SRQAQASYYK FQNSDNPYYY PRTPGPASQY PYTGYNPLQY PVGPTNGVYP
   541  GPYYPGYPTP SGQYVCSPLP TSTMSPEEVE QHMRNLQQQE LHRLLRVADN QELQLSNLLS
   601  RDRISPEGLE KMAQLRAELL QLYERCILLD IEFSDNQNVD QILWKNAFYQ VIEKFRQLVK
   661  DPNVENPEQI RNRLLELLDE GSDFFDSLLQ KLQVTYKFKL EDYMDGLAIR SKPLRKTVKY
   721  ALISAQRCMI CQGDIARYRE QASDTANYGK ARSWYLKAQH IAPKNGRPYN QLALLAVYTR
   781  RKLDAVYYYM RSLAASNPIL TAKESLMSLF EETKRKAEQM EKKQHEEFDL SPDQWRKGKK
   841  STFRHVGDDT TRLEIWIHPS HPRSSQGTES GKDSEQENGL GSLSPSDLNK RFILSFLHAH
   901  GKLFTRIGME TFPAVAEKVL KEFQVLLQHS PSPIGSTRML QLMTINMFAV HNSQLKDCFS
   961  EECRSVIQEQ AAALGLAMFS LLVRRCTCLL KESAKAQLSS PEDQDDQDDI KVSSFVPDLK
  1021  ELLPSVKVWS DWMLGYPDTW NPPPTSLDLP SHVAVDVWST LADFCNILTA VNQSEVPLYK
  1081  DPDDDLTLLI LEEDRLLSGF VPLLAAPQDP CYVEKTSDKV IAADCKRVTV LKYFLEALCG
  1141  QEEPLLAFKG GKYVSVAPVP DTMGKEMGSQ EGTRLEDEEE DVVIEDFEED SEAEGSGGED
  1201  DIRELRAKKL ALARKIAEQQ RRQEKIQAVL EDHSQMRQME LEIRPLFLVP DTNGFIDHLA
  1261  SLARLLESRK YILVVPLIVI NELDGLAKGQ ETDHRAGGYA RVVQEKARKS IEFLEQRFES
  1321  RDSCLRALTS RGNELESIAF RSEDITGQLG NNDDLILSCC LHYCKDKAKD FMPASKEEPI
  1381  RLLREVVLLT DDRNLRVKAL TRNVPVRDIP AFLTWAQVG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMG6 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: 33 nTPM

Expression across tissuesHPA

Tissue

ovary: 33 nTPM
endometrium: 25 nTPM
thymus: 22 nTPM
fallopian tube: 20 nTPM
testis: 18 nTPM
smooth muscle: 18 nTPM

Single-cell type

fibro-adipogenic progenitors: 401 nCPM
cone photoreceptor cells: 335 nCPM
neutrophil progenitors: 305 nCPM
myonuclei: 304 nCPM
somatotrophs: 283 nCPM
undifferentiated spermatogonia: 270 nCPM

Immune cell

basophil: 3 nTPM
NK-cell: 1.9 nTPM
non-classical monocyte: 1.7 nTPM
naive CD4 T-cell: 1.5 nTPM
gdT-cell: 1.3 nTPM
MAIT T-cell: 1.3 nTPM

Brain region

medulla oblongata: 63 nTPM
hypothalamus: 58 nTPM
midbrain: 57 nTPM
cerebellum: 56 nTPM
thalamus: 53 nTPM
cerebral cortex: 53 nTPM

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): 0.3
gnomAD pLI: 0.98
gnomAD missense Z: 0.18
DepMap mean gene effect: -0.95
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

InteractionsUniProt · HPA

Protein binding partners of SMG6 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 SMG6 as an antibody target. Whether an autoantibody or antibody against SMG6 could matter depends on whether native SMG6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMG6 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 SMG6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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