Seroatlas · Human Serome Atlas

ESYT1

Extended synaptotagmin-1

Also known as: ESYT1_HUMAN, FAM62A, KIAA0747, MBC2

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

Protein identityUniProt · HPA

UniProt accession: Q9BSJ8
Gene: ESYT1
Ensembl: ENSG00000139641
Chromosome: 12
Canonical length: 1104 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

Enables identical protein binding activity and phospholipid transfer activity. Involved in intermembrane lipid transfer. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1104 residues, UniProt reviewed canonical sequence.

>Q9BSJ8|ESYT1
     1  MERSPGEGPS PSPMDQPSAP SDPTDQPPAA HAKPDPGSGG QPAGPGAAGE ALAVLTSFGR
    61  RLLVLIPVYL AGAVGLSVGF VLFGLALYLG WRRVRDEKER SLRAARQLLD DEEQLTAKTL
   121  YMSHRELPAW VSFPDVEKAE WLNKIVAQVW PFLGQYMEKL LAETVAPAVR GSNPHLQTFT
   181  FTRVELGEKP LRIIGVKVHP GQRKEQILLD LNISYVGDVQ IDVEVKKYFC KAGVKGMQLH
   241  GVLRVILEPL IGDLPFVGAV SMFFIRRPTL DINWTGMTNL LDIPGLSSLS DTMIMDSIAA
   301  FLVLPNRLLV PLVPDLQDVA QLRSPLPRGI IRIHLLAARG LSSKDKYVKG LIEGKSDPYA
   361  LVRLGTQTFC SRVIDEELNP QWGETYEVMV HEVPGQEIEV EVFDKDPDKD DFLGRMKLDV
   421  GKVLQASVLD DWFPLQGGQG QVHLRLEWLS LLSDAEKLEQ VLQWNWGVSS RPDPPSAAIL
   481  VVYLDRAQDL PLKKGNKEPN PMVQLSIQDV TQESKAVYST NCPVWEEAFR FFLQDPQSQE
   541  LDVQVKDDSR ALTLGALTLP LARLLTAPEL ILDQWFQLSS SGPNSRLYMK LVMRILYLDS
   601  SEICFPTVPG CPGAWDVDSE NPQRGSSVDA PPRPCHTTPD SQFGTEHVLR IHVLEAQDLI
   661  AKDRFLGGLV KGKSDPYVKL KLAGRSFRSH VVREDLNPRW NEVFEVIVTS VPGQELEVEV
   721  FDKDLDKDDF LGRCKVRLTT VLNSGFLDEW LTLEDVPSGR LHLRLERLTP RPTAAELEEV
   781  LQVNSLIQTQ KSAELAAALL SIYMERAEDL PLRKGTKHLS PYATLTVGDS SHKTKTISQT
   841  SAPVWDESAS FLIRKPHTES LELQVRGEGT GVLGSLSLPL SELLVADQLC LDRWFTLSSG
   901  QGQVLLRAQL GILVSQHSGV EAHSHSYSHS SSSLSEEPEL SGGPPHITSS APELRQRLTH
   961  VDSPLEAPAG PLGQVKLTLW YYSEERKLVS IVHGCRSLRQ NGRDPPDPYV SLLLLPDKNR
  1021  GTKRRTSQKK RTLSPEFNER FEWELPLDEA QRRKLDVSVK SNSSFMSRER ELLGKVQLDL
  1081  AETDLSQGVA RWYDLMDNKD KGSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESYT1 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: Cell surface
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 101 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 101 nTPM
breast: 75 nTPM
smooth muscle: 70 nTPM
blood vessel: 59 nTPM
endometrium: 54 nTPM
skeletal muscle: 51 nTPM

Single-cell type

epididymal efferent duct ciliated cells: 83 nCPM
hofbauer cells: 67 nCPM
retinal ganglion cells: 58 nCPM
mast cells: 58 nCPM
syncytiotrophoblasts: 55 nCPM
fallopian tube ciliated cells: 54 nCPM

Immune cell

basophil: 425 nTPM
eosinophil: 424 nTPM
total PBMC: 178 nTPM
MAIT T-cell: 158 nTPM
T-reg: 140 nTPM
memory CD4 T-cell: 130 nTPM

Brain region

pons: 70 nTPM
medulla oblongata: 61 nTPM
white matter: 45 nTPM
thalamus: 45 nTPM
hypothalamus: 43 nTPM
spinal cord: 42 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): 0.62
gnomAD pLI: 0
gnomAD missense Z: 0.85
DepMap mean gene effect: -0.18
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

InteractionsUniProt · HPA

Protein binding partners of ESYT1 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 ESYT1 as an antibody target. Whether an autoantibody or antibody against ESYT1 could matter depends on whether native ESYT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ESYT1 is annotated at the cell surface, where native ESYT1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ESYT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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