Seroatlas · Human Serome Atlas

UNC13A

Protein unc-13 homolog A

Also known as: KIAA1032, Munc13-1, UN13A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UPW8
Gene: UNC13A
Ensembl: ENSG00000130477
Chromosome: 19
Canonical length: 1703 aa
Protein class: Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

1703 residues, UniProt reviewed canonical sequence.

>Q9UPW8|UNC13A
     1  MSLLCVGVKK AKFDGAQEKF NTYVTLKVQN VKSTTIAVRG SQPSWEQDFM FEINRLDLGL
    61  TVEVWNKGLI WDTMVGTVWI PLRTIRQSNE EGPGEWLTLD SQVIMADSEI CGTKDPTFHR
   121  ILLDTRFELP LDIPEEEARY WAKKLEQLNA MRDQDEYSFQ DEQDKPLPVP SNQCCNWNYF
   181  GWGEQHNDDP DSAVDDRDSD YRSETSNSIP PPYYTTSQPN ASVHQYSVRP PPLGSRESYS
   241  DSMHSYEEFS EPQALSPTGS SRYASSGELS QGSSQLSEDF DPDEHSLQGS DMEDERDRDS
   301  YHSCHSSVSY HKDSPRWDQD EEELEEDLED FLEEEELPED EEELEEEEEE VPDDLGSYAQ
   361  REDVAVAEPK DFKRISLPPA APGKEDKAPV APTEAPDMAK VAPKPATPDK VPAAEQIPEA
   421  EPPKDEESFR PREDEEGQEG QDSMSRAKAN WLRAFNKVRM QLQEARGEGE MSKSLWFKGG
   481  PGGGLIIIDS MPDIRKRKPI PLVSDLAMSL VQSRKAGITS ALASSTLNNE ELKNHVYKKT
   541  LQALIYPISC TTPHNFEVWT ATTPTYCYEC EGLLWGIARQ GMRCTECGVK CHEKCQDLLN
   601  ADCLQRAAEK SSKHGAEDRT QNIIMVLKDR MKIRERNKPE IFELIQEIFA VTKTAHTQQM
   661  KAVKQSVLDG TSKWSAKISI TVVCAQGLQA KDKTGSSDPY VTVQVGKTKK RTKTIYGNLN
   721  PVWEENFHFE CHNSSDRIKV RVWDEDDDIK SRVKQRFKRE SDDFLGQTII EVRTLSGEMD
   781  VWYNLDKRTD KSAVSGAIRL HISVEIKGEE KVAPYHVQYT CLHENLFHFV TDVQNNGVVK
   841  IPDAKGDDAW KVYYDETAQE IVDEFAMRYG VESIYQAMTH FACLSSKYMC PGVPAVMSTL
   901  LANINAYYAH TTASTNVSAS DRFAASNFGK ERFVKLLDQL HNSLRIDLSM YRNNFPASSP
   961  ERLQDLKSTV DLLTSITFFR MKVQELQSPP RASQVVKDCV KACLNSTYEY IFNNCHELYS
  1021  REYQTDPAKK GEVLPEEQGP SIKNLDFWSK LITLIVSIIE EDKNSYTPCL NQFPQELNVG
  1081  KISAEVMWNL FAQDMKYAME EHDKHRLCKS ADYMNLHFKV KWLYNEYVTE LPAFKDRVPE
  1141  YPAWFEPFVI QWLDENEEVS RDFLHGALER DKKDGFQQTS EHALFSCSVV DVFSQLNQSF
  1201  EIIKKLECPD PQIVGHYMRR FAKTISNVLL QYADIISKDF ASYCSKEKEK VPCILMNNTQ
  1261  QLRVQLEKMF EAMGGKELDA EASDILKELQ VKLNNVLDEL SRVFATSFQP HIEECVKQMG
  1321  DILSQVKGTG NVPASACSSV AQDADNVLQP IMDLLDSNLT LFAKICEKTV LKRVLKELWK
  1381  LVMNTMEKTI VLPPLTDQTM IGNLLRKHGK GLEKGRVKLP SHSDGTQMIF NAAKELGQLS
  1441  KLKDHMVREE AKSLTPKQCA VVELALDTIK QYFHAGGVGL KKTFLEKSPD LQSLRYALSL
  1501  YTQATDLLIK TFVQTQSAQG LGVEDPVGEV SVHVELFTHP GTGEHKVTVK VVAANDLKWQ
  1561  TSGIFRPFIE VNIIGPQLSD KKRKFATKSK NNSWAPKYNE SFQFTLSADA GPECYELQVC
  1621  VKDYCFARED RTVGLAVLQL RELAQRGSAA CWLPLGRRIH MDDTGLTVLR ILSQRSNDEV
  1681  AKEFVKLKSD TRSAEEGGAA PAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UNC13A 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: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 40 nTPM
cerebral cortex: 39 nTPM
pituitary gland: 30 nTPM
basal ganglia: 22 nTPM
hippocampal formation: 21 nTPM
amygdala: 19 nTPM

Single-cell type

retinal horizontal cells: 297 nCPM
gonadotrophs: 222 nCPM
lactotrophs: 202 nCPM
retinal ganglion cells: 193 nCPM
retinal amacrine cells: 148 nCPM
somatotrophs: 143 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 124 nTPM
hippocampal formation: 107 nTPM
basal ganglia: 94 nTPM
white matter: 91 nTPM
amygdala: 78 nTPM
hypothalamus: 57 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UNC13A.

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 421 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
Tremor
Developmental regression
Autism

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): 0.16
gnomAD pLI: 1
gnomAD missense Z: 5.63
DepMap mean gene effect: -0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 UNC13A 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 UNC13A as an antibody target. Whether an autoantibody or antibody against UNC13A could matter depends on whether native UNC13A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UNC13A is annotated at the cell surface, where native UNC13A 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 UNC13A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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