Seroatlas · Human Serome Atlas

UNC13D

Protein unc-13 homolog D

Also known as: Munc13-4, UN13D_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q70J99
Gene: UNC13D
Ensembl: ENSG00000092929
Chromosome: 17
Canonical length: 1090 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1090 residues, UniProt reviewed canonical sequence.

>Q70J99|UNC13D
     1  MATLLSHPQQ RPPFLRQAIK IRRRRVRDLQ DPPPQMAPEI QPPSHHFSPE QRALLYEDAL
    61  YTVLHRLGHP EPNHVTEASE LLRYLQEAFH VEPEEHQQTL QRVRELEKPI FCLKATVKQA
   121  KGILGKDVSG FSDPYCLLGI EQGVGVPGGS PGSRHRQKAV VRHTIPEEET HRTQVITQTL
   181  NPVWDETFIL EFEDITNASF HLDMWDLDTV ESVRQKLGEL TDLHGLRRIF KEARKDKGQD
   241  DFLGNVVLRL QDLRCREDQW YPLEPRTETY PDRGQCHLQF QLIHKRRATS ASRSQPSYTV
   301  HLHLLQQLVS HEVTQHEAGS TSWDGSLSPQ AATVLFLHAT QKDLSDFHQS MAQWLAYSRL
   361  YQSLEFPSSC LLHPITSIEY QWIQGRLKAE QQEELAASFS SLLTYGLSLI RRFRSVFPLS
   421  VSDSPARLQS LLRVLVQMCK MKAFGELCPN TAPLPQLVTE ALQTGTTEWF HLKQQHHQPM
   481  VQGIPEAGKA LLGLVQDVIG DLHQCQRTWD KIFHNTLKIH LFSMAFRELQ WLVAKRVQDH
   541  TTVVGDVVSP EMGESLFQLY ISLKELCQLR MSSSERDGVL ALDNFHRWFQ PAIPSWLQKT
   601  YNEALARVQR AVQMDELVPL GELTKHSTSA VDLSTCFAQI SHTARQLDWP DPEEAFMITV
   661  KFVEDTCRLA LVYCSLIKAR ARELSSGQKD QGQAANMLCV VVNDMEQLRL VIGKLPAQLA
   721  WEALEQRVGA VLEQGQLQNT LHAQLQSALA GLGHEIRTGV RTLAEQLEVG IAKHIQKLVG
   781  VRESVLPEDA ILPLMKFLEV ELCYMNTNLV QENFSSLLTL LWTHTLTVLV EAAASQRSSS
   841  LASNRLKIAL QNLEICFHAE GCGLPPKALH TATFQALQRD LELQAASSRE LIRKYFCSRI
   901  QQQAETTSEE LGAVTVKASY RASEQKLRVE LLSASSLLPL DSNGSSDPFV QLTLEPRHEF
   961  PELAARETQK HKKDLHPLFD ETFEFLVPAE PCRKAGACLL LTVLDYDTLG ADDLEGEAFL
  1021  PLREVPGLSG SEEPGEVPQT RLPLTYPAPN GDPILQLLEG RKGDREAQVF VRLRRHRAKQ
  1081  ASQHALRPAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UNC13D 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): 0.29
Highest tissue expression: 67 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 67 nTPM
spleen: 66 nTPM
lung: 38 nTPM
lymph node: 28 nTPM
appendix: 25 nTPM
esophagus: 23 nTPM

Single-cell type

neutrophils: 231 nCPM
alveolar cells type 1: 214 nCPM
platelets: 156 nCPM
hofbauer cells: 110 nCPM
neutrophil progenitors: 101 nCPM
esophageal apical cells: 96 nCPM

Immune cell

basophil: 80 nTPM
eosinophil: 47 nTPM
neutrophil: 46 nTPM
non-classical monocyte: 28 nTPM
gdT-cell: 22 nTPM
MAIT T-cell: 22 nTPM

Brain region

thalamus: 18 nTPM
white matter: 17 nTPM
medulla oblongata: 16 nTPM
cerebral cortex: 14 nTPM
pons: 14 nTPM
basal ganglia: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UNC13D.

Disease | AllUniProt

Conditions UNC13D is implicated in, by any mechanism.

Hemophagocytic lymphohistiocytosis, familial, 3 (FHL3) MIM:608898

Disease | GeneticClinVar

192 pathogenic / likely-pathogenic of 1,783 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis
Autoinflammatory syndrome
UNC13D-related disorder
Colon adenocarcinoma

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): 0.77
gnomAD pLI: 0
gnomAD missense Z: -0.24
DepMap mean gene effect: -0.13
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 UNC13D 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 UNC13D as an antibody target. Whether an autoantibody or antibody against UNC13D could matter depends on whether native UNC13D is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UNC13D 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 UNC13D as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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