Seroatlas · Human Serome Atlas

NECAP1

Adaptin ear-binding coat-associated protein 1

Also known as: DKFZP566B183, NECP1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8NC96
Gene: NECAP1
Ensembl: ENSG00000089818
Chromosome: 12
Canonical length: 275 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

275 residues, UniProt reviewed canonical sequence.

>Q8NC96|NECAP1
     1  MATELEYESV LCVKPDVSVY RIPPRASNRG YRASDWKLDQ PDWTGRLRIT SKGKTAYIKL
    61  EDKVSGELFA QAPVEQYPGI AVETVTDSSR YFVIRIQDGT GRSAFIGIGF TDRGDAFDFN
   121  VSLQDHFKWV KQESEISKES QEMDARPKLD LGFKEGQTIK LCIGNITNKK GGASKPRTAR
   181  GGGLSLLPPP PGGKVTIPPP SSSVAISNHV TPPPIPKSNH GGSDADILLD LDSPAPVTTP
   241  APTPVSVSND LWGDFSTASS SVPNQAPQPS NWVQF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NECAP1 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): 0.53
Highest tissue expression: 65 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 65 nTPM
cerebellum: 52 nTPM
hypothalamus: 43 nTPM
retina: 39 nTPM
basal ganglia: 35 nTPM
amygdala: 31 nTPM

Single-cell type

cardiomyocytes: 19 nCPM
podocytes: 16 nCPM
distal convoluted tubule cells: 15 nCPM
renal collecting duct intercalated cells: 13 nCPM
renal connecting tubule cells: 13 nCPM
loop of henle epithelial cells: 12 nCPM

Immune cell

eosinophil: 37 nTPM
basophil: 29 nTPM
neutrophil: 29 nTPM
non-classical monocyte: 23 nTPM
T-reg: 17 nTPM
classical monocyte: 17 nTPM

Brain region

hypothalamus: 115 nTPM
cerebral cortex: 104 nTPM
basal ganglia: 71 nTPM
cerebellum: 61 nTPM
hippocampal formation: 59 nTPM
pons: 57 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NECAP1.

Disease | AllUniProt

Conditions NECAP1 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 21 (DEE21) MIM:615833

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 221 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 21

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): 0.65
gnomAD pLI: 0.13
gnomAD missense Z: 1.4
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NECAP1 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 NECAP1 as an antibody target. Whether an autoantibody or antibody against NECAP1 could matter depends on whether native NECAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NECAP1 is annotated at the cell surface, where native NECAP1 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 NECAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...