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Protein

Adaptin ear-binding coat-associated protein 1

Gene

NECAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in endocytosis.By similarity

GO - Biological processi

Keywordsi

Biological processEndocytosis, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
Adaptin ear-binding coat-associated protein 1
Alternative name(s):
NECAP endocytosis-associated protein 1
Short name:
NECAP-1
Gene namesi
Name:NECAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000089818.16
HGNCiHGNC:24539 NECAP1
MIMi611623 gene
neXtProtiNX_Q8NC96

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 21 (EIEE21)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia.
See also OMIM:615833

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNETi25977
MalaCardsiNECAP1
MIMi615833 phenotype
OpenTargetsiENSG00000089818
Orphaneti1934 Early infantile epileptic encephalopathy
PharmGKBiPA142671267

Polymorphism and mutation databases

BioMutaiNECAP1
DMDMi62287155

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002130671 – 275Adaptin ear-binding coat-associated protein 1Add BLAST275

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei180Omega-N-methylarginineCombined sources1
Modified residuei211PhosphothreonineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ8NC96
MaxQBiQ8NC96
PaxDbiQ8NC96
PeptideAtlasiQ8NC96
PRIDEiQ8NC96
ProteomicsDBi72863
72864 [Q8NC96-2]

PTM databases

iPTMnetiQ8NC96
PhosphoSitePlusiQ8NC96

Expressioni

Gene expression databases

BgeeiENSG00000089818 Expressed in 221 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_NECAP1
ExpressionAtlasiQ8NC96 baseline and differential
GenevisibleiQ8NC96 HS

Organism-specific databases

HPAiHPA053980
HPA063300

Interactioni

Subunit structurei

Interacts with AP1G1 and AP2A1 components of the adapter protein complexes AP-1 and AP-2. Interacts with the GAE domain proteins GGA1, GGA2 and GGA3 (By similarity).By similarity

Protein-protein interaction databases

BioGridi117461, 18 interactors
IntActiQ8NC96, 8 interactors
STRINGi9606.ENSP00000341737

Structurei

3D structure databases

ProteinModelPortaliQ8NC96
SMRiQ8NC96
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi252 – 255WXXF motif 14
Motifi272 – 275WXXF motif 24

Domaini

The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself. The WXXF motif 1, which is preceded by an acidic residue and has a glycine in second position mediates specific interaction with AP-1. The WXXF motif 2, which is followed by the C-terminal carboxyl group negative charge, allows specific interaction with AP-2 (By similarity).By similarity

Sequence similaritiesi

Belongs to the NECAP family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2500 Eukaryota
ENOG41113PS LUCA
GeneTreeiENSGT00390000009359
HOVERGENiHBG060621
InParanoidiQ8NC96
KOiK20069
OMAiERTDSFD
OrthoDBiEOG091G0PZV
PhylomeDBiQ8NC96
TreeFamiTF314482

Family and domain databases

CDDicd13228 PHear_NECAP, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR012466 NECAP_PHear
IPR011993 PH-like_dom_sf
PfamiView protein in Pfam
PF07933 DUF1681, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NC96-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATELEYESV LCVKPDVSVY RIPPRASNRG YRASDWKLDQ PDWTGRLRIT
60 70 80 90 100
SKGKTAYIKL EDKVSGELFA QAPVEQYPGI AVETVTDSSR YFVIRIQDGT
110 120 130 140 150
GRSAFIGIGF TDRGDAFDFN VSLQDHFKWV KQESEISKES QEMDARPKLD
160 170 180 190 200
LGFKEGQTIK LCIGNITNKK GGASKPRTAR GGGLSLLPPP PGGKVTIPPP
210 220 230 240 250
SSSVAISNHV TPPPIPKSNH GGSDADILLD LDSPAPVTTP APTPVSVSND
260 270
LWGDFSTASS SVPNQAPQPS NWVQF
Length:275
Mass (Da):29,737
Last modified:March 29, 2005 - v2
Checksum:i22FC4CCEC7E3B713
GO
Isoform 2 (identifier: Q8NC96-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     102-102: R → G
     103-275: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:102
Mass (Da):11,444
Checksum:iA88F613B5A5DEEF3
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GYH1F5GYH1_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
240Annotation score:
A0A1W2PPF5A0A1W2PPF5_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
110Annotation score:
A0A1W2PR27A0A1W2PR27_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
110Annotation score:
A0A1W2PR09A0A1W2PR09_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
271Annotation score:
A0A1W2PRM0A0A1W2PRM0_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
250Annotation score:
A0A1W2PRL5A0A1W2PRL5_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
254Annotation score:
A0A1W2PRQ7A0A1W2PRQ7_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
121Annotation score:
F5H2U7F5H2U7_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
116Annotation score:
A0A1W2PRW5A0A1W2PRW5_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
93Annotation score:
A0A1W2PNT6A0A1W2PNT6_HUMAN
Adaptin ear-binding coat-associated...
NECAP1
179Annotation score:
There is more potential isoformShow all

Sequence cautioni

The sequence AAH02888 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti77Y → F in CAB43373 (PubMed:17974005).Curated1
Sequence conflicti232D → G in BAC11250 (PubMed:14702039).Curated1
Sequence conflicti239T → A in BAC11264 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034153224D → N. Corresponds to variant dbSNP:rs2231752EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013232102R → G in isoform 2. 1 Publication1
Alternative sequenceiVSP_013233103 – 275Missing in isoform 2. 1 PublicationAdd BLAST173

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074858 mRNA Translation: BAC11250.1
AK074880 mRNA Translation: BAC11264.1
AK074923 mRNA Translation: BAC11296.1
AK075013 mRNA Translation: BAC11352.1
AL050272 mRNA Translation: CAB43373.2
BC002888 mRNA Translation: AAH02888.1 Different initiation.
BC067367 mRNA Translation: AAH67367.1
BC084551 mRNA Translation: AAH84551.1
BC110876 mRNA Translation: AAI10877.1
CCDSiCCDS8589.1 [Q8NC96-1]
PIRiT08719
RefSeqiNP_056324.2, NM_015509.3 [Q8NC96-1]
UniGeneiHs.555927

Genome annotation databases

EnsembliENST00000339754; ENSP00000341737; ENSG00000089818 [Q8NC96-1]
ENST00000450991; ENSP00000401963; ENSG00000089818 [Q8NC96-2]
ENST00000639955; ENSP00000491067; ENSG00000089818 [Q8NC96-1]
GeneIDi25977
KEGGihsa:25977
UCSCiuc001qtx.3 human [Q8NC96-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074858 mRNA Translation: BAC11250.1
AK074880 mRNA Translation: BAC11264.1
AK074923 mRNA Translation: BAC11296.1
AK075013 mRNA Translation: BAC11352.1
AL050272 mRNA Translation: CAB43373.2
BC002888 mRNA Translation: AAH02888.1 Different initiation.
BC067367 mRNA Translation: AAH67367.1
BC084551 mRNA Translation: AAH84551.1
BC110876 mRNA Translation: AAI10877.1
CCDSiCCDS8589.1 [Q8NC96-1]
PIRiT08719
RefSeqiNP_056324.2, NM_015509.3 [Q8NC96-1]
UniGeneiHs.555927

3D structure databases

ProteinModelPortaliQ8NC96
SMRiQ8NC96
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117461, 18 interactors
IntActiQ8NC96, 8 interactors
STRINGi9606.ENSP00000341737

PTM databases

iPTMnetiQ8NC96
PhosphoSitePlusiQ8NC96

Polymorphism and mutation databases

BioMutaiNECAP1
DMDMi62287155

Proteomic databases

EPDiQ8NC96
MaxQBiQ8NC96
PaxDbiQ8NC96
PeptideAtlasiQ8NC96
PRIDEiQ8NC96
ProteomicsDBi72863
72864 [Q8NC96-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339754; ENSP00000341737; ENSG00000089818 [Q8NC96-1]
ENST00000450991; ENSP00000401963; ENSG00000089818 [Q8NC96-2]
ENST00000639955; ENSP00000491067; ENSG00000089818 [Q8NC96-1]
GeneIDi25977
KEGGihsa:25977
UCSCiuc001qtx.3 human [Q8NC96-1]

Organism-specific databases

CTDi25977
DisGeNETi25977
EuPathDBiHostDB:ENSG00000089818.16
GeneCardsiNECAP1
HGNCiHGNC:24539 NECAP1
HPAiHPA053980
HPA063300
MalaCardsiNECAP1
MIMi611623 gene
615833 phenotype
neXtProtiNX_Q8NC96
OpenTargetsiENSG00000089818
Orphaneti1934 Early infantile epileptic encephalopathy
PharmGKBiPA142671267
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2500 Eukaryota
ENOG41113PS LUCA
GeneTreeiENSGT00390000009359
HOVERGENiHBG060621
InParanoidiQ8NC96
KOiK20069
OMAiERTDSFD
OrthoDBiEOG091G0PZV
PhylomeDBiQ8NC96
TreeFamiTF314482

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Miscellaneous databases

ChiTaRSiNECAP1 human
GenomeRNAii25977
PROiPR:Q8NC96
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000089818 Expressed in 221 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_NECAP1
ExpressionAtlasiQ8NC96 baseline and differential
GenevisibleiQ8NC96 HS

Family and domain databases

CDDicd13228 PHear_NECAP, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR012466 NECAP_PHear
IPR011993 PH-like_dom_sf
PfamiView protein in Pfam
PF07933 DUF1681, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNECP1_HUMAN
AccessioniPrimary (citable) accession number: Q8NC96
Secondary accession number(s): Q2NL73
, Q5XG95, Q6NWY6, Q8N153, Q8NCB0, Q9BU52, Q9Y407
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 29, 2005
Last modified: September 12, 2018
This is version 119 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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