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Protein

Adaptin ear-binding coat-associated protein 1

Gene

NECAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in endocytosis.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Endocytosis, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.

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

HGNCiHGNC:24539. NECAP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

MalaCardsiNECAP1.
MIMi615833. phenotype.
Orphaneti1934. Early infantile epileptic encephalopathy.
PharmGKBiPA142671267.

Polymorphism and mutation databases

BioMutaiNECAP1.
DMDMi62287155.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 275275Adaptin ear-binding coat-associated protein 1PRO_0000213067Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei211 – 2111PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NC96.
MaxQBiQ8NC96.
PaxDbiQ8NC96.
PeptideAtlasiQ8NC96.
PRIDEiQ8NC96.

PTM databases

iPTMnetiQ8NC96.
PhosphoSiteiQ8NC96.

Expressioni

Gene expression databases

BgeeiENSG00000089818.
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 interactions.
IntActiQ8NC96. 4 interactions.
STRINGi9606.ENSP00000341737.

Structurei

3D structure databases

ProteinModelPortaliQ8NC96.
SMRiQ8NC96. Positions 1-133.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi252 – 2554WXXF motif 1
Motifi272 – 2754WXXF motif 2

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.
OMAiESQEMDN.
OrthoDBiEOG091G0PZV.
PhylomeDBiQ8NC96.
TreeFamiTF314482.

Family and domain databases

CDDicd13228. PHear_NECAP. 1 hit.
Gene3Di2.30.29.30. 1 hit.
InterProiIPR012466. NECAP_PHear.
IPR011993. PH_dom-like.
[Graphical view]
PfamiPF07933. DUF1681. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti77 – 771Y → F in CAB43373 (PubMed:17974005).Curated
Sequence conflicti232 – 2321D → G in BAC11250 (PubMed:14702039).Curated
Sequence conflicti239 – 2391T → A in BAC11264 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti224 – 2241D → N.
Corresponds to variant rs2231752 [ dbSNP | Ensembl ].
VAR_034153

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei102 – 1021R → G in isoform 2. 1 PublicationVSP_013232
Alternative sequencei103 – 275173Missing in isoform 2. 1 PublicationVSP_013233Add
BLAST

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]
GeneIDi25977.
KEGGihsa:25977.
UCSCiuc001qtx.3. human. [Q8NC96-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Positions 1-133.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117461. 18 interactions.
IntActiQ8NC96. 4 interactions.
STRINGi9606.ENSP00000341737.

PTM databases

iPTMnetiQ8NC96.
PhosphoSiteiQ8NC96.

Polymorphism and mutation databases

BioMutaiNECAP1.
DMDMi62287155.

Proteomic databases

EPDiQ8NC96.
MaxQBiQ8NC96.
PaxDbiQ8NC96.
PeptideAtlasiQ8NC96.
PRIDEiQ8NC96.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

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

Phylogenomic databases

eggNOGiKOG2500. Eukaryota.
ENOG41113PS. LUCA.
GeneTreeiENSGT00390000009359.
HOVERGENiHBG060621.
InParanoidiQ8NC96.
KOiK20069.
OMAiESQEMDN.
OrthoDBiEOG091G0PZV.
PhylomeDBiQ8NC96.
TreeFamiTF314482.

Enzyme and pathway databases

ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

ChiTaRSiNECAP1. human.
GenomeRNAii25977.
PROiQ8NC96.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000089818.
CleanExiHS_NECAP1.
ExpressionAtlasiQ8NC96. baseline and differential.
GenevisibleiQ8NC96. HS.

Family and domain databases

CDDicd13228. PHear_NECAP. 1 hit.
Gene3Di2.30.29.30. 1 hit.
InterProiIPR012466. NECAP_PHear.
IPR011993. PH_dom-like.
[Graphical view]
PfamiPF07933. DUF1681. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 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 historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 29, 2005
Last modified: September 7, 2016
This is version 105 of the entry and version 2 of the sequence. [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 chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.