Gene Gene information from NCBI Gene database.
Entrez ID 10787
Gene name NCK associated protein 1
Gene symbol NCKAP1
Synonyms (NCBI Gene)
HEM2NAP1NAP125p125Nap1
Chromosome 2
Chromosome location 2q32.1
miRNA miRNA information provided by mirtarbase database.
590
miRTarBase ID miRNA Experiments Reference
MIRT020619 hsa-miR-155-5p Proteomics 18668040
MIRT021593 hsa-miR-142-3p Microarray 17612493
MIRT028458 hsa-miR-30a-5p Proteomics 18668040
MIRT045845 hsa-miR-132-3p CLASH 23622248
MIRT042408 hsa-miR-18b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA
GO:0001701 Process In utero embryonic development IEA
GO:0001726 Component Ruffle IEA
GO:0001726 Component Ruffle ISS
GO:0001756 Process Somitogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604891 7666 ENSG00000061676
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2A7
Protein name Nck-associated protein 1 (NAP 1) (Membrane-associated protein HEM-2) (p125Nap1)
Protein function Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 compl
PDB 3P8C , 4N78 , 7USC , 7USD , 7USE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09735 Nckap1 9 1122 Membrane-associated apoptosis protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined except peripheral blood leukocytes, with highest expression in brain, heart, and skeletal muscle. Expressed in cells of various brain regions including Purkinje cells and dentate nucleus of the cerebel
Sequence
MSRSVLQPSQQKLAEKLTILNDRGVGMLTRLYNIKKACGDPKAKPSYLIDKNLESAVKFI
VRKFPAVETRNNNQQLAQLQKEKSEILKNLALYYFTFVDVMEFKDHVCELLNTIDVCQVF
FDITVNFDLTKNYLDLIITYTTLMILLSRIEERKAIIGLYNYAHEMTHGASDREYPRLGQ
MIVDYENPLKKMMEEFVPHSKSLSDALISLQMVYPRRNLSADQWRNAQLLSLISAPSTML
NPAQSDTMPCEYLSLDAMEKWIIFGFILCHGILNTDATALNLWKLALQSSSCLSLFRDEV
FHIHKAAEDLFVNIRGYNKRINDIRECKEAAVSHAGSMHRERRKFLRSALKELATVLSDQ
PGLLGPKALFVFMALSFARDEIIWLLRHADNMPKKSADDFIDKHIAELIFYMEELRAHVR
KYGPVMQRYYVQYLSGFDAVVLNELVQNLSVCPEDESIIMSSFVNTMTSLSVKQVEDGEV
FDFRGMRLDWFRLQAYTSVSKASLGLADHRELGKMMNTIIFHTKMVDSLVEMLVETSDLS
IFCFYSRAFEKMFQQCLELPSQSRYSIAFPLLCTHFMSCTHELCPEERHHIGDRSLSLCN
MFLDEMAKQARNLITDICTEQCTLSDQLLPKHCAKTISQAVNKKSKKQTGKKGEPEREKP
GVESMRKNRLVVTNLDKLHTALSELCFSINYVPNMVVWEHTFTPREYLTSHLEIRFTKSI
VGMTMYNQATQEIAKPSELLTSVRAYMTVLQSIENYVQIDITRVFNNVLLQQTQHLDSHG
EPTITSLYTNWYLETLLRQVSNGHIAYFPAMKAFVNLPTENELTFNAEEYSDISEMRSLS
ELLGPYGMKFLSESLMWHISSQVAELKKLVVENVDVLTQMRTSFDKPDQMAALFKRLSSV
DSVLKRMTIIGVILSFRSLAQEALRDVLSYHIPFLVSSIEDFKDHIPRETDMKVAMNVYE
LSSAAGLPCEIDPALVVALSSQKSENISPEEEYKIACLLMVFVAVSLPTLASNVMSQYSP
AIEGHCNNIHCLAKAINQIAAALFTIHKGSIEDRLKEFLALASSSLLKIGQETDKTTTRN
RESVYLLLDMIVQESPFLTMDLLESCFPYVLLRNAYHAVYKQ
SVTSSA
Sequence length 1128
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Regulation of actin cytoskeleton
Pathogenic Escherichia coli infection
Salmonella infection
  Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autistic behavior Pathogenic rs2468604532, rs1696658542 RCV003412546
RCV001034612
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic rs2105823081, rs2468666450 RCV001527639
RCV001255388
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 72 with autoinflammation Likely pathogenic rs2468533857 RCV003988683
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs2468723111 RCV002287607
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder Uncertain significance ClinVar
ClinGen, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
FOCAL ONSET SOMATOSENSORY EPILEPTIC SEIZURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 37154887 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 37154887 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 33560516 Stimulate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 27632392 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 26867158
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26867158, 39408874 Associate
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 18216211, 19081526, 19755166, 21487764, 24213847, 25782900, 28125650, 28501926, 28645479, 29174729, 29846557, 30052178, 30170546
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 28940097 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma Liver carcinoma BEFREE 27704267, 31068575
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms BEFREE 27704267
★☆☆☆☆
Found in Text Mining only