NCKAP1 - NCK associated protein 1 Gene

Also Known as HEM2; NAP1; NAP125; p125Nap1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10787

About NCKAP1

Cytogenetic location: 2q32.1 Genomic coordinates (GRCh38): 2:182,909,115-183,038,457 (from NCBI)

This gene has 10 transcripts (splice variants), 226 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 62.7), brain (RPKM 61.6) and 24 other tissues.

Summary

Contributes to small GTPase binding activity. Involved in Rac protein signal transduction; positive regulation of Arp2/3 complex-mediated actin nucleation; and positive regulation of lamellipodium assembly. Located in extracellular exosome and focal adhesion. Part of SCAR complex. [provided by Alliance of Genome Resources, Apr 2022]

NCKAP1 Products (2)

mRNA Protein Name
NM_013436.5 NP_038464.1 nck-associated protein 1 isoform 1
NM_205842.3 NP_995314.1 nck-associated protein 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11418237 GOA
contributes to small GTPase binding IDA
IDA: Inferred from direct assay
21107423 GOA
Biological Process GO Annotation Evidence References Source
involved in Rac protein signal transduction IDA
IDA: Inferred from direct assay
21107423 GOA
involved in positive regulation of Arp2/3 complex-mediated actin nucleation IDA
IDA: Inferred from direct assay
21107423 GOA
involved in positive regulation of lamellipodium assembly IDA
IDA: Inferred from direct assay
21107423 GOA
involved in positive regulation of lamellipodium assembly IMP
IMP: Inferred from mutant phenotype
18560548 GOA
Cellular Component GO Annotation Evidence References Source
part of SCAR complex IDA
IDA: Inferred from direct assay
21107423 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NCKAP1 Protein Structure

Nckap1

Nckap1: Membrane-associated apoptosis protein (8 - 1123)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1128 a.a.
Protein Preferred Names Protein Names

nck-associated protein 1

  • membrane-associated protein HEM-2

NCKAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576 33961781
Intra
NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576
Y2H
15296760
Intra
NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576 35271311
Intra
NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576
Y2H
15294869
Intra
NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0 15048123
Intra
NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0 33961781
Intra
NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0 11418237
Intra
NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Coffin-Siris Syndrome 1
  • Coffin-Siris Syndrome

  • Fifth Digit Syndrome

  • Css

  • CSS1

  • Mrd12

  • Mental Retardation, Autosomal Dominant 12

  • Hhid

  • Dwarfism-Onychodysplasia

  • Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

  • Autosomal Dominant Mental Retardation 12

  • Short Stature-Onychodysplasia.

  • Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

  • Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

  • Short Stature-Onychodysplasia

  • Coffin-Siris Syndrome, Type 1

  • Mental Retardation, Autosomal Dominant, Type 12

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris NCKAP1 VGNC VGNC:43653
Rattus norvegicus NCKAP1 RGD RGD:61939
Bos taurus NCKAP1 VGNC VGNC:31915
Macaca mulatta NCKAP1 VGNC VGNC:75143
Mus musculus NCKAP1 MGD MGI:1355333
Felis catus NCKAP1 VGNC VGNC:68429
Others NCKAP1 NCBI