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  2. NCKAP1 - NCK associated protein 1 Gene

NCKAP1 - NCK associated protein 1 Gene

Homo sapiens

Also known as HEM2; NAP1; NAP125; p125Nap1

Gene ID: 10787 | Gene type: protein coding

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

NCKAP1 Protein Structure

Nckap1

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

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  • 1128 a.a.
Protein Preferred Names Protein Names

nck-associated protein 1

membrane-associated protein HEM-2

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