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NCKAP1L - NCK associated protein 1 like Gene

Also Known as HEM1; IMD72

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3071

About NCKAP1L

Cytogenetic location: 12q13.13-q13.2 Genomic coordinates (GRCh38): 12:54,497,752-54,548,243 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in lymph node (RPKM 38.4), appendix (RPKM 34.7) and 18 other tissues.

Summary

This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and Plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]

NCKAP1L Products (2)

mRNA	Protein	Name
NM_001184976.2	NP_001171905.1	nck-associated protein 1-like isoform 2
NM_005337.5	NP_005328.2	nck-associated protein 1-like isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IMP IMP: Inferred from mutant phenotype	16417406	GOA
enables TORC2 complex binding	IDA IDA: Inferred from direct assay	32647003	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16417406	GOA
enables protein kinase activator activity	IMP IMP: Inferred from mutant phenotype	16417406	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	16417406	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in B cell receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	17875758	GOA
involved in actin polymerization-dependent cell motility	IMP IMP: Inferred from mutant phenotype	16417406	GOA
involved in chemotaxis	IDA IDA: Inferred from direct assay	16417406	GOA
involved in cortical actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	16417406	GOA
involved in erythrocyte development	IEP IEP: Inferred from expression pattern	7643388	GOA
involved in maintenance of cell polarity	IMP IMP: Inferred from mutant phenotype	16417406	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17875758	GOA
involved in negative regulation of cytotoxic T cell degranulation	IMP IMP: Inferred from mutant phenotype	32647003	GOA
involved in neutrophil chemotaxis	IDA IDA: Inferred from direct assay	16417406	GOA
involved in positive regulation of B cell proliferation	IMP IMP: Inferred from mutant phenotype	17875758	GOA
involved in positive regulation of T cell proliferation	IMP IMP: Inferred from mutant phenotype	32647003	GOA
involved in positive regulation of TORC2 signaling	IMP IMP: Inferred from mutant phenotype	32647003	GOA
involved in positive regulation of actin filament polymerization	IMP IMP: Inferred from mutant phenotype	16417406	GOA
involved in positive regulation of leukocyte migration	IMP IMP: Inferred from mutant phenotype	32647003	GOA
involved in positive regulation of neutrophil migration	IMP IMP: Inferred from mutant phenotype	32647003	GOA
involved in positive regulation of phosphorylation	IMP IMP: Inferred from mutant phenotype	16417406	GOA
involved in response to xenobiotic stimulus	IMP IMP: Inferred from mutant phenotype	17875758	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SCAR complex	IDA IDA: Inferred from direct assay	16417406	GOA
located in cytosol	IDA IDA: Inferred from direct assay	16417406	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

NCKAP1L Protein Structure

Nckap1

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1127 a.a.

Protein Preferred Names	Protein Names
nck-associated protein 1-like	hematopoietic protein 1

Related Diseases

Diseases	Alias
Immunodeficiency 72 With Autoinflammation	IMD72 Immunodeficiency 72
Bronchus Cancer	Malignant Neoplasm Of Bronchus And Lung Bronchus Carcinoma Bronchogenic Carcinoma Malignant Neoplasm Of Bronchus Or Lung Bc - Bronchogenic Carcinoma Carcinoma, Bronchogenic Bronchial Neoplasms
Bronchus Adenoma	Bronchial Adenoma Adenoma Of The Bronchus
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease IMD71 Plteid Immunodeficiency 71
Brachydactyly, Type C	Brachydactyly Type C BDC Brachydactyly Haws Type Brachydactyly, Haws Type Brachydactyly C
Spastic Hemiplegia	Spastic Hemiplegic Cerebral Palsy Hemiplegic Cerebral Palsy Congenital Hemiplegia Hemiplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Hemiplegic Spastic Hemiplegia Cerebral Palsy Hemiplegia, Spastic

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09083	NCKAP1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NCKAP1L	VGNC	VGNC:75063
Felis catus	NCKAP1L	VGNC	VGNC:67553
Canis familiaris	NCKAP1L	VGNC	VGNC:49906
Rattus norvegicus	NCKAP1L	RGD	RGD:1312032
Mus musculus	NCKAP1L	MGD	MGI:1926063
Bos taurus	NCKAP1L	VGNC	VGNC:31916