1. Gene
  2. NCKAP1L - NCK associated protein 1 like Gene

NCKAP1L - NCK associated protein 1 like Gene

Homo sapiens

Also known as HEM1; IMD72

Gene ID: 3071 | Gene type: protein coding

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

NCKAP1L Protein Structure

Nckap1

Nckap1: Membrane-associated apoptosis protein (6 - 1123)

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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

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