1. Gene
  2. NAE1 - NEDD8 activating enzyme E1 subunit 1 Gene

NAE1 - NEDD8 activating enzyme E1 subunit 1 Gene

Homo sapiens

Also known as HPP1; ula-1; APPBP1; A-116A10.1

Gene ID: 8883 | Gene type: protein coding

About NAE1

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:66,802,878-66,830,976 (from NCBI)

This gene has 22 transcripts (splice variants), 215 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 28.1), thyroid (RPKM 17.4) and 25 other tissues.

Summary

The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NAE1 Products(4)

mRNA Protein Name
NM_001018159.2 NP_001018169.1 NEDD8-activating enzyme E1 regulatory subunit isoform b
NM_001018160.2 NP_001018170.1 NEDD8-activating enzyme E1 regulatory subunit isoform c
NM_001286500.2 NP_001273429.1 NEDD8-activating enzyme E1 regulatory subunit isoform d
NM_003905.4 NP_003896.1 NEDD8-activating enzyme E1 regulatory subunit isoform a

NAE1 Protein Structure

ThiF

ThiF: ThiF family (30 - 153)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 534 a.a.
Protein Preferred Names Protein Names

NEDD8-activating enzyme E1 regulatory subunit

APP-BP1

Related Diseases

Diseases Alias
Exostoses, Multiple, Type I

Exostoses, Multiple, Type 1

EXT1

Multiple Cartilaginous Exostoses

Diaphyseal Aclasis

Multiple Osteochondromas

Osteochondromatosis

Hereditary Multiple Exostoses

Bessel-Hagen Disease

Exostoses, Multiple

Ext

Hereditary Multiple Osteochondromas

Hmo

Hereditary Multiple Exostosis

Multiple Exostoses

Hereditary Multiple Exostoses 1

Osteochondromas, Multiple

Enchondromatosis

Glucuronyltransferase/N-Acetylglucosaminyltransferase Deficiency

Ext1/Ext2-Cdg

Multiple Congenital Exostoses

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
Felis catus NAE1 VGNC VGNC:67883
Rattus norvegicus NAE1 RGD RGD:619945
Mus musculus NAE1 MGD MGI:2384561
Canis familiaris NAE1 VGNC VGNC:43607
Bos taurus NAE1 VGNC VGNC:31866
Macaca mulatta NAE1 VGNC VGNC:75064