GDAP1L1

The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]

Description

Ganglioside induced differentiation associated protein 1 like 1

Tissue specificity

Group enriched (brain, pituitary gland)

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (44247099 - 44280947)

Ensembl ID

ENSG00000124194  (ver. 103.38)

Orthologs

Mouse Gdap1l1: ENSMUSG00000017943

UniProt

Q96MZ0

neXtProt

NX_Q96MZ0

Human splice variants
Mouse splice variants

Protein structure