GDAP1L1

Protein identityUniProt · HPA

UniProt accession

Q96MZ0

Gene

GDAP1L1

Ensembl

ENSG00000124194

Chromosome

20

Canonical length

367 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>Q96MZ0|GDAP1L1
     1  MATPNNLTPT NCSWWPISAL ESDAAKPAEA PDAPEAASPA HWPRESLVLY HWTQSFSSQK
    61  VRLVIAEKGL VCEERDVSLP QSEHKEPWFM RLNLGEEVPV IIHRDNIISD YDQIIDYVER
   121  TFTGEHVVAL MPEVGSLQHA RVLQYRELLD ALPMDAYTHG CILHPELTTD SMIPKYATAE
   181  IRRHLANATT DLMKLDHEEE PQLSEPYLSK QKKLMAKILE HDDVSYLKKI LGELAMVLDQ
   241  IEAELEKRKL ENEGQKCELW LCGCAFTLAD VLLGATLHRL KFLGLSKKYW EDGSRPNLQS
   301  FFERVQRRFA FRKVLGDIHT TLLSAVIPNA FRLVKRKPPS FFGASFLMGS LGGMGYFAYW
   361  YLKKKYI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDAP1L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

62 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.55

gnomAD pLI

0.45

gnomAD missense Z

1.72

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Glutathione S-transferase, N-terminal
• Glutathione S-transferase, C-terminal-like
• Thioredoxin-like superfamily
• Glutathione S-transferase, C-terminal domain superfamily
• Glutathione S-transferase, N-terminal domain
• Glutathione S-transferase, C-terminal domain

KeywordsUniProt

• Coiled coil