Seroatlas · Human Serome Atlas

GDAP1

Ganglioside-induced differentiation-associated protein 1

Also known as: CMT2K, CMT4, CMT4A, GDAP1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TB36
Gene: GDAP1
Ensembl: ENSG00000104381
Chromosome: 8
Canonical length: 358 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Mitochondria,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

358 residues, UniProt reviewed canonical sequence.

>Q8TB36|GDAP1
     1  MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK CEEHDVSLPL
    61  SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT FLDERTPRLM PDKESMYYPR
   121  VQHYRELLDS LPMDAYTHGC ILHPELTVDS MIPAYATTRI RSQIGNTESE LKKLAEENPD
   181  LQEAYIAKQK RLKSKLLDHD NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC
   241  GESFTLADVS LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL
   301  ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA FRPRPNYF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDAP1 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: Other membrane
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 40 nTPM
hypothalamus: 26 nTPM
cerebellum: 24 nTPM
basal ganglia: 23 nTPM
amygdala: 19 nTPM
hippocampal formation: 19 nTPM

Single-cell type

oligodendrocyte progenitor cells: 471 nCPM
brain excitatory neurons: 448 nCPM
brain inhibitory neurons: 363 nCPM
other brain neurons: 363 nCPM
lactotrophs: 335 nCPM
somatotrophs: 327 nCPM

Immune cell

non-classical monocyte: 5.6 nTPM
T-reg: 4 nTPM
intermediate monocyte: 3.1 nTPM
neutrophil: 1.7 nTPM
memory B-cell: 1.4 nTPM
memory CD8 T-cell: 1.3 nTPM

Brain region

cerebral cortex: 62 nTPM
basal ganglia: 55 nTPM
hippocampal formation: 52 nTPM
hypothalamus: 51 nTPM
white matter: 50 nTPM
pons: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDAP1.

Disease | AllUniProt

Conditions GDAP1 is implicated in, by any mechanism.

Charcot-Marie-Tooth disease, demyelinating, type 4A (CMT4A) MIM:214400
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) MIM:607706
Charcot-Marie-Tooth disease, axonal, type 2K (CMT2K) MIM:607831
Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA) MIM:608340

Disease | GeneticClinVar

103 pathogenic / likely-pathogenic of 638 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

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): 1.16
gnomAD pLI: 0
gnomAD missense Z: 1
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

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 transferase family
Glutathione S-transferase, C-terminal domain
Glutathione S-transferase, N-terminal domain
Ganglioside-induced differentiation-associated protein 1, C-terminal domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GDAP1 as an antibody target. Whether an autoantibody or antibody against GDAP1 could matter depends on whether native GDAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GDAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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