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GDAP1L1
  • TISSUE

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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene namei

Gene name according to HGNC.

GDAP1L1

Gene descriptioni

Gene description according to HGNC.

Ganglioside induced differentiation associated protein 1-like 1

Protein classi

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

Predicted intracellular proteins
Predicted membrane proteins

Predicted localizationi

Protein localization predicted from several bioinformatic algorithms.

Read more

Intracellular,Membrane

Number of transcriptsi

Number of protein-coding transcribed from this gene as defined by Ensembl.

9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue categoryi

RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.

Read more

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (caudate, cerebellum, cerebral cortex, hippocampus, hypothalamus, pituitary gland)
FANTOM5:Group enriched (brain, caudate, cerebellum, hippocampus, pituitary gland)

Protein evidencei

Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.

Evidence at protein level

Protein expressioni

A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.

"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.

Read more

Cytoplasmic expression in neuronal processes and Leydig cells.

DATA RELIABILITY

Data reliability
descriptioni

Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.

Antibody staining mainly consistent with RNA expression data. Pending external verification. Presumed off target binding observed and disregarded.

Reliability scorei

Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.

Read more

Approved based on 1 antibody.
HPA063265
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARYi

Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.

RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.

Read more
Brain
Hippocampus
N/A
Cerebral cortex
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Adrenal gland
Thyroid gland
Parathyroid gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Skeletal muscle
Heart muscle
Smooth muscle
Lung
Lung
Nasopharynx
N/A
Bronchus
N/A
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Small intestine
Salivary gland
Esophagus
Stomach
Duodenum
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Seminal vesicle
Prostate
Testis
Epididymis
Female tissues
Ovary
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEWi

Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.

For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEWi

RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.

HPA dataseti

HPA dataset
RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.

RNA tissue category HPA
HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataseti

GTEx dataset
RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.

RNA tissue category GTEx
GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (caudate, cerebellum, cerebral cortex, hippocampus, hypothalamus, pituitary gland)
FANTOM5 dataseti

FANTOM5 dataset
Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.

RNA tissue category FANTOM5
FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (brain, caudate, cerebellum, hippocampus, pituitary gland)

GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Gene name

GDAP1L1

Synonyms

Description

Ganglioside induced differentiation associated protein 1-like 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

20

Cytoband

q13.12

Chromosome location (bp)

44247099 - 44280917

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124194 (version 83.38)

Entrez gene

78997

UniProt

Q96MZ0 (UniProt - Evidence at transcript level)

neXtProt

NX_Q96MZ0

Antibodypedia

GDAP1L1 antibodies

PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.

GDAP1L1-001
GDAP1L1-002
GDAP1L1-004
GDAP1L1-005
GDAP1L1-006
GDAP1L1-201
GDAP1L1-202
GDAP1L1-203
GDAP1L1-204

PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GDAP1L1-001
ENSP00000341782
ENST00000342560
Q96MZ0 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
Show all
367 aa
42 kDa
No 2
GDAP1L1-002
ENSP00000391714
ENST00000447658
Q5TE58 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
Show all
123 aa
14.2 kDa
No 0
GDAP1L1-004
ENSP00000392881
ENST00000438466
Q5TE61 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
Show all
288 aa
32.9 kDa
No 0
GDAP1L1-005
ENSP00000362043
ENST00000372952
Q96MZ0 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
Show all
147 aa
16.5 kDa
No 0
GDAP1L1-006
ENSP00000404128
ENST00000445952
H0Y6A7 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
Show all
251 aa
28.8 kDa
No 0
GDAP1L1-201
ENSP00000440498
ENST00000537864
Q96MZ0 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
Show all
386 aa
43.8 kDa
No 2
GDAP1L1-202
ENSP00000480502
ENST00000612599
A0A087WWT8 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
GO:0016021 [integral component of membrane]
Show all
296 aa
33.8 kDa
No 2
GDAP1L1-203
ENSP00000483113
ENST00000616372
A0A087X057 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
GO:0016021 [integral component of membrane]
Show all
364 aa
41.2 kDa
No 2
GDAP1L1-204
ENSP00000478701
ENST00000617075
H0UIB3 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1-like 1; Ganglioside-induced differentiation-associated protein 1-like 1, isoform CRA_b
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004364 [glutathione transferase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006749 [glutathione metabolic process]
GO:0016021 [integral component of membrane]
Show all
278 aa
32 kDa
No 2

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.