GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDAP1L1provided by HGNC
Official Full Name: ganglioside induced differentiation associated protein 1 like 1provided by HGNC
Primary source: HGNC:HGNC:4213
See related: Ensembl:ENSG00000124194 AllianceGenome:HGNC:4213
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: dJ881L22.1; dJ995J12.1.1
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]
Expression: Biased expression in brain (RPKM 7.9), adrenal (RPKM 0.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (44247099..44280947)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (45981764..46015625)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (42875739..42909587)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Psoriasiform Inflammation Is Associated with Mitochondrial Fission/GDAP1L1 Signaling in Macrophages.
Title: Psoriasiform Inflammation Is Associated with Mitochondrial Fission/GDAP1L1 Signaling in Macrophages.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12725 (e-PCR)
- UniSTS:15005

D20S1054 (e-PCR)
- UniSTS:60354

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: ganglioside-induced differentiation-associated protein 1-like 1

Names: GDAP1-L1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001256737.2 → NP_001243666.1 ganglioside-induced differentiation-associated protein 1-like 1 isoform 1

See identical proteins and their annotated locations for NP_001243666.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AI564068, AK299700, AL117382, BP307776, BX423630, CR749676

Consensus CDS

CCDS74725.1

UniProtKB/TrEMBL

B7Z5P3

Related

ENSP00000440498.2, ENST00000537864.5

Conserved Domains (3) summary

cd10302
Location:220 → 330

GST_C_GDAP1L1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1-like 1

COG0625
Location:47 → 333

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03052
Location:47 → 119

GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...
NM_001256738.2 → NP_001243667.1 ganglioside-induced differentiation-associated protein 1-like 1 isoform 3

See identical proteins and their annotated locations for NP_001243667.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct first exon and uses an alternate in-frame splice junction at the 5' end of an exon, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.

Source sequence(s)

AI564068, AL117382, BC000199, BX423630, CR749676, DA528340

Consensus CDS

CCDS74727.1

UniProtKB/TrEMBL

B7Z5P3, H0UIB3

Related

ENSP00000478701.1, ENST00000617075.4

Conserved Domains (2) summary

cl00388
Location:1 → 30

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

cl02776
Location:112 → 222

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
NM_001256739.3 → NP_001243668.1 ganglioside-induced differentiation-associated protein 1-like 1 isoform 4

See identical proteins and their annotated locations for NP_001243668.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI564068, AK293484, AL117382, BP307776, BX423630, CR749676

UniProtKB/TrEMBL

B7Z1I3, Q5TE61

Related

ENSP00000392881.1, ENST00000438466.5

Conserved Domains (2) summary

cd03052
Location:47 → 119

GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...

cl02776
Location:143 → 253

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
NM_001256740.2 → NP_001243669.1 ganglioside-induced differentiation-associated protein 1-like 1 isoform 5

See identical proteins and their annotated locations for NP_001243669.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice junction at the 5' end of an exon and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI564068, AL117382, BC000199, BP307776, BU165271, BX423630, CR749676

Consensus CDS

CCDS74726.1

UniProtKB/TrEMBL

A0A087WWT8

Related

ENSP00000480502.1, ENST00000612599.4

Conserved Domains (2) summary

cd03052
Location:47 → 119

GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...

cl02776
Location:180 → 240

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
NM_024034.6 → NP_076939.3 ganglioside-induced differentiation-associated protein 1-like 1 isoform 2

See identical proteins and their annotated locations for NP_076939.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI564068, AL117382, BC000199, BX423630, CR749676

Consensus CDS

CCDS13328.1

UniProtKB/Swiss-Prot

B7Z621, Q5TE60, Q68CW7, Q96MZ0, Q9BQJ7, Q9BQV4, Q9BWJ4, Q9H3Y2, Q9H4G5

UniProtKB/TrEMBL

B7Z5P3

Related

ENSP00000341782.5, ENST00000342560.10

Conserved Domains (2) summary

cd03052
Location:47 → 119

GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...

cl02776
Location:201 → 311

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

RNA

NR_046353.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame segment compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI564068, AK297348, AL117382, BP307776, BX423630, CR749676