U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 78997, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
20q13.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44247099..44280947)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (45981764..46015625)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42875739..42909587)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene junctophilin 2 Neighboring gene uncharacterized LOC124904909 Neighboring gene JPH2 intron CAGE-defined T cell enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr20:42795218-42795478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42806021-42806521 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42809003-42809909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42810816-42811722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:42832370-42833569 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42838821-42839440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12940 Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene OSER1 divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42860439-42861068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42875650-42876448 Neighboring gene Sharpr-MPRA regulatory region 13448 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:42900885-42901394 Neighboring gene Sharpr-MPRA regulatory region 2613 Neighboring gene uncharacterized LOC124904910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42938689-42939418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42939419-42940148 Neighboring gene fat storage inducing transmembrane protein 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. HUNT: launch of a full-length cDNA database from the Helix Research Institute. Yudate HT, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125086, Free PMC Article
  2. Psoriasiform Inflammation Is Associated with Mitochondrial Fission/GDAP1L1 Signaling in Macrophages. Alalaiwe A, et al. Int J Mol Sci, 2021 Sep 27. PMID 34638757, Free PMC Article
  3. Fibril treatment changes protein interactions of tau and α-synuclein in human neurons. Griffin TA, et al. J Biol Chem, 2023 Mar. PMID 36634849, Free PMC Article
  4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • DKFZp761K228

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
ganglioside-induced differentiation-associated protein 1-like 1
Names
GDAP1-L1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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 ...

  2. 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

  3. 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

  4. 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

  5. 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

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    44247099..44280947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    45981764..46015625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008485296.1 RNA Sequence

  2. XR_008485297.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96MZ0.2 GenPept UniProtKB/Swiss-Prot:Q96MZ0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous