Format

Send to:

Choose Destination

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

Gene ID: 78997, updated on 1-Jun-2020

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
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

Genomic context

See GDAP1L1 in Genome Data Viewer
Location:
20q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (44247099..44280947)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42875739..42909557)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene junctophilin 2 Neighboring gene JPH2 intron CAGE-defined T cell enhancer Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene OSER1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 13448 Neighboring gene fat storage inducing transmembrane protein 2 Neighboring gene uncharacterized LOC105372629 Neighboring gene R3H domain containing like

Genomic regions, transcripts, and products

Expression

  • 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

General gene information

Markers

Homology

Clone Names

  • DKFZp761K228

General protein information

Preferred Names
ganglioside-induced differentiation-associated protein 1-like 1
Names
GDAP1-L1

NCBI Reference Sequences (RefSeq)

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_001256737.1NP_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, BP307776, BX423630, CR749676
    Consensus CDS
    CCDS74725.1
    UniProtKB/Swiss-Prot
    Q96MZ0
    Related
    ENSP00000440498.2, ENST00000537864.5
    Conserved Domains (3) summary
    cd10302
    Location:220330
    GST_C_GDAP1L1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1-like 1
    COG0625
    Location:47333
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    cd03052
    Location:47119
    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_001256738.1NP_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, BC000199, BX423630, CR749676, DA528340
    Consensus CDS
    CCDS74727.1
    UniProtKB/Swiss-Prot
    Q96MZ0
    UniProtKB/TrEMBL
    H0UIB3
    Related
    ENSP00000478701.1, ENST00000617075.4
    Conserved Domains (2) summary
    cl00388
    Location:130
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    cl02776
    Location:112222
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
  3. NM_001256739.2NP_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/Swiss-Prot
    Q96MZ0
    UniProtKB/TrEMBL
    B7Z1I3
    Related
    ENSP00000392881.1, ENST00000438466.5
    Conserved Domains (2) summary
    cd03052
    Location:47119
    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:143253
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
  4. NM_001256740.1NP_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, BC000199, BP307776, BU165271, BX423630, CR749676
    Consensus CDS
    CCDS74726.1
    UniProtKB/Swiss-Prot
    Q96MZ0
    UniProtKB/TrEMBL
    A0A087WWT8
    Related
    ENSP00000480502.1, ENST00000612599.4
    Conserved Domains (2) summary
    cd03052
    Location:47119
    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:180240
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
  5. NM_024034.6NP_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
    Q96MZ0
    Related
    ENSP00000341782.5, ENST00000342560.9
    Conserved Domains (2) summary
    cd03052
    Location:47119
    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:201311
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

RNA

  1. NR_046353.2 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_936626.2 RNA Sequence

  2. XR_001754393.1 RNA Sequence

Support Center