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

    Gene ID: 78997, updated on 28-Oct-2024

    Summary

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    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

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    See GDAP1L1 in Genome Data Viewer
    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_000020.11Genomic 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    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 (15) 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

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp761K228

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP 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)

    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_2024_08

    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.

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