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Protein

Ganglioside-induced differentiation-associated protein 1-like 1

Gene

GDAP1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124194-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ganglioside-induced differentiation-associated protein 1-like 1
Short name:
GDAP1-L1
Gene namesi
Name:GDAP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:4213. GDAP1L1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000124194.
PharmGKBiPA28627.

Polymorphism and mutation databases

BioMutaiGDAP1L1.
DMDMi38257738.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001860401 – 367Ganglioside-induced differentiation-associated protein 1-like 1Add BLAST367

Proteomic databases

EPDiQ96MZ0.
PaxDbiQ96MZ0.
PeptideAtlasiQ96MZ0.
PRIDEiQ96MZ0.

PTM databases

iPTMnetiQ96MZ0.
PhosphoSitePlusiQ96MZ0.

Expressioni

Gene expression databases

BgeeiENSG00000124194.
CleanExiHS_GDAP1L1.
ExpressionAtlasiQ96MZ0. baseline and differential.
GenevisibleiQ96MZ0. HS.

Organism-specific databases

HPAiHPA063265.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000341782.

Structurei

3D structure databases

ProteinModelPortaliQ96MZ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 126GST N-terminalAdd BLAST82
Domaini174 – 341GST C-terminalAdd BLAST168

Sequence similaritiesi

Belongs to the GST superfamily.Curated
Contains 1 GST C-terminal domain.Curated
Contains 1 GST N-terminal domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4420. Eukaryota.
ENOG410YE2J. LUCA.
GeneTreeiENSGT00510000046788.
HOVERGENiHBG051717.
InParanoidiQ96MZ0.
OMAiQLTEPYL.
OrthoDBiEOG091G0BAC.
PhylomeDBiQ96MZ0.
TreeFamiTF327072.

Family and domain databases

Gene3Di1.20.1050.10. 1 hit.
3.40.30.10. 1 hit.
InterProiIPR010987. Glutathione-S-Trfase_C-like.
IPR004045. Glutathione_S-Trfase_N.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF13417. GST_N_3. 1 hit.
[Graphical view]
SUPFAMiSSF47616. SSF47616. 1 hit.
SSF52833. SSF52833. 1 hit.
PROSITEiPS50405. GST_CTER. 1 hit.
PS50404. GST_NTER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96MZ0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATPNNLTPT NCSWWPISAL ESDAAKPAEA PDAPEAASPA HWPRESLVLY
60 70 80 90 100
HWTQSFSSQK VRLVIAEKGL VCEERDVSLP QSEHKEPWFM RLNLGEEVPV
110 120 130 140 150
IIHRDNIISD YDQIIDYVER TFTGEHVVAL MPEVGSLQHA RVLQYRELLD
160 170 180 190 200
ALPMDAYTHG CILHPELTTD SMIPKYATAE IRRHLANATT DLMKLDHEEE
210 220 230 240 250
PQLSEPYLSK QKKLMAKILE HDDVSYLKKI LGELAMVLDQ IEAELEKRKL
260 270 280 290 300
ENEGQKCELW LCGCAFTLAD VLLGATLHRL KFLGLSKKYW EDGSRPNLQS
310 320 330 340 350
FFERVQRRFA FRKVLGDIHT TLLSAVIPNA FRLVKRKPPS FFGASFLMGS
360
LGGMGYFAYW YLKKKYI
Length:367
Mass (Da):41,973
Last modified:November 7, 2003 - v2
Checksum:iE8721C78663751B8
GO
Isoform 2 (identifier: Q96MZ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     125-147: EHVVALMPEVGSLQHARVLQYRE → GPRLAASLELRGANPRGQLGRAQ
     148-367: Missing.

Note: No experimental confirmation available.
Show »
Length:147
Mass (Da):16,459
Checksum:iECA51DA58702F807
GO
Isoform 3 (identifier: Q96MZ0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-124: G → GGGRGRCPSGFPAQPLAVPT

Note: No experimental confirmation available.
Show »
Length:386
Mass (Da):43,824
Checksum:i93F7E941CC8BDEAB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11N → S in BAB71128 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036556141R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs754794599dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053683124G → GGGRGRCPSGFPAQPLAVPT in isoform 3. 1 Publication1
Alternative sequenceiVSP_008793125 – 147EHVVA…LQYRE → GPRLAASLELRGANPRGQLG RAQ in isoform 2. CuratedAdd BLAST23
Alternative sequenceiVSP_008794148 – 367Missing in isoform 2. CuratedAdd BLAST220

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF277566 mRNA. Translation: AAM73515.1.
AK056251 mRNA. Translation: BAB71128.1.
AK299700 mRNA. Translation: BAH13107.1.
AL035462 Genomic DNA. Translation: CAC36290.1.
AL117382, AL035462 Genomic DNA. Translation: CAI23110.1.
AL035462, AL117382 Genomic DNA. Translation: CAI23551.1.
BC000199 mRNA. Translation: AAH00199.1.
BC009014 mRNA. Translation: AAH09014.1.
CR749676 mRNA. Translation: CAH18467.1.
CCDSiCCDS13328.1. [Q96MZ0-1]
CCDS74725.1. [Q96MZ0-4]
RefSeqiNP_001243666.1. NM_001256737.1. [Q96MZ0-4]
NP_001243667.1. NM_001256738.1.
NP_001243668.1. NM_001256739.1.
NP_001243669.1. NM_001256740.1.
NP_076939.3. NM_024034.4. [Q96MZ0-1]
UniGeneiHs.517059.

Genome annotation databases

EnsembliENST00000342560; ENSP00000341782; ENSG00000124194. [Q96MZ0-1]
ENST00000372952; ENSP00000362043; ENSG00000124194. [Q96MZ0-2]
ENST00000537864; ENSP00000440498; ENSG00000124194. [Q96MZ0-4]
GeneIDi78997.
KEGGihsa:78997.
UCSCiuc002xlq.5. human. [Q96MZ0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF277566 mRNA. Translation: AAM73515.1.
AK056251 mRNA. Translation: BAB71128.1.
AK299700 mRNA. Translation: BAH13107.1.
AL035462 Genomic DNA. Translation: CAC36290.1.
AL117382, AL035462 Genomic DNA. Translation: CAI23110.1.
AL035462, AL117382 Genomic DNA. Translation: CAI23551.1.
BC000199 mRNA. Translation: AAH00199.1.
BC009014 mRNA. Translation: AAH09014.1.
CR749676 mRNA. Translation: CAH18467.1.
CCDSiCCDS13328.1. [Q96MZ0-1]
CCDS74725.1. [Q96MZ0-4]
RefSeqiNP_001243666.1. NM_001256737.1. [Q96MZ0-4]
NP_001243667.1. NM_001256738.1.
NP_001243668.1. NM_001256739.1.
NP_001243669.1. NM_001256740.1.
NP_076939.3. NM_024034.4. [Q96MZ0-1]
UniGeneiHs.517059.

3D structure databases

ProteinModelPortaliQ96MZ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000341782.

PTM databases

iPTMnetiQ96MZ0.
PhosphoSitePlusiQ96MZ0.

Polymorphism and mutation databases

BioMutaiGDAP1L1.
DMDMi38257738.

Proteomic databases

EPDiQ96MZ0.
PaxDbiQ96MZ0.
PeptideAtlasiQ96MZ0.
PRIDEiQ96MZ0.

Protocols and materials databases

DNASUi78997.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342560; ENSP00000341782; ENSG00000124194. [Q96MZ0-1]
ENST00000372952; ENSP00000362043; ENSG00000124194. [Q96MZ0-2]
ENST00000537864; ENSP00000440498; ENSG00000124194. [Q96MZ0-4]
GeneIDi78997.
KEGGihsa:78997.
UCSCiuc002xlq.5. human. [Q96MZ0-1]

Organism-specific databases

CTDi78997.
GeneCardsiGDAP1L1.
HGNCiHGNC:4213. GDAP1L1.
HPAiHPA063265.
neXtProtiNX_Q96MZ0.
OpenTargetsiENSG00000124194.
PharmGKBiPA28627.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4420. Eukaryota.
ENOG410YE2J. LUCA.
GeneTreeiENSGT00510000046788.
HOVERGENiHBG051717.
InParanoidiQ96MZ0.
OMAiQLTEPYL.
OrthoDBiEOG091G0BAC.
PhylomeDBiQ96MZ0.
TreeFamiTF327072.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124194-MONOMER.

Miscellaneous databases

GenomeRNAii78997.
PROiQ96MZ0.

Gene expression databases

BgeeiENSG00000124194.
CleanExiHS_GDAP1L1.
ExpressionAtlasiQ96MZ0. baseline and differential.
GenevisibleiQ96MZ0. HS.

Family and domain databases

Gene3Di1.20.1050.10. 1 hit.
3.40.30.10. 1 hit.
InterProiIPR010987. Glutathione-S-Trfase_C-like.
IPR004045. Glutathione_S-Trfase_N.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF13417. GST_N_3. 1 hit.
[Graphical view]
SUPFAMiSSF47616. SSF47616. 1 hit.
SSF52833. SSF52833. 1 hit.
PROSITEiPS50405. GST_CTER. 1 hit.
PS50404. GST_NTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGD1L1_HUMAN
AccessioniPrimary (citable) accession number: Q96MZ0
Secondary accession number(s): B7Z621
, Q5TE60, Q68CW7, Q9BQJ7, Q9BQV4, Q9BWJ4, Q9H3Y2, Q9H4G5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 7, 2003
Last modified: November 2, 2016
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

While belonging to the GST superfamily, it probably lacks glutathione transferase activity.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.