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Protein

Ganglioside-induced differentiation-associated protein 1-like 1

Gene

GDAP1L1

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

Functioni

Caution

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

GO - Molecular functioni

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000124194.15
HGNCiHGNC:4213 GDAP1L1
neXtProtiNX_Q96MZ0

Subcellular locationi

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

HPAiHPA054182
HPA063265

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4420 Eukaryota
ENOG410YE2J LUCA
GeneTreeiENSGT00510000046788
HOVERGENiHBG051717
InParanoidiQ96MZ0
KOiK22077
OMAiFHPYNFY
OrthoDBiEOG091G0BAC
PhylomeDBiQ96MZ0
TreeFamiTF327072

Family and domain databases

InterProiView protein in InterPro
IPR034336 GDAP1
IPR010987 Glutathione-S-Trfase_C-like
IPR036282 Glutathione-S-Trfase_C_sf
IPR004045 Glutathione_S-Trfase_N
IPR036249 Thioredoxin-like_sf
PANTHERiPTHR44188 PTHR44188, 1 hit
PfamiView protein in Pfam
PF13417 GST_N_3, 1 hit
SUPFAMiSSF47616 SSF47616, 1 hit
SSF52833 SSF52833, 1 hit
PROSITEiView protein in PROSITE
PS50405 GST_CTER, 1 hit
PS50404 GST_NTER, 1 hit

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 dbSNP:rs754794599Ensembl.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 No translation available.
AL117382 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiGD1L1_HUMAN
AccessioniPrimary (citable) accession number: Q96MZ0
Secondary accession number(s): B7Z621
, Q5TE60, Q68CW7, Q9BQJ7, Q9BQV4, Q9BWJ4, Q9H3Y2, Q9H4G5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 7, 2003
Last modified: March 28, 2018
This is version 127 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

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