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Protein

Ganglioside-induced differentiation-associated protein 2

Gene

GDAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32661-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ganglioside-induced differentiation-associated protein 2
Gene namesi
Name:GDAP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:18010. GDAP2.

Subcellular locationi

GO - Cellular componenti

  • lysosomal membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi54834.
OpenTargetsiENSG00000196505.
PharmGKBiPA28628.

Polymorphism and mutation databases

BioMutaiGDAP2.
DMDMi74753050.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003313941 – 497Ganglioside-induced differentiation-associated protein 2Add BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei280PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NXN4.
MaxQBiQ9NXN4.
PaxDbiQ9NXN4.
PeptideAtlasiQ9NXN4.
PRIDEiQ9NXN4.

PTM databases

iPTMnetiQ9NXN4.
PhosphoSitePlusiQ9NXN4.

Expressioni

Gene expression databases

BgeeiENSG00000196505.
CleanExiHS_GDAP2.
GenevisibleiQ9NXN4. HS.

Organism-specific databases

HPAiHPA046185.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP76Q8TAP63EBI-10316460,EBI-742887

Protein-protein interaction databases

BioGridi120187. 3 interactors.
IntActiQ9NXN4. 2 interactors.
STRINGi9606.ENSP00000358451.

Structurei

Secondary structure

1497
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi9 – 11Combined sources3
Helixi13 – 15Combined sources3
Turni19 – 21Combined sources3
Helixi50 – 53Combined sources4
Beta strandi56 – 61Combined sources6
Helixi63 – 65Combined sources3
Beta strandi68 – 74Combined sources7
Helixi84 – 93Combined sources10
Helixi97 – 104Combined sources8
Beta strandi112 – 116Combined sources5
Beta strandi120 – 128Combined sources9
Helixi135 – 137Combined sources3
Helixi138 – 158Combined sources21
Beta strandi162 – 166Combined sources5
Helixi172 – 174Combined sources3
Helixi178 – 196Combined sources19
Helixi197 – 199Combined sources3
Beta strandi202 – 207Combined sources6
Helixi209 – 222Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UMLX-ray1.90A1-228[»]
ProteinModelPortaliQ9NXN4.
SMRiQ9NXN4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 223MacroPROSITE-ProRule annotationAdd BLAST181
Domaini333 – 481CRAL-TRIOAdd BLAST149

Sequence similaritiesi

Belongs to the GDAP2 family.Curated
Contains 1 CRAL-TRIO domain.Curated
Contains 1 Macro domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2633. Eukaryota.
COG2110. LUCA.
GeneTreeiENSGT00520000055566.
HOGENOMiHOG000029893.
HOVERGENiHBG097469.
InParanoidiQ9NXN4.
OMAiFTAIPPE.
OrthoDBiEOG091G0FFV.
PhylomeDBiQ9NXN4.
TreeFamiTF324164.

Family and domain databases

Gene3Di3.40.525.10. 1 hit.
InterProiIPR001251. CRAL-TRIO_dom.
IPR002589. Macro_dom.
[Graphical view]
PfamiPF13716. CRAL_TRIO_2. 1 hit.
PF01661. Macro. 1 hit.
[Graphical view]
SMARTiSM00506. A1pp. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF52087. SSF52087. 1 hit.
PROSITEiPS51154. MACRO. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NXN4-1) [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
MDPLGAPSQF VDVDTLPSWG DSCQDELNSS DTTAEIFQED TVRSPFLYNK
60 70 80 90 100
DVNGKVVLWK GDVALLNCTA IVNTSNESLT DKNPVSESIF MLAGPDLKED
110 120 130 140 150
LQKLKGCRTG EAKLTKGFNL AARFIIHTVG PKYKSRYRTA AESSLYSCYR
160 170 180 190 200
NVLQLAKEQS MSSVGFCVIN SAKRGYPLED ATHIALRTVR RFLEIHGETI
210 220 230 240 250
EKVVFAVSDL EEGTYQKLLP LYFPRSLKEE NRSLPYLPAD IGNAEGEPVV
260 270 280 290 300
PERQIRISEK PGAPEDNQEE EDEGLGVDLS FIGSHAFARM EGDIDKQRKL
310 320 330 340 350
ILQGQLSEAA LQKQHQRNYN RWLCQARSED LSDIASLKAL YQTGVDNCGR
360 370 380 390 400
TVMVVVGRNI PVTLIDMDKA LLYFIHVMDH IAVKEYVLVY FHTLTSEYNH
410 420 430 440 450
LDSDFLKKLY DVVDVKYKRN LKAVYFVHPT FRSKVSTWFF TTFSVSGLKD
460 470 480 490
KIHHVDSLHQ LFSAISPEQI DFPPFVLEYD ARENGPYYTS YPPSPDL
Length:497
Mass (Da):56,225
Last modified:October 1, 2000 - v1
Checksum:i96D8EF2AC79D5AEF
GO
Isoform 2 (identifier: Q9NXN4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     483-497: ENGPYYTSYPPSPDL → VRSTRSSPSPGMVY

Show »
Length:496
Mass (Da):56,049
Checksum:i8AB17BFDD22F9263
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04284395P → R.Corresponds to variant rs12752437dbSNPEnsembl.1
Natural variantiVAR_042844106G → S.Corresponds to variant rs12753610dbSNPEnsembl.1
Natural variantiVAR_042845312Q → P.Corresponds to variant rs12145577dbSNPEnsembl.1
Natural variantiVAR_042846489T → A.Corresponds to variant rs34924570dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033186483 – 497ENGPY…PSPDL → VRSTRSSPSPGMVY in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000149 mRNA. Translation: BAA90976.1.
AL122007, AL121993 Genomic DNA. Translation: CAI22655.1.
AL121993 Genomic DNA. Translation: CAI22737.1.
AL121993, AL122007 Genomic DNA. Translation: CAI22738.1.
CH471122 Genomic DNA. Translation: EAW56682.1.
CH471122 Genomic DNA. Translation: EAW56683.1.
BC013132 mRNA. Translation: AAH13132.1.
CCDSiCCDS44201.1. [Q9NXN4-2]
CCDS897.1. [Q9NXN4-1]
RefSeqiNP_001129061.1. NM_001135589.2. [Q9NXN4-2]
NP_060156.1. NM_017686.3. [Q9NXN4-1]
UniGeneiHs.310809.
Hs.594430.
Hs.667170.

Genome annotation databases

EnsembliENST00000369442; ENSP00000358450; ENSG00000196505. [Q9NXN4-2]
ENST00000369443; ENSP00000358451; ENSG00000196505. [Q9NXN4-1]
GeneIDi54834.
KEGGihsa:54834.
UCSCiuc001ehf.4. human. [Q9NXN4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000149 mRNA. Translation: BAA90976.1.
AL122007, AL121993 Genomic DNA. Translation: CAI22655.1.
AL121993 Genomic DNA. Translation: CAI22737.1.
AL121993, AL122007 Genomic DNA. Translation: CAI22738.1.
CH471122 Genomic DNA. Translation: EAW56682.1.
CH471122 Genomic DNA. Translation: EAW56683.1.
BC013132 mRNA. Translation: AAH13132.1.
CCDSiCCDS44201.1. [Q9NXN4-2]
CCDS897.1. [Q9NXN4-1]
RefSeqiNP_001129061.1. NM_001135589.2. [Q9NXN4-2]
NP_060156.1. NM_017686.3. [Q9NXN4-1]
UniGeneiHs.310809.
Hs.594430.
Hs.667170.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UMLX-ray1.90A1-228[»]
ProteinModelPortaliQ9NXN4.
SMRiQ9NXN4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120187. 3 interactors.
IntActiQ9NXN4. 2 interactors.
STRINGi9606.ENSP00000358451.

PTM databases

iPTMnetiQ9NXN4.
PhosphoSitePlusiQ9NXN4.

Polymorphism and mutation databases

BioMutaiGDAP2.
DMDMi74753050.

Proteomic databases

EPDiQ9NXN4.
MaxQBiQ9NXN4.
PaxDbiQ9NXN4.
PeptideAtlasiQ9NXN4.
PRIDEiQ9NXN4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369442; ENSP00000358450; ENSG00000196505. [Q9NXN4-2]
ENST00000369443; ENSP00000358451; ENSG00000196505. [Q9NXN4-1]
GeneIDi54834.
KEGGihsa:54834.
UCSCiuc001ehf.4. human. [Q9NXN4-1]

Organism-specific databases

CTDi54834.
DisGeNETi54834.
GeneCardsiGDAP2.
HGNCiHGNC:18010. GDAP2.
HPAiHPA046185.
neXtProtiNX_Q9NXN4.
OpenTargetsiENSG00000196505.
PharmGKBiPA28628.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2633. Eukaryota.
COG2110. LUCA.
GeneTreeiENSGT00520000055566.
HOGENOMiHOG000029893.
HOVERGENiHBG097469.
InParanoidiQ9NXN4.
OMAiFTAIPPE.
OrthoDBiEOG091G0FFV.
PhylomeDBiQ9NXN4.
TreeFamiTF324164.

Enzyme and pathway databases

BioCyciZFISH:G66-32661-MONOMER.

Miscellaneous databases

ChiTaRSiGDAP2. human.
GenomeRNAii54834.
PROiQ9NXN4.

Gene expression databases

BgeeiENSG00000196505.
CleanExiHS_GDAP2.
GenevisibleiQ9NXN4. HS.

Family and domain databases

Gene3Di3.40.525.10. 1 hit.
InterProiIPR001251. CRAL-TRIO_dom.
IPR002589. Macro_dom.
[Graphical view]
PfamiPF13716. CRAL_TRIO_2. 1 hit.
PF01661. Macro. 1 hit.
[Graphical view]
SMARTiSM00506. A1pp. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF52087. SSF52087. 1 hit.
PROSITEiPS51154. MACRO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGDAP2_HUMAN
AccessioniPrimary (citable) accession number: Q9NXN4
Secondary accession number(s): Q96DZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 131 of the entry and version 1 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.