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Protein

Ganglioside-induced differentiation-associated protein 2

Gene

GDAP2

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

Functioni

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000196505.10
HGNCiHGNC:18010 GDAP2
neXtProtiNX_Q9NXN4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi83115
83116 [Q9NXN4-2]

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, 8 interactors
IntActiQ9NXN4, 3 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

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

Phylogenomic databases

eggNOGiKOG2633 Eukaryota
COG2110 LUCA
GeneTreeiENSGT00520000055566
HOGENOMiHOG000029893
HOVERGENiHBG097469
InParanoidiQ9NXN4
OMAiWFFTTFT
OrthoDBiEOG091G0FFV
PhylomeDBiQ9NXN4
TreeFamiTF324164

Family and domain databases

CDDicd02905 Macro_GDAP2_like, 1 hit
cd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR002589 Macro_dom
IPR035793 Macro_GDAP2
PfamiView protein in Pfam
PF13716 CRAL_TRIO_2, 1 hit
PF01661 Macro, 1 hit
SMARTiView protein in SMART
SM00506 A1pp, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS51154 MACRO, 1 hit

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 dbSNP:rs12752437Ensembl.1
Natural variantiVAR_042844106G → S. Corresponds to variant dbSNP:rs12753610Ensembl.1
Natural variantiVAR_042845312Q → P. Corresponds to variant dbSNP:rs12145577Ensembl.1
Natural variantiVAR_042846489T → A. Corresponds to variant dbSNP:rs34924570Ensembl.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 Genomic DNA No translation available.
AL121993 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiGDAP2_HUMAN
AccessioniPrimary (citable) accession number: Q9NXN4
Secondary accession number(s): Q96DZ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 1, 2000
Last modified: July 18, 2018
This is version 144 of the entry and version 1 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

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

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