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Protein

Glycosyltransferase 8 domain-containing protein 2

Gene

GLT8D2

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

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Protein family/group databases

CAZyiGT8 Glycosyltransferase Family 8

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase 8 domain-containing protein 2 (EC:2.4.1.-)
Gene namesi
Name:GLT8D2
Synonyms:GALA4A
ORF Names:UNQ1901/PRO4347
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000120820.12
HGNCiHGNC:24890 GLT8D2
neXtProtiNX_Q9H1C3

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6CytoplasmicSequence analysis6
Transmembranei7 – 24Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini25 – 349LumenalSequence analysisAdd BLAST325

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi83468
OpenTargetsiENSG00000120820
PharmGKBiPA134939919

Polymorphism and mutation databases

BioMutaiGLT8D2
DMDMi74733535

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002713821 – 349Glycosyltransferase 8 domain-containing protein 2Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi234N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H1C3
MaxQBiQ9H1C3
PaxDbiQ9H1C3
PeptideAtlasiQ9H1C3
PRIDEiQ9H1C3
ProteomicsDBi80397

PTM databases

iPTMnetiQ9H1C3
PhosphoSitePlusiQ9H1C3

Expressioni

Gene expression databases

BgeeiENSG00000120820 Expressed in 204 organ(s), highest expression level in tibia
CleanExiHS_GLT8D2
ExpressionAtlasiQ9H1C3 baseline and differential
GenevisibleiQ9H1C3 HS

Organism-specific databases

HPAiHPA026904

Interactioni

Protein-protein interaction databases

BioGridi123660, 15 interactors
STRINGi9606.ENSP00000354053

Structurei

3D structure databases

ProteinModelPortaliQ9H1C3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEE5 Eukaryota
ENOG41106K3 LUCA
GeneTreeiENSGT00390000016670
HOGENOMiHOG000112730
HOVERGENiHBG055240
InParanoidiQ9H1C3
OMAiHIRKWIE
OrthoDBiEOG091G0CFQ
PhylomeDBiQ9H1C3
TreeFamiTF332433

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9H1C3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALLRKINQV LLFLLIVTLC VILYKKVHKG TVPKNDADDE SETPEELEEE
60 70 80 90 100
IPVVICAAAG RMGATMAAIN SIYSNTDANI LFYVVGLRNT LTRIRKWIEH
110 120 130 140 150
SKLREINFKI VEFNPMVLKG KIRPDSSRPE LLQPLNFVRF YLPLLIHQHE
160 170 180 190 200
KVIYLDDDVI VQGDIQELYD TTLALGHAAA FSDDCDLPSA QDINRLVGLQ
210 220 230 240 250
NTYMGYLDYR KKAIKDLGIS PSTCSFNPGV IVANMTEWKH QRITKQLEKW
260 270 280 290 300
MQKNVEENLY SSSLGGGVAT SPMLIVFHGK YSTINPLWHI RHLGWNPDAR
310 320 330 340
YSEHFLQEAK LLHWNGRHKP WDFPSVHNDL WESWFVPDPA GIFKLNHHS
Length:349
Mass (Da):40,026
Last modified:March 1, 2001 - v1
Checksum:i19FBF16C5AB1D647
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VU19F8VU19_HUMAN
Glycosyltransferase 8 domain-contai...
GLT8D2
83Annotation score:
F8VZP2F8VZP2_HUMAN
Glycosyltransferase 8 domain-contai...
GLT8D2
66Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti72I → F in BAB55033 (PubMed:14702039).Curated1
Sequence conflicti227N → D in BAB55033 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04924737A → T1 PublicationCorresponds to variant dbSNP:rs17035120Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271711 mRNA Translation: CAC19667.1
AY358763 mRNA Translation: AAQ89123.1
AK027310 mRNA Translation: BAB55033.1
AK056056 mRNA Translation: BAB71085.1
BC022343 mRNA Translation: AAH22343.1
CCDSiCCDS9096.1
RefSeqiNP_001303896.1, NM_001316967.1
NP_112592.1, NM_031302.4
XP_011537095.1, XM_011538793.2
XP_016875488.1, XM_017019999.1
UniGeneiHs.631650

Genome annotation databases

EnsembliENST00000360814; ENSP00000354053; ENSG00000120820
ENST00000546436; ENSP00000449750; ENSG00000120820
ENST00000548660; ENSP00000447450; ENSG00000120820
GeneIDi83468
KEGGihsa:83468
UCSCiuc001tkh.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271711 mRNA Translation: CAC19667.1
AY358763 mRNA Translation: AAQ89123.1
AK027310 mRNA Translation: BAB55033.1
AK056056 mRNA Translation: BAB71085.1
BC022343 mRNA Translation: AAH22343.1
CCDSiCCDS9096.1
RefSeqiNP_001303896.1, NM_001316967.1
NP_112592.1, NM_031302.4
XP_011537095.1, XM_011538793.2
XP_016875488.1, XM_017019999.1
UniGeneiHs.631650

3D structure databases

ProteinModelPortaliQ9H1C3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123660, 15 interactors
STRINGi9606.ENSP00000354053

Protein family/group databases

CAZyiGT8 Glycosyltransferase Family 8

PTM databases

iPTMnetiQ9H1C3
PhosphoSitePlusiQ9H1C3

Polymorphism and mutation databases

BioMutaiGLT8D2
DMDMi74733535

Proteomic databases

EPDiQ9H1C3
MaxQBiQ9H1C3
PaxDbiQ9H1C3
PeptideAtlasiQ9H1C3
PRIDEiQ9H1C3
ProteomicsDBi80397

Protocols and materials databases

DNASUi83468
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360814; ENSP00000354053; ENSG00000120820
ENST00000546436; ENSP00000449750; ENSG00000120820
ENST00000548660; ENSP00000447450; ENSG00000120820
GeneIDi83468
KEGGihsa:83468
UCSCiuc001tkh.2 human

Organism-specific databases

CTDi83468
DisGeNETi83468
EuPathDBiHostDB:ENSG00000120820.12
GeneCardsiGLT8D2
HGNCiHGNC:24890 GLT8D2
HPAiHPA026904
neXtProtiNX_Q9H1C3
OpenTargetsiENSG00000120820
PharmGKBiPA134939919
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEE5 Eukaryota
ENOG41106K3 LUCA
GeneTreeiENSGT00390000016670
HOGENOMiHOG000112730
HOVERGENiHBG055240
InParanoidiQ9H1C3
OMAiHIRKWIE
OrthoDBiEOG091G0CFQ
PhylomeDBiQ9H1C3
TreeFamiTF332433

Miscellaneous databases

GenomeRNAii83468
PROiPR:Q9H1C3

Gene expression databases

BgeeiENSG00000120820 Expressed in 204 organ(s), highest expression level in tibia
CleanExiHS_GLT8D2
ExpressionAtlasiQ9H1C3 baseline and differential
GenevisibleiQ9H1C3 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGL8D2_HUMAN
AccessioniPrimary (citable) accession number: Q9H1C3
Secondary accession number(s): Q96KA2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 114 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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