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Q9H1C3

- GL8D2_HUMAN

UniProt

Q9H1C3 - GL8D2_HUMAN

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Protein

Glycosyltransferase 8 domain-containing protein 2

Gene

GLT8D2

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

Functioni

GO - Molecular functioni

  1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, 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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:24890. GLT8D2.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134939919.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 349349Glycosyltransferase 8 domain-containing protein 2PRO_0000271382Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi234 – 2341N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9H1C3.
PaxDbiQ9H1C3.
PRIDEiQ9H1C3.

PTM databases

PhosphoSiteiQ9H1C3.

Expressioni

Gene expression databases

BgeeiQ9H1C3.
CleanExiHS_GLT8D2.
ExpressionAtlasiQ9H1C3. baseline and differential.
GenevestigatoriQ9H1C3.

Organism-specific databases

HPAiHPA026904.

Interactioni

Protein-protein interaction databases

BioGridi123660. 10 interactions.
STRINGi9606.ENSP00000354053.

Structurei

3D structure databases

ProteinModelPortaliQ9H1C3.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence Analysis
Topological domaini25 – 349325LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2418Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG74598.
GeneTreeiENSGT00390000016670.
HOGENOMiHOG000112730.
HOVERGENiHBG055240.
InParanoidiQ9H1C3.
OMAiYSAINPL.
OrthoDBiEOG7RBZ8R.
PhylomeDBiQ9H1C3.
TreeFamiTF332433.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti72 – 721I → F in BAB55033. (PubMed:14702039)Curated
Sequence conflicti227 – 2271N → D in BAB55033. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371A → T.1 Publication
Corresponds to variant rs17035120 [ dbSNP | Ensembl ].
VAR_049247

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_112592.1. NM_031302.3.
XP_005269228.1. XM_005269171.1.
UniGeneiHs.631650.

Genome annotation databases

EnsembliENST00000360814; ENSP00000354053; ENSG00000120820.
ENST00000546436; ENSP00000449750; ENSG00000120820.
ENST00000548660; ENSP00000447450; ENSG00000120820.
GeneIDi83468.
KEGGihsa:83468.
UCSCiuc001tkh.1. human.

Polymorphism databases

DMDMi74733535.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9096.1.
RefSeqi NP_112592.1. NM_031302.3.
XP_005269228.1. XM_005269171.1.
UniGenei Hs.631650.

3D structure databases

ProteinModelPortali Q9H1C3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123660. 10 interactions.
STRINGi 9606.ENSP00000354053.

Protein family/group databases

CAZyi GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSitei Q9H1C3.

Polymorphism databases

DMDMi 74733535.

Proteomic databases

MaxQBi Q9H1C3.
PaxDbi Q9H1C3.
PRIDEi Q9H1C3.

Protocols and materials databases

DNASUi 83468.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360814 ; ENSP00000354053 ; ENSG00000120820 .
ENST00000546436 ; ENSP00000449750 ; ENSG00000120820 .
ENST00000548660 ; ENSP00000447450 ; ENSG00000120820 .
GeneIDi 83468.
KEGGi hsa:83468.
UCSCi uc001tkh.1. human.

Organism-specific databases

CTDi 83468.
GeneCardsi GC12M104382.
HGNCi HGNC:24890. GLT8D2.
HPAi HPA026904.
neXtProti NX_Q9H1C3.
PharmGKBi PA134939919.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG74598.
GeneTreei ENSGT00390000016670.
HOGENOMi HOG000112730.
HOVERGENi HBG055240.
InParanoidi Q9H1C3.
OMAi YSAINPL.
OrthoDBi EOG7RBZ8R.
PhylomeDBi Q9H1C3.
TreeFami TF332433.

Miscellaneous databases

GenomeRNAii 83468.
NextBioi 72397.
PROi Q9H1C3.

Gene expression databases

Bgeei Q9H1C3.
CleanExi HS_GLT8D2.
ExpressionAtlasi Q9H1C3. baseline and differential.
Genevestigatori Q9H1C3.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
Pfami PF01501. Glyco_transf_8. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Gala4a, glycosyltransferase."
    Steffensen R., Bennett E.P.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-37.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Prostate.

Entry informationi

Entry nameiGL8D2_HUMAN
AccessioniPrimary (citable) accession number: Q9H1C3
Secondary accession number(s): Q96KA2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 92 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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

External Data

Dasty 3