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Q9H1C3 (GL8D2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycosyltransferase 8 domain-containing protein 2

EC=2.4.1.-
Gene names
Name:GLT8D2
Synonyms:GALA4A
ORF Names:UNQ1901/PRO4347
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length349 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type II membrane protein Potential.

Sequence similarities

Belongs to the glycosyltransferase 8 family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functiontransferase activity, transferring glycosyl groups

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 349349Glycosyltransferase 8 domain-containing protein 2
PRO_0000271382

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2418Helical; Signal-anchor for type II membrane protein; Potential
Topological domain25 – 349325Lumenal Potential

Amino acid modifications

Glycosylation2341N-linked (GlcNAc...) Potential

Natural variations

Natural variant371A → T. Ref.3
Corresponds to variant rs17035120 [ dbSNP | Ensembl ].
VAR_049247

Experimental info

Sequence conflict721I → F in BAB55033. Ref.3
Sequence conflict2271N → D in BAB55033. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9H1C3 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 19FBF16C5AB1D647

FASTA34940,026
        10         20         30         40         50         60 
MALLRKINQV LLFLLIVTLC VILYKKVHKG TVPKNDADDE SETPEELEEE IPVVICAAAG 

        70         80         90        100        110        120 
RMGATMAAIN SIYSNTDANI LFYVVGLRNT LTRIRKWIEH SKLREINFKI VEFNPMVLKG 

       130        140        150        160        170        180 
KIRPDSSRPE LLQPLNFVRF YLPLLIHQHE KVIYLDDDVI VQGDIQELYD TTLALGHAAA 

       190        200        210        220        230        240 
FSDDCDLPSA QDINRLVGLQ NTYMGYLDYR KKAIKDLGIS PSTCSFNPGV IVANMTEWKH 

       250        260        270        280        290        300 
QRITKQLEKW MQKNVEENLY SSSLGGGVAT SPMLIVFHGK YSTINPLWHI RHLGWNPDAR 

       310        320        330        340 
YSEHFLQEAK LLHWNGRHKP WDFPSVHNDL WESWFVPDPA GIFKLNHHS 

« Hide

References

« Hide 'large scale' references
[1]"Gala4a, glycosyltransferase."
Steffensen R., Bennett E.P.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9096.1.
RefSeqNP_112592.1. NM_031302.3.
XP_005269228.1. XM_005269171.1.
UniGeneHs.631650.

3D structure databases

ProteinModelPortalQ9H1C3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123660. 1 interaction.
STRING9606.ENSP00000354053.

Protein family/group databases

CAZyGT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSiteQ9H1C3.

Polymorphism databases

DMDM74733535.

Proteomic databases

MaxQBQ9H1C3.
PaxDbQ9H1C3.
PRIDEQ9H1C3.

Protocols and materials databases

DNASU83468.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360814; ENSP00000354053; ENSG00000120820.
ENST00000546436; ENSP00000449750; ENSG00000120820.
ENST00000548660; ENSP00000447450; ENSG00000120820.
GeneID83468.
KEGGhsa:83468.
UCSCuc001tkh.1. human.

Organism-specific databases

CTD83468.
GeneCardsGC12M104382.
HGNCHGNC:24890. GLT8D2.
HPAHPA026904.
neXtProtNX_Q9H1C3.
PharmGKBPA134939919.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG74598.
HOGENOMHOG000112730.
HOVERGENHBG055240.
InParanoidQ9H1C3.
OMAYSAINPL.
OrthoDBEOG7RBZ8R.
PhylomeDBQ9H1C3.
TreeFamTF332433.

Gene expression databases

ArrayExpressQ9H1C3.
BgeeQ9H1C3.
CleanExHS_GLT8D2.
GenevestigatorQ9H1C3.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi83468.
NextBio72397.
PROQ9H1C3.

Entry information

Entry nameGL8D2_HUMAN
AccessionPrimary (citable) accession number: Q9H1C3
Secondary accession number(s): Q96KA2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM