Q9H1C3 (GL8D2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycosyltransferase 8 domain-containing protein 2
EC=2.4.1.-

Gene names

Name:	GLT8D2
Synonyms:	GALA4A
ORF Names:	UNQ1901/PRO4347

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	349 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	transferase activity, transferring glycosyl groups Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 349	349	Glycosyltransferase 8 domain-containing protein 2		PRO_0000271382
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 24	18	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	25 – 349	325	Lumenal Potential
Amino acid modifications
	Glycosylation	234	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	37	1	A → T. Ref.3 Corresponds to variant rs17035120 [ dbSNP | Ensembl ].		VAR_049247
Experimental info
	Sequence conflict	72	1	I → F in BAB55033. Ref.3
	Sequence conflict	227	1	N → D in BAB55033. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9H1C3 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 19FBF16C5AB1D647	FASTA	349	40,026
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00010445.
RefSeq	NP_112592.1. NM_031302.3.
UniGene	Hs.631650.
3D structure databases
ProteinModelPortal	Q9H1C3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000354053.
Protein family/group databases
CAZy	GT8. Glycosyltransferase Family 8.
PTM databases
PhosphoSite	Q9H1C3.
Polymorphism databases
DMDM	74733535.
Proteomic databases
PaxDb	Q9H1C3.
PRIDE	Q9H1C3.
Protocols and materials databases
DNASU	83468.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360814; ENSP00000354053; ENSG00000120820. ENST00000546436; ENSP00000449750; ENSG00000120820. ENST00000548660; ENSP00000447450; ENSG00000120820.
GeneID	83468.
KEGG	hsa:83468.
UCSC	uc001tkh.1. human.
Organism-specific databases
CTD	83468.
GeneCards	GC12M104382.
HGNC	HGNC:24890. GLT8D2.
HPA	HPA026904.
neXtProt	NX_Q9H1C3.
PharmGKB	PA134939919.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG74598.
HOGENOM	HOG000112730.
HOVERGEN	HBG055240.
InParanoid	Q9H1C3.
OMA	YSAINPL.
OrthoDB	EOG4HDSV3.
PhylomeDB	Q9H1C3.
Gene expression databases
ArrayExpress	Q9H1C3.
Bgee	Q9H1C3.
CleanEx	HS_GLT8D2.
Genevestigator	Q9H1C3.
Family and domain databases
InterPro	IPR002495. Glyco_trans_8. [Graphical view]
Pfam	PF01501. Glyco_transf_8. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	83468.
NextBio	72397.

Entry information

Entry name

GL8D2_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.