Reviewed, UniProtKB/Swiss-Prot Q5NDL2 (AER61_HUMAN)

Names and origin

Protein names

Recommended name:
    Uncharacterized glycosyltransferase AER61
    EC=2.4.-.-

Gene names

Name:	AER61
Synonyms:	C3orf64

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	527 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location	Secreted Potential.
Sequence similarities	Belongs to the glycosyltransferase 61 family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing
Domain	Signal
Molecular function	Transferase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	endoplasmic reticulum Inferred from electronic annotation. Source: InterPro extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	transferase activity, transferring glycosyl groups Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5NDL2-1)

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.

Isoform 2 (identifier: Q5NDL2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: F → C
     209-527: Missing.

Isoform 3 (identifier: Q5NDL2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     278-361: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 17	17	Potential
	Chain	18 – 527	510	Uncharacterized glycosyltransferase AER61		PRO_0000301970
Regions
	Motif	524 – 527	4	Prevents secretion from ER Potential
Amino acid modifications
	Glycosylation	354	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	208	1	F → C in isoform 2.		VSP_027897
	Alternative sequence	209 – 527	319	Missing in isoform 2.		VSP_027898
	Alternative sequence	278 – 361	84	Missing in isoform 3.		VSP_027899
Experimental info
	Sequence conflict	199	1	Q → R in BAC86479. Ref.2
	Sequence conflict	247	1	Y → C in CAE45897. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 1, 2005. Version 1. Checksum: C34D267187BFDDA9	FASTA	527	62,011
	10 20 30 40 50 60 MLMLFVFGVL LHEVSLSGQN EAPPNTHSIP GEPLYNYASI RLPEEHIPFF LHNNRHIATV 70 80 90 100 110 120 CRKDSLCPYK KHLEKLKYCW GYEKSCKPEF RFGYPVCSYV DMGWTDTLES AEDIFWKQAD 130 140 150 160 170 180 FGYARERLEE MHVLCQPKET SDSSLVCSRY LQYCRATNLY LDLRNIKRNH DRFKEDFFQS 190 200 210 220 230 240 GEIGGHCKLD IRTLTSEGQR KSPLQSWFAE LQSYTQLNFR PIEDAKCDIV IEKPTYFMKL 250 260 270 280 290 300 DAGVNMYHHF CDFINLYITQ HVNNSFSTDV YIVMWDTSSY GYGDLFSDTW NAFTDYDVIH 310 320 330 340 350 360 LKTYDSKRVC FKEAVFSLLP RMRYGLFYNT PLISGCQNTG LFRAFAQHVL HRLNITQEGP 370 380 390 400 410 420 KDGKIRVTIL ARSTEYRKIL NQNELVNALK TVSTFEVQIV DYKYRELGFL DQLRITHNTD 430 440 450 460 470 480 IFIGMHGAGL THLLFLPDWA AVFELYNCED ERCYLDLARL RGVHYITWRR QNKVFPQDKG 490 500 510 520 HHPTLGEHPK FTNYSFDVEE FMYLVLQAAD HVLQHPKWPF KKKHDEL
	Isoform 2. Checksum: 387DDF61D5A96C3A	FASTA	208	24,403
	10 20 30 40 50 60 MLMLFVFGVL LHEVSLSGQN EAPPNTHSIP GEPLYNYASI RLPEEHIPFF LHNNRHIATV 70 80 90 100 110 120 CRKDSLCPYK KHLEKLKYCW GYEKSCKPEF RFGYPVCSYV DMGWTDTLES AEDIFWKQAD 130 140 150 160 170 180 FGYARERLEE MHVLCQPKET SDSSLVCSRY LQYCRATNLY LDLRNIKRNH DRFKEDFFQS 190 200 GEIGGHCKLD IRTLTSEGQR KSPLQSWC
	Isoform 3. Checksum: EB338AE6E854889F	FASTA	443	52,297
	10 20 30 40 50 60 MLMLFVFGVL LHEVSLSGQN EAPPNTHSIP GEPLYNYASI RLPEEHIPFF LHNNRHIATV 70 80 90 100 110 120 CRKDSLCPYK KHLEKLKYCW GYEKSCKPEF RFGYPVCSYV DMGWTDTLES AEDIFWKQAD 130 140 150 160 170 180 FGYARERLEE MHVLCQPKET SDSSLVCSRY LQYCRATNLY LDLRNIKRNH DRFKEDFFQS 190 200 210 220 230 240 GEIGGHCKLD IRTLTSEGQR KSPLQSWFAE LQSYTQLNFR PIEDAKCDIV IEKPTYFMKL 250 260 270 280 290 300 DAGVNMYHHF CDFINLYITQ HVNNSFSTDV YIVMWDTDGK IRVTILARST EYRKILNQNE 310 320 330 340 350 360 LVNALKTVST FEVQIVDYKY RELGFLDQLR ITHNTDIFIG MHGAGLTHLL FLPDWAAVFE 370 380 390 400 410 420 LYNCEDERCY LDLARLRGVH YITWRRQNKV FPQDKGHHPT LGEHPKFTNY SFDVEEFMYL 430 440 VLQAADHVLQ HPKWPFKKKH DEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Phylogeny of xylosyltransferases." Kiefer-Meyer M.C., Pagny S., Durambure G., Faye L., Gomord V., Mollicone R., Oriol R. Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thymus.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Placenta.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-527 (ISOFORM 1). Tissue: Oesophageal carcinoma.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ868234 mRNA. Translation: CAI30569.1. AK126187 mRNA. Translation: BAC86479.1. BC060887 mRNA. Translation: AAH60887.1. BX640821 mRNA. Translation: CAE45897.2.
IPI	IPI00396231. IPI00747743. IPI00856087.
RefSeq	NP_775925.1.
UniGene	Hs.518059
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT61. Glycosyltransferase Family 61.
Proteomic databases
PRIDE	Q5NDL2.
Genome annotation databases
Ensembl	ENST00000295571; ENSP00000295571; ENSG00000163378; Homo sapiens. [Genome view] ENST00000383701; ENSP00000373206; ENSG00000163378; Homo sapiens. [Genome view] ENST00000403140; ENSP00000384124; ENSG00000163378; Homo sapiens. [Genome view] ENST00000424374; ENSP00000408090; ENSG00000163378; Homo sapiens. [Genome view] ENST00000426207; ENSP00000404069; ENSG00000163378; Homo sapiens. [Genome view] ENST00000456376; ENSP00000411832; ENSG00000163378; Homo sapiens. [Genome view]
GeneID	285203.
KEGG	hsa:285203.
UCSC	uc003dnk.1. human. uc003dnl.1. human.
Organism-specific databases
CTD	285203.
GeneCards	GC03M069109.
HGNC	HGNC:28526. C3orf64.
HPA	HPA019460.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q5NDL2.
HOVERGEN	Q5NDL2.
OMA	GQRKSPL.
Gene expression databases
Bgee	Q5NDL2.
CleanEx	HS_C3orf64.
Genevestigator	Q5NDL2.
Family and domain databases
InterPro	IPR000886. ER_target_seq_motif. IPR007657. Glycosyltransferase_AER61. [Graphical view]
Pfam	PF04577. DUF563. 1 hit. [Graphical view]
PROSITE	PS00014. ER_TARGET. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	95347.

Entry information

Entry name

AER61_HUMAN

Accession

Primary (citable) accession number: Q5NDL2
Secondary accession number(s): Q6MZY0, Q6P985, Q6ZTV0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	February 1, 2005
Last modified:	November 3, 2009
This is version 35 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.