Q8NFW8 (NEUA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acylneuraminate cytidylyltransferase
EC=2.7.7.43

Alternative name(s):
CMP-N-acetylneuraminic acid synthase
Short name=CMP-NeuNAc synthase

Gene names

Name:

CMAS

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	434 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).
Catalytic activity	CTP + N-acylneuraminate = diphosphate + CMP-N-acylneuraminate. Ref.1
Pathway	Amino-sugar metabolism; N-acetylneuraminate metabolism.
Subunit structure	Homotetramer; the active enzyme is formed by a dimer of dimers.
Subcellular location	Nucleus Ref.1.
Tissue specificity	Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen. Ref.1
Domain	The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity By similarity.
Sequence similarities	Belongs to the CMP-NeuNAc synthase family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Molecular function	Nucleotidyltransferase Transferase
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	lipopolysaccharide biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	N-acylneuraminate cytidylyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NFW8-1)

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: Q8NFW8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     264-434: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 434	434	N-acylneuraminate cytidylyltransferase		PRO_0000213199
Regions
	Motif	15 – 31	17	BC1 motif
	Motif	200 – 206	7	BC2 motif
	Motif	269 – 276	8	BC3 motif
Sites
	Active site	201	1	By similarity
	Binding site	52	1	Substrate By similarity
	Binding site	62	1	Substrate By similarity
	Binding site	111	1	Substrate By similarity
	Binding site	120	1	Substrate By similarity
	Binding site	122	1	Substrate By similarity
	Binding site	143	1	Substrate By similarity
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.6
Natural variations
	Alternative sequence	264 – 434	171	Missing in isoform 2.		VSP_012764
Experimental info
	Sequence conflict	396	1	T → Y in AAM90580. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 1, 2005. Version 2. Checksum: B303B6647EF81A3A	FASTA	434	48,379
	10 20 30 40 50 60 MDSVEKGAAT SVSNPRGRPS RGRPPKLQRN SRGGQGRGVE KPPHLAALIL ARGGSKGIPL 70 80 90 100 110 120 KNIKHLAGVP LIGWVLRAAL DSGAFQSVWV STDHDEIENV AKQFGAQVHR RSSEVSKDSS 130 140 150 160 170 180 TSLDAIIEFL NYHNEVDIVG NIQATSPCLH PTDLQKVAEM IREEGYDSVF SVVRRHQFRW 190 200 210 220 230 240 SEIQKGVREV TEPLNLNPAK RPRRQDWDGE LYENGSFYFA KRHLIEMGYL QGGKMAYYEM 250 260 270 280 290 300 RAEHSVDIDV DIDWPIAEQR VLRYGYFGKE KLKEIKLLVC NIDGCLTNGH IYVSGDQKEI 310 320 330 340 350 360 ISYDVKDAIG ISLLKKSGIE VRLISERACS KQTLSSLKLD CKMEVSVSDK LAVVDEWRKE 370 380 390 400 410 420 MGLCWKEVAY LGNEVSDEEC LKRVGLSGAP ADACSTAQKA VGYICKCNGG RGAIREFAEH 430 ICLLMEKVNN SCQK
	Isoform 2 [UniParc]. Checksum: 5A51E1F0C98AB1DB	FASTA	263	29,561
	10 20 30 40 50 60 MDSVEKGAAT SVSNPRGRPS RGRPPKLQRN SRGGQGRGVE KPPHLAALIL ARGGSKGIPL 70 80 90 100 110 120 KNIKHLAGVP LIGWVLRAAL DSGAFQSVWV STDHDEIENV AKQFGAQVHR RSSEVSKDSS 130 140 150 160 170 180 TSLDAIIEFL NYHNEVDIVG NIQATSPCLH PTDLQKVAEM IREEGYDSVF SVVRRHQFRW 190 200 210 220 230 240 SEIQKGVREV TEPLNLNPAK RPRRQDWDGE LYENGSFYFA KRHLIEMGYL QGGKMAYYEM 250 260 RAEHSVDIDV DIDWPIAEQR VLR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells." Lawrence S.M., Huddleston K.A., Tomiya N., Nguyen N., Lee Y.C., Vann W.F., Coleman T.A., Betenbaugh M.J. Glycoconj. J. 18:205-213(2001) [PubMed: 11602804] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, ENZYME ACTIVITY, TISSUE SPECIFICITY.
[2]	"Human mRNA for CMP-N-acetylneuraminic acid synthase." Bouquin T., Mundy J. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[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] (ISOFORM 1). Tissue: Stomach.
[5]	"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 2). Tissue: Placenta.
[6]	Bienvenut W.V., Lourenco F., Olson M.F. Submitted (AUG-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 1-16; 38-52; 189-200; 307-316 AND 384-399, ACETYLATION AT MET-1, MASS SPECTROMETRY. Tissue: Mammary carcinoma.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF397212 mRNA. Translation: AAM90580.1. AF271388 mRNA. Translation: AAF76203.1. AK022927 mRNA. Translation: BAB14311.1. AL832975 mRNA. Translation: CAH56346.1. BC016609 mRNA. Translation: AAH16609.1.
IPI	IPI00303158. IPI00479958.
RefSeq	NP_061156.1. NM_018686.3.
UniGene	Hs.311346.
3D structure databases
ProteinModelPortal	Q8NFW8.
SMR	Q8NFW8. Positions 42-270, 274-431.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NFW8. 1 interaction.
STRING	Q8NFW8.
Polymorphism databases
DMDM	68059539.
Proteomic databases
PeptideAtlas	Q8NFW8.
PRIDE	Q8NFW8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000229329; ENSP00000229329; ENSG00000111726.
GeneID	55907.
KEGG	hsa:55907.
NMPDR	fig|9606.3.peg.7296.
UCSC	uc001rfm.1. human.
Organism-specific databases
CTD	55907.
GeneCards	GC12P022199.
H-InvDB	HIX0010484.
HGNC	HGNC:18290. CMAS.
HPA	HPA039905.
MIM	603316. gene.
neXtProt	NX_Q8NFW8.
PharmGKB	PA38519.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000004237.
HOGENOM	HBG538449.
HOVERGEN	HBG052605.
InParanoid	Q8NFW8.
OMA	RVLRFGY.
OrthoDB	EOG4W9J3W.
PhylomeDB	Q8NFW8.
Gene expression databases
ArrayExpress	Q8NFW8.
Bgee	Q8NFW8.
CleanEx	HS_CMAS.
Genevestigator	Q8NFW8.
GermOnline	ENSG00000111726. Homo sapiens.
Family and domain databases
InterPro	IPR003329. Cytidylyl_trans. IPR023214. HAD-like_dom. [Graphical view]
Gene3D	G3DSA:3.40.50.1000. HAD-like_dom. 1 hit.
KO	K00983.
Pfam	PF02348. CTP_transf_3. 1 hit. [Graphical view]
SUPFAM	SSF56784. HAD-like_dom. 1 hit.
ProtoNet	Search...
Other
NextBio	61291.
SOURCE	Search...

Entry information

Entry name

NEUA_HUMAN

Accession

Primary (citable) accession number: Q8NFW8
Secondary accession number(s): Q96AX5, Q9NQZ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2005
Last sequence update:	February 1, 2005
Last modified:	January 25, 2012
This is version 79 of the entry and version 2 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.