Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

A5YM72 (CRNS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 65. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Carnosine synthase 1

EC=6.3.2.11
Alternative name(s):
ATP-grasp domain-containing protein 1
Gene names
Name:CARNS1
Synonyms:ATPGD1, KIAA1394
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length827 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine. Ref.6

Catalytic activity

ATP + L-histidine + beta-alanine = ADP + phosphate + carnosine.

Cofactor

Binds 2 manganese ions per subunit By similarity.

Subunit structure

Homotetramer By similarity.

Sequence similarities

Contains 1 ATP-grasp domain.

Biophysicochemical properties

Kinetic parameters:

KM=0.09 mM for beta-alanine Ref.6

KM=1.84 mM for gamma-aminobutyrate

KM=0.37 mM for L-histidine

KM=4.67 mM for L-lysine

KM=7.66 mM for L-ornithine

KM=24.7 mM for N-methylhistidine

Vmax=65.3 nmol/min/mg enzyme toward beta-alanine

Vmax=54.7 nmol/min/mg enzyme toward gamma-aminobutyrate

Vmax=0.76 nmol/min/mg enzyme toward L-histidine

Vmax=0.61 nmol/min/mg enzyme toward L-lysine

Vmax=0.28 nmol/min/mg enzyme toward L-ornithine

Vmax=0.62 nmol/min/mg enzyme toward N-methylhistidine

Sequence caution

The sequence ABQ59056.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAA92632.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A5YM72-1)

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: A5YM72-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-442: Missing.
Isoform 3 (identifier: A5YM72-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCPLAHPAQD...EGGVQSPGNM
Note: No experimental confirmation available.
Isoform 4 (identifier: A5YM72-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLSLDPSGPE...EGGVQSPGNM
     272-297: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 827827Carnosine synthase 1
PRO_0000329036

Regions

Domain516 – 720205ATP-grasp
Nucleotide binding542 – 61170ATP By similarity

Sites

Metal binding6771Manganese 1 By similarity
Metal binding6891Manganese 1 By similarity
Metal binding6891Manganese 2 By similarity
Metal binding6911Manganese 2 By similarity

Natural variations

Alternative sequence1 – 442442Missing in isoform 2.
VSP_032925
Alternative sequence11M → MCPLAHPAQDLPLLPSQLSL DPSGPEWDCPLGSKDLEEEG PWGGGSGLPPTGCFPGSWRQ DVGLDCKGSPEGAEARAWTV YYYSLLQSCLQQAGLPETQD RGQVPRTGCPGAEVTLCVLG SPSTFLPVLLEGGVQSPGNM in isoform 3.
VSP_032926
Alternative sequence11M → MLSLDPSGPEWDCPLGSKDL EEEGPWGGGSGLPPTGCFPG SWRQDVGLDCKGSPEGAEAR AWTVYYYSLLQSCLQQAGLP ETQDRGQVPRTGCPGAEVTL CVLGSPSTFLPVLLEGGVQS PGNM in isoform 4.
VSP_053735
Alternative sequence272 – 29726Missing in isoform 4.
VSP_053736
Natural variant141P → T.
Corresponds to variant rs868167 [ dbSNP | Ensembl ].
VAR_042625
Natural variant4981M → L. Ref.5
Corresponds to variant rs17853668 [ dbSNP | Ensembl ].
VAR_060320

Experimental info

Sequence conflict231A → T in ABQ59056. Ref.1
Sequence conflict5761S → P in BAF82627. Ref.3
Sequence conflict8001R → H in BAF82627. Ref.3
Isoform 4:
Sequence conflict21L → F in BAG57387. Ref.3
Sequence conflict3951A → V in BAG57387. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 3.
Checksum: 18AEFC6A5299B8EF

FASTA82788,484
        10         20         30         40         50         60 
MLLCLSPAWL MKVPAPGQPG EAALLVSKAV SFHPGGLTFL DDFVPPRRAT YFLAGLGLGP 

        70         80         90        100        110        120 
GRGREAAELA RDLTCPTGAS AELARLLEDR LLTRQLLAQQ GGVAVPATLA FTYKPPGLLR 

       130        140        150        160        170        180 
GGDASLGLRL VELSGKEGQE TLVKEEVEAF LRSEALGDIL QVAVKLSGWR WRGRQAWRLH 

       190        200        210        220        230        240 
PRAELGAVVD TVLALLEKLE EEESVLVEAV YPPAQLPCSD GPSPGPGLAV RICAVVCRTQ 

       250        260        270        280        290        300 
GDRPLLSKVV CGVGRGDRPL RHHNSLPRTL EVALAQCGLG EEAQVAAVRQ RVKAAAEAAL 

       310        320        330        340        350        360 
AAVLALEAGL SAEQRGGRRA HTDFLGVDFA LTAAGGVLTP VALELNGGLC LEACGALEGL 

       370        380        390        400        410        420 
WAAPRLGPAA DEAVAAPLVE TMLRRSARCL MEGKQLLVVG AGGVSKKFVW EAARDYGLQL 

       430        440        450        460        470        480 
HLVESDPNHF ASQLVQTFIH FDMTEHRRDE ENARLLAELV RARGLKLDGC FSYWDDCLVL 

       490        500        510        520        530        540 
TALLCQELGL PCSSPAAMRL AKQKSLTQLH LLHHHGPPWP APSLHAVPCC PLESEADVER 

       550        560        570        580        590        600 
AVHQVPLPGV MKLEFGAGAV GVRLVEDAPQ CHEHFSRITR DLQGEADHPG IGLGWGNAML 

       610        620        630        640        650        660 
LMEFVEGTEH DVDLVLFGGR LLAAFVSDNG PTRLPGFTET AACMPTGLAP EQEAQMVQAA 

       670        680        690        700        710        720 
FRCCLGCGLL DGVFNVELKL TGAGPRLIEI NPRMGGFYLR DWILELYGVD LLLAAVMVAC 

       730        740        750        760        770        780 
GLRPALPTRP RARGHLVGVM CLVSQHLQAL SSTASRETLQ ALHDRGLLRL NLLEEALVPG 

       790        800        810        820 
EYEEPYCSVA CAGPSPTEAR LRLLGLCQGL GIDGPSYPVA HFLSHFK 

« Hide

Isoform 2 [UniParc].

Checksum: 3FC2B6761C4B9192
Show »

FASTA38541,773
Isoform 3 [UniParc].

Checksum: 24A529E929356016
Show »

FASTA966103,002
Isoform 4 [UniParc].

Checksum: 188095CB41F4F85C
Show »

FASTA92498,699

References

« Hide 'large scale' references
[1]Schupp I.
Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[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] (ISOFORMS 2 AND 4).
Tissue: Cerebellum and Hippocampus.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-498.
Tissue: Kidney.
[6]"Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1)."
Drozak J., Veiga-da-Cunha M., Vertommen D., Stroobant V., Van Schaftingen E.
J. Biol. Chem. 285:9346-9356(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EF560746 mRNA. Translation: ABQ59056.1. Different initiation.
AB037815 mRNA. Translation: BAA92632.1. Different initiation.
AK289938 mRNA. Translation: BAF82627.1.
AK294035 mRNA. Translation: BAG57387.1.
AP003419 Genomic DNA. No translation available.
BC036557 mRNA. Translation: AAH36557.1.
RefSeqNP_001159694.1. NM_001166222.1.
NP_065862.1. NM_020811.1.
XP_005274182.1. XM_005274125.1.
UniGeneHs.502982.

3D structure databases

ProteinModelPortalA5YM72.
SMRA5YM72. Positions 537-720.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121624. 1 interaction.
IntActA5YM72. 1 interaction.

PTM databases

PhosphoSiteA5YM72.

Proteomic databases

PaxDbA5YM72.
PRIDEA5YM72.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307823; ENSP00000308268; ENSG00000172508. [A5YM72-1]
ENST00000423745; ENSP00000401519; ENSG00000172508. [A5YM72-1]
ENST00000531040; ENSP00000431670; ENSG00000172508. [A5YM72-4]
GeneID57571.
KEGGhsa:57571.
UCSCuc001olc.4. human. [A5YM72-3]
uc009yrp.3. human. [A5YM72-1]
uc021qmh.1. human. [A5YM72-2]

Organism-specific databases

CTD57571.
GeneCardsGC11P067183.
H-InvDBHIX0201593.
HGNCHGNC:29268. CARNS1.
HPAHPA038569.
HPA038570.
MIM613368. gene.
neXtProtNX_A5YM72.
PharmGKBPA165543288.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0439.
HOGENOMHOG000168640.
HOVERGENHBG102303.
InParanoidA5YM72.
KOK14755.
PhylomeDBA5YM72.

Gene expression databases

ArrayExpressA5YM72.
BgeeA5YM72.
CleanExHS_ATPGD1.
GenevestigatorA5YM72.

Family and domain databases

Gene3D3.30.470.20. 2 hits.
InterProIPR011761. ATP-grasp.
IPR013816. ATP_grasp_subdomain_2.
[Graphical view]
PROSITEPS50975. ATP_GRASP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57571.
NextBio35502781.
PROA5YM72.
SOURCESearch...

Entry information

Entry nameCRNS1_HUMAN
AccessionPrimary (citable) accession number: A5YM72
Secondary accession number(s): A8K1M3 expand/collapse secondary AC list , B4DFC6, E9PK38, Q8N467, Q9P2F3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: November 24, 2009
Last modified: April 16, 2014
This is version 65 of the entry and version 3 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 11

Human chromosome 11: entries, gene names and cross-references to MIM