Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

A5YM72

- CRNS1_HUMAN

UniProt

A5YM72 - CRNS1_HUMAN

Protein

Carnosine synthase 1

Gene

CARNS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 3 (24 Nov 2009)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.1 Publication

    Catalytic activityi

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

    Cofactori

    Binds 2 manganese ions per subunit.By similarity

    Kineticsi

    1. KM=0.09 mM for beta-alanine1 Publication
    2. KM=1.84 mM for gamma-aminobutyrate1 Publication
    3. KM=0.37 mM for L-histidine1 Publication
    4. KM=4.67 mM for L-lysine1 Publication
    5. KM=7.66 mM for L-ornithine1 Publication
    6. KM=24.7 mM for N-methylhistidine1 Publication

    Vmax=65.3 nmol/min/mg enzyme toward beta-alanine1 Publication

    Vmax=54.7 nmol/min/mg enzyme toward gamma-aminobutyrate1 Publication

    Vmax=0.76 nmol/min/mg enzyme toward L-histidine1 Publication

    Vmax=0.61 nmol/min/mg enzyme toward L-lysine1 Publication

    Vmax=0.28 nmol/min/mg enzyme toward L-ornithine1 Publication

    Vmax=0.62 nmol/min/mg enzyme toward N-methylhistidine1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi677 – 6771Manganese 1By similarity
    Metal bindingi689 – 6891Manganese 1By similarity
    Metal bindingi689 – 6891Manganese 2By similarity
    Metal bindingi691 – 6911Manganese 2By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi542 – 61170ATPPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. ATPase activity Source: MGI
    2. ATP binding Source: UniProtKB-KW
    3. carnosine synthase activity Source: UniProtKB
    4. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. carnosine biosynthetic process Source: UniProtKB

    Keywords - Molecular functioni

    Ligase

    Keywords - Ligandi

    ATP-binding, Manganese, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:MONOMER66-34422.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Carnosine synthase 1 (EC:6.3.2.11)
    Alternative name(s):
    ATP-grasp domain-containing protein 1
    Gene namesi
    Name:CARNS1
    Synonyms:ATPGD1, KIAA1394
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:29268. CARNS1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165543288.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 827827Carnosine synthase 1PRO_0000329036Add
    BLAST

    Proteomic databases

    MaxQBiA5YM72.
    PaxDbiA5YM72.
    PRIDEiA5YM72.

    PTM databases

    PhosphoSiteiA5YM72.

    Expressioni

    Gene expression databases

    ArrayExpressiA5YM72.
    BgeeiA5YM72.
    CleanExiHS_ATPGD1.
    GenevestigatoriA5YM72.

    Organism-specific databases

    HPAiHPA038569.
    HPA038570.

    Interactioni

    Subunit structurei

    Homotetramer.By similarity

    Protein-protein interaction databases

    BioGridi121624. 1 interaction.
    IntActiA5YM72. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliA5YM72.
    SMRiA5YM72. Positions 537-720.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini516 – 720205ATP-graspPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 ATP-grasp domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0439.
    HOGENOMiHOG000168640.
    HOVERGENiHBG102303.
    InParanoidiA5YM72.
    KOiK14755.
    PhylomeDBiA5YM72.

    Family and domain databases

    Gene3Di3.30.470.20. 2 hits.
    InterProiIPR011761. ATP-grasp.
    IPR013816. ATP_grasp_subdomain_2.
    [Graphical view]
    PROSITEiPS50975. ATP_GRASP. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A5YM72-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MLLCLSPAWL MKVPAPGQPG EAALLVSKAV SFHPGGLTFL DDFVPPRRAT    50
    YFLAGLGLGP GRGREAAELA RDLTCPTGAS AELARLLEDR LLTRQLLAQQ 100
    GGVAVPATLA FTYKPPGLLR GGDASLGLRL VELSGKEGQE TLVKEEVEAF 150
    LRSEALGDIL QVAVKLSGWR WRGRQAWRLH PRAELGAVVD TVLALLEKLE 200
    EEESVLVEAV YPPAQLPCSD GPSPGPGLAV RICAVVCRTQ GDRPLLSKVV 250
    CGVGRGDRPL RHHNSLPRTL EVALAQCGLG EEAQVAAVRQ RVKAAAEAAL 300
    AAVLALEAGL SAEQRGGRRA HTDFLGVDFA LTAAGGVLTP VALELNGGLC 350
    LEACGALEGL WAAPRLGPAA DEAVAAPLVE TMLRRSARCL MEGKQLLVVG 400
    AGGVSKKFVW EAARDYGLQL HLVESDPNHF ASQLVQTFIH FDMTEHRRDE 450
    ENARLLAELV RARGLKLDGC FSYWDDCLVL TALLCQELGL PCSSPAAMRL 500
    AKQKSLTQLH LLHHHGPPWP APSLHAVPCC PLESEADVER AVHQVPLPGV 550
    MKLEFGAGAV GVRLVEDAPQ CHEHFSRITR DLQGEADHPG IGLGWGNAML 600
    LMEFVEGTEH DVDLVLFGGR LLAAFVSDNG PTRLPGFTET AACMPTGLAP 650
    EQEAQMVQAA FRCCLGCGLL DGVFNVELKL TGAGPRLIEI NPRMGGFYLR 700
    DWILELYGVD LLLAAVMVAC GLRPALPTRP RARGHLVGVM CLVSQHLQAL 750
    SSTASRETLQ ALHDRGLLRL NLLEEALVPG EYEEPYCSVA CAGPSPTEAR 800
    LRLLGLCQGL GIDGPSYPVA HFLSHFK 827
    Length:827
    Mass (Da):88,484
    Last modified:November 24, 2009 - v3
    Checksum:i18AEFC6A5299B8EF
    GO
    Isoform 2 (identifier: A5YM72-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-442: Missing.

    Show »
    Length:385
    Mass (Da):41,773
    Checksum:i3FC2B6761C4B9192
    GO
    Isoform 3 (identifier: A5YM72-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MCPLAHPAQD...EGGVQSPGNM

    Note: No experimental confirmation available.

    Show »
    Length:966
    Mass (Da):103,002
    Checksum:i24A529E929356016
    GO
    Isoform 4 (identifier: A5YM72-4) [UniParc]FASTAAdd to Basket

    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.Curated

    Show »
    Length:924
    Mass (Da):98,699
    Checksum:i188095CB41F4F85C
    GO
    Isoform 5 (identifier: A5YM72-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MLSLDPSGPE...EGGVQSPGNM

    Note: No experimental confirmation available.

    Show »
    Length:950
    Mass (Da):101,320
    Checksum:iF9DE9392066303D8
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti23 – 231A → T in ABQ59056. 1 PublicationCurated
    Sequence conflicti576 – 5761S → P in BAF82627. (PubMed:14702039)Curated
    Sequence conflicti800 – 8001R → H in BAF82627. (PubMed:14702039)Curated
    Isoform 4 (identifier: A5YM72-4)
    Sequence conflicti2 – 21L → F in BAG57387. (PubMed:14702039)Curated
    Sequence conflicti395 – 3951A → V in BAG57387. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141P → T.
    Corresponds to variant rs868167 [ dbSNP | Ensembl ].
    VAR_042625
    Natural varianti498 – 4981M → L.1 Publication
    Corresponds to variant rs17853668 [ dbSNP | Ensembl ].
    VAR_060320

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 442442Missing in isoform 2. 2 PublicationsVSP_032925Add
    BLAST
    Alternative sequencei1 – 11M → MCPLAHPAQDLPLLPSQLSL DPSGPEWDCPLGSKDLEEEG PWGGGSGLPPTGCFPGSWRQ DVGLDCKGSPEGAEARAWTV YYYSLLQSCLQQAGLPETQD RGQVPRTGCPGAEVTLCVLG SPSTFLPVLLEGGVQSPGNM in isoform 3. 1 PublicationVSP_032926
    Alternative sequencei1 – 11M → MLSLDPSGPEWDCPLGSKDL EEEGPWGGGSGLPPTGCFPG SWRQDVGLDCKGSPEGAEAR AWTVYYYSLLQSCLQQAGLP ETQDRGQVPRTGCPGAEVTL CVLGSPSTFLPVLLEGGVQS PGNM in isoform 4 and isoform 5. 1 PublicationVSP_053735
    Alternative sequencei272 – 29726Missing in isoform 4. 1 PublicationVSP_053736Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS44658.1. [A5YM72-1]
    CCDS53667.1. [A5YM72-5]
    RefSeqiNP_001159694.1. NM_001166222.1. [A5YM72-5]
    NP_065862.1. NM_020811.1. [A5YM72-1]
    XP_005274182.1. XM_005274125.1. [A5YM72-3]
    UniGeneiHs.502982.

    Genome annotation databases

    EnsembliENST00000307823; ENSP00000308268; ENSG00000172508. [A5YM72-1]
    ENST00000445895; ENSP00000389009; ENSG00000172508. [A5YM72-5]
    ENST00000531040; ENSP00000431670; ENSG00000172508. [A5YM72-4]
    GeneIDi57571.
    KEGGihsa:57571.
    UCSCiuc001olc.4. human. [A5YM72-3]
    uc009yrp.3. human. [A5YM72-1]
    uc021qmh.1. human. [A5YM72-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS44658.1. [A5YM72-1 ]
    CCDS53667.1. [A5YM72-5 ]
    RefSeqi NP_001159694.1. NM_001166222.1. [A5YM72-5 ]
    NP_065862.1. NM_020811.1. [A5YM72-1 ]
    XP_005274182.1. XM_005274125.1. [A5YM72-3 ]
    UniGenei Hs.502982.

    3D structure databases

    ProteinModelPortali A5YM72.
    SMRi A5YM72. Positions 537-720.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121624. 1 interaction.
    IntActi A5YM72. 1 interaction.

    PTM databases

    PhosphoSitei A5YM72.

    Proteomic databases

    MaxQBi A5YM72.
    PaxDbi A5YM72.
    PRIDEi A5YM72.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307823 ; ENSP00000308268 ; ENSG00000172508 . [A5YM72-1 ]
    ENST00000445895 ; ENSP00000389009 ; ENSG00000172508 . [A5YM72-5 ]
    ENST00000531040 ; ENSP00000431670 ; ENSG00000172508 . [A5YM72-4 ]
    GeneIDi 57571.
    KEGGi hsa:57571.
    UCSCi uc001olc.4. human. [A5YM72-3 ]
    uc009yrp.3. human. [A5YM72-1 ]
    uc021qmh.1. human. [A5YM72-2 ]

    Organism-specific databases

    CTDi 57571.
    GeneCardsi GC11P067183.
    H-InvDB HIX0201593.
    HGNCi HGNC:29268. CARNS1.
    HPAi HPA038569.
    HPA038570.
    MIMi 613368. gene.
    neXtProti NX_A5YM72.
    PharmGKBi PA165543288.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0439.
    HOGENOMi HOG000168640.
    HOVERGENi HBG102303.
    InParanoidi A5YM72.
    KOi K14755.
    PhylomeDBi A5YM72.

    Enzyme and pathway databases

    BioCyci MetaCyc:MONOMER66-34422.

    Miscellaneous databases

    GenomeRNAii 57571.
    NextBioi 35502781.
    PROi A5YM72.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A5YM72.
    Bgeei A5YM72.
    CleanExi HS_ATPGD1.
    Genevestigatori A5YM72.

    Family and domain databases

    Gene3Di 3.30.470.20. 2 hits.
    InterProi IPR011761. ATP-grasp.
    IPR013816. ATP_grasp_subdomain_2.
    [Graphical view ]
    PROSITEi PS50975. ATP_GRASP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.

    Entry informationi

    Entry nameiCRNS1_HUMAN
    AccessioniPrimary (citable) accession number: A5YM72
    Secondary accession number(s): A8K1M3
    , B4DFC6, E9PK38, F5H427, Q8N467, Q9P2F3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 8, 2008
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 69 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3