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A5YM72

- CRNS1_HUMAN

UniProt

A5YM72 - CRNS1_HUMAN

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Protein

Carnosine synthase 1

Gene
CARNS1, ATPGD1, KIAA1394
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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-aminobutyrate
  3. KM=0.37 mM for L-histidine
  4. KM=4.67 mM for L-lysine
  5. KM=7.66 mM for L-ornithine
  6. 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

Sites

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi542 – 61170ATP By similarityAdd
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
Complete GO annotation...

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini516 – 720205ATP-graspAdd
BLAST

Sequence similaritiesi

Contains 1 ATP-grasp domain.

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.

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.

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. VSP_032925Add
BLAST
Alternative sequencei1 – 11M → MCPLAHPAQDLPLLPSQLSL DPSGPEWDCPLGSKDLEEEG PWGGGSGLPPTGCFPGSWRQ DVGLDCKGSPEGAEARAWTV YYYSLLQSCLQQAGLPETQD RGQVPRTGCPGAEVTLCVLG SPSTFLPVLLEGGVQSPGNM in isoform 3. VSP_032926
Alternative sequencei1 – 11M → MLSLDPSGPEWDCPLGSKDL EEEGPWGGGSGLPPTGCFPG SWRQDVGLDCKGSPEGAEAR AWTVYYYSLLQSCLQQAGLP ETQDRGQVPRTGCPGAEVTL CVLGSPSTFLPVLLEGGVQS PGNM in isoform 4 and isoform 5. VSP_053735
Alternative sequencei272 – 29726Missing in isoform 4. VSP_053736Add
BLAST

Sequence conflict

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

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]
ENST00000423745; ENSP00000401519; ENSG00000172508. [A5YM72-1]
ENST00000445895; ENSP00000389009; ENSG00000172508.
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 ]
ENST00000423745 ; ENSP00000401519 ; ENSG00000172508 . [A5YM72-1 ]
ENST00000445895 ; ENSP00000389009 ; ENSG00000172508 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 68 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