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Protein

Carnosine synthase 1

Gene

CARNS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Mn2+By similarityNote: 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
  1. Vmax=65.3 nmol/min/mg enzyme toward beta-alanine1 Publication
  2. Vmax=54.7 nmol/min/mg enzyme toward gamma-aminobutyrate1 Publication
  3. Vmax=0.76 nmol/min/mg enzyme toward L-histidine1 Publication
  4. Vmax=0.61 nmol/min/mg enzyme toward L-lysine1 Publication
  5. Vmax=0.28 nmol/min/mg enzyme toward L-ornithine1 Publication
  6. Vmax=0.62 nmol/min/mg enzyme toward N-methylhistidine1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi677Manganese 1By similarity1
Metal bindingi689Manganese 1By similarity1
Metal bindingi689Manganese 2By similarity1
Metal bindingi691Manganese 2By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi542 – 611ATPPROSITE-ProRule annotationAdd BLAST70

GO - Molecular functioni

  • ATPase activity Source: MGI
  • ATP binding Source: UniProtKB-KW
  • carnosine synthase activity Source: UniProtKB
  • homocarnosine synthase activity Source: UniProtKB-EC
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • carnosine biosynthetic process Source: UniProtKB
  • histidine catabolic process Source: Reactome

Keywordsi

Molecular functionLigase
LigandATP-binding, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34422
BRENDAi6.3.2.11 2681
ReactomeiR-HSA-70921 Histidine catabolism

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172508.10
HGNCiHGNC:29268 CARNS1
MIMi613368 gene
neXtProtiNX_A5YM72

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000172508
PharmGKBiPA165543288

Polymorphism and mutation databases

BioMutaiCARNS1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003290361 – 827Carnosine synthase 1Add BLAST827

Proteomic databases

MaxQBiA5YM72
PaxDbiA5YM72
PRIDEiA5YM72

PTM databases

iPTMnetiA5YM72
PhosphoSitePlusiA5YM72
SwissPalmiA5YM72

Expressioni

Gene expression databases

BgeeiENSG00000172508
CleanExiHS_ATPGD1
GenevisibleiA5YM72 HS

Organism-specific databases

HPAiHPA038569

Interactioni

Subunit structurei

Homotetramer.By similarity

Protein-protein interaction databases

BioGridi121624, 1 interactor
IntActiA5YM72, 1 interactor
STRINGi9606.ENSP00000389009

Structurei

3D structure databases

ProteinModelPortaliA5YM72
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini516 – 720ATP-graspPROSITE-ProRule annotationAdd BLAST205

Phylogenomic databases

eggNOGiENOG410IH96 Eukaryota
COG0439 LUCA
GeneTreeiENSGT00390000018662
HOGENOMiHOG000168640
HOVERGENiHBG102303
InParanoidiA5YM72
KOiK14755
OMAiLDCKGSP
OrthoDBiEOG091G051C
PhylomeDBiA5YM72

Family and domain databases

InterProiView protein in InterPro
IPR011761 ATP-grasp
IPR031046 CARNS1
PANTHERiPTHR10578:SF57 PTHR10578:SF57, 1 hit
PROSITEiView protein in PROSITE
PS50975 ATP_GRASP, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MLLCLSPAWL MKVPAPGQPG EAALLVSKAV SFHPGGLTFL DDFVPPRRAT
60 70 80 90 100
YFLAGLGLGP GRGREAAELA RDLTCPTGAS AELARLLEDR LLTRQLLAQQ
110 120 130 140 150
GGVAVPATLA FTYKPPGLLR GGDASLGLRL VELSGKEGQE TLVKEEVEAF
160 170 180 190 200
LRSEALGDIL QVAVKLSGWR WRGRQAWRLH PRAELGAVVD TVLALLEKLE
210 220 230 240 250
EEESVLVEAV YPPAQLPCSD GPSPGPGLAV RICAVVCRTQ GDRPLLSKVV
260 270 280 290 300
CGVGRGDRPL RHHNSLPRTL EVALAQCGLG EEAQVAAVRQ RVKAAAEAAL
310 320 330 340 350
AAVLALEAGL SAEQRGGRRA HTDFLGVDFA LTAAGGVLTP VALELNGGLC
360 370 380 390 400
LEACGALEGL WAAPRLGPAA DEAVAAPLVE TMLRRSARCL MEGKQLLVVG
410 420 430 440 450
AGGVSKKFVW EAARDYGLQL HLVESDPNHF ASQLVQTFIH FDMTEHRRDE
460 470 480 490 500
ENARLLAELV RARGLKLDGC FSYWDDCLVL TALLCQELGL PCSSPAAMRL
510 520 530 540 550
AKQKSLTQLH LLHHHGPPWP APSLHAVPCC PLESEADVER AVHQVPLPGV
560 570 580 590 600
MKLEFGAGAV GVRLVEDAPQ CHEHFSRITR DLQGEADHPG IGLGWGNAML
610 620 630 640 650
LMEFVEGTEH DVDLVLFGGR LLAAFVSDNG PTRLPGFTET AACMPTGLAP
660 670 680 690 700
EQEAQMVQAA FRCCLGCGLL DGVFNVELKL TGAGPRLIEI NPRMGGFYLR
710 720 730 740 750
DWILELYGVD LLLAAVMVAC GLRPALPTRP RARGHLVGVM CLVSQHLQAL
760 770 780 790 800
SSTASRETLQ ALHDRGLLRL NLLEEALVPG EYEEPYCSVA CAGPSPTEAR
810 820
LRLLGLCQGL GIDGPSYPVA HFLSHFK
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA92632 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti23A → T in ABQ59056 (Ref. 1) Curated1
Sequence conflicti576S → P in BAF82627 (PubMed:14702039).Curated1
Sequence conflicti800R → H in BAF82627 (PubMed:14702039).Curated1
Isoform 4 (identifier: A5YM72-4)
Sequence conflicti2L → F in BAG57387 (PubMed:14702039).Curated1
Sequence conflicti395A → V in BAG57387 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04262514P → T. Corresponds to variant dbSNP:rs868167Ensembl.1
Natural variantiVAR_060320498M → L1 PublicationCorresponds to variant dbSNP:rs17853668Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0329251 – 442Missing in isoform 2. 2 PublicationsAdd BLAST442
Alternative sequenceiVSP_0329261M → MCPLAHPAQDLPLLPSQLSL DPSGPEWDCPLGSKDLEEEG PWGGGSGLPPTGCFPGSWRQ DVGLDCKGSPEGAEARAWTV YYYSLLQSCLQQAGLPETQD RGQVPRTGCPGAEVTLCVLG SPSTFLPVLLEGGVQSPGNM in isoform 3. 1 Publication1
Alternative sequenceiVSP_0537351M → MLSLDPSGPEWDCPLGSKDL EEEGPWGGGSGLPPTGCFPG SWRQDVGLDCKGSPEGAEAR AWTVYYYSLLQSCLQQAGLP ETQDRGQVPRTGCPGAEVTL CVLGSPSTFLPVLLEGGVQS PGNM in isoform 4 and isoform 5. 1 Publication1
Alternative sequenceiVSP_053736272 – 297Missing in isoform 4. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_011543491.1, XM_011545189.2 [A5YM72-5]
XP_016873543.1, XM_017018054.1 [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
UCSCiuc009yrp.3 human [A5YM72-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCRNS1_HUMAN
AccessioniPrimary (citable) accession number: A5YM72
Secondary accession number(s): A8K1M3
, B4DFC6, E9PK38, F5H427, Q8N467, Q9P2F3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: November 24, 2009
Last modified: March 28, 2018
This is version 95 of the entry and version 3 of the sequence. See 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. UniProtKB entry view manual
    User manual for the UniProtKB entry view

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