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UniProtKB - Q5VV42 (CDKAL_HUMAN)

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Protein

Threonylcarbamoyladenosine tRNA methylthiotransferase

Gene

CDKAL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t6A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms2t6A) at position 37 in tRNAs that read codons beginning with adenine.1 Publication

Catalytic activityi

N6-L-threonylcarbamoyladenine(37) in tRNA + sulfur-(sulfur carrier) + 2 S-adenosyl-L-methionine + reduced electron acceptor = 2-methylthio-N6-L-threonylcarbamoyladenine(37) in tRNA + S-adenosyl-L-homocysteine + (sulfur carrier) + L-methionine + 5'-deoxyadenosine + electron acceptor.1 Publication

Cofactori

[4Fe-4S] clusterPROSITE-ProRule annotationNote: Binds 2 [4Fe-4S] clusters. One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.PROSITE-ProRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi73Iron-sulfur (4Fe-4S)PROSITE-ProRule annotation1
Metal bindingi109Iron-sulfur (4Fe-4S)PROSITE-ProRule annotation1
Metal bindingi138Iron-sulfur (4Fe-4S)PROSITE-ProRule annotation1
Metal bindingi214Iron-sulfur (4Fe-4S-S-AdoMet)PROSITE-ProRule annotation1
Metal bindingi218Iron-sulfur (4Fe-4S-S-AdoMet)PROSITE-ProRule annotation1
Metal bindingi221Iron-sulfur (4Fe-4S-S-AdoMet)PROSITE-ProRule annotation1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTransferase
Biological processtRNA processing
Ligand4Fe-4S, Iron, Iron-sulfur, Metal-binding, S-adenosyl-L-methionine

Enzyme and pathway databases

ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
Threonylcarbamoyladenosine tRNA methylthiotransferase (EC:2.8.4.51 Publication)
Alternative name(s):
CDK5 regulatory subunit-associated protein 1-like 1
tRNA-t(6)A37 methylthiotransferase
Gene namesi
Name:CDKAL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000145996.11
HGNCiHGNC:21050 CDKAL1
MIMi611259 gene
neXtProtiNX_Q5VV42

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei556 – 578HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Diabetes mellitus, non-insulin-dependent (NIDDM)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNETi54901
MalaCardsiCDKAL1
MIMi125853 phenotype
OpenTargetsiENSG00000145996
PharmGKBiPA134871999

Polymorphism and mutation databases

BioMutaiCDKAL1
DMDMi74747199

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002986701 – 579Threonylcarbamoyladenosine tRNA methylthiotransferaseAdd BLAST579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei53PhosphoserineCombined sources1
Modified residuei122PhosphoserineCombined sources1
Modified residuei499PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5VV42
MaxQBiQ5VV42
PaxDbiQ5VV42
PeptideAtlasiQ5VV42
PRIDEiQ5VV42
ProteomicsDBi65438
65439 [Q5VV42-2]
65440 [Q5VV42-3]

PTM databases

iPTMnetiQ5VV42
PhosphoSitePlusiQ5VV42
SwissPalmiQ5VV42

Expressioni

Tissue specificityi

Expressed in pancreatic islets.1 Publication

Gene expression databases

BgeeiENSG00000145996
CleanExiHS_CDKAL1
GenevisibleiQ5VV42 HS

Organism-specific databases

HPAiHPA057474

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
LCKP062393EBI-10194801,EBI-1348

Protein-protein interaction databases

BioGridi120247, 25 interactors
IntActiQ5VV42, 22 interactors
MINTiQ5VV42
STRINGi9606.ENSP00000274695

Structurei

3D structure databases

ProteinModelPortaliQ5VV42
SMRiQ5VV42
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini64 – 172MTTase N-terminalPROSITE-ProRule annotationAdd BLAST109
Domaini431 – 493TRAMPROSITE-ProRule annotationAdd BLAST63

Sequence similaritiesi

Belongs to the methylthiotransferase family. CDKAL1 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4355 Eukaryota
COG0621 LUCA
GeneTreeiENSGT00530000063447
HOGENOMiHOG000224768
HOVERGENiHBG097712
InParanoidiQ5VV42
KOiK15865
OMAiCLSERYK
OrthoDBiEOG091G04Y8
PhylomeDBiQ5VV42
TreeFamiTF317476

Family and domain databases

Gene3Di3.40.50.12160, 1 hit
3.80.30.20, 1 hit
InterProiView protein in InterPro
IPR006638 Elp3/MiaB/NifB
IPR005839 Methylthiotransferase
IPR020612 Methylthiotransferase_CS
IPR013848 Methylthiotransferase_N
IPR038135 Methylthiotransferase_N_sf
IPR006466 MiaB-like_B
IPR007197 rSAM
IPR023404 rSAM_horseshoe
IPR002792 TRAM_dom
PfamiView protein in Pfam
PF04055 Radical_SAM, 1 hit
PF01938 TRAM, 1 hit
PF00919 UPF0004, 1 hit
SFLDiSFLDG01061 methylthiotransferase, 1 hit
SFLDS00029 Radical_SAM, 1 hit
SMARTiView protein in SMART
SM00729 Elp3, 1 hit
TIGRFAMsiTIGR01578 MiaB-like-B, 1 hit
TIGR00089 TIGR00089, 1 hit
PROSITEiView protein in PROSITE
PS51449 MTTASE_N, 1 hit
PS01278 MTTASE_RADICAL, 1 hit
PS50926 TRAM, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5VV42-1) [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
MPSASCDTLL DDIEDIVSQE DSKPQDRHFV RKDVVPKVRR RNTQKYLQEE 
        60         70         80         90        100
ENSPPSDSTI PGIQKIWIRT WGCSHNNSDG EYMAGQLAAY GYKITENASD 
       110        120        130        140        150
ADLWLLNSCT VKNPAEDHFR NSIKKAQEEN KKIVLAGCVP QAQPRQDYLK 
       160        170        180        190        200
GLSIIGVQQI DRVVEVVEET IKGHSVRLLG QKKDNGRRLG GARLDLPKIR 
       210        220        230        240        250
KNPLIEIISI NTGCLNACTY CKTKHARGNL ASYPIDELVD RAKQSFQEGV 
       260        270        280        290        300
CEIWLTSEDT GAYGRDIGTN LPTLLWKLVE VIPEGAMLRL GMTNPPYILE 
       310        320        330        340        350
HLEEMAKILN HPRVYAFLHI PVQSASDSVL MEMKREYCVA DFKRVVDFLK 
       360        370        380        390        400
EKVPGITIAT DIICGFPGET DQDFQETVKL VEEYKFPSLF INQFYPRPGT 
       410        420        430        440        450
PAAKMEQVPA QVKKQRTKDL SRVFHSYSPY DHKIGERQQV LVTEESFDSK 
       460        470        480        490        500
FYVAHNQFYE QVLVPKNPAF MGKMVEVDIY ESGKHFMKGQ PVSDAKVYTP 
       510        520        530        540        550
SISKPLAKGE VSGLTKDFRN GLGNQLSSGS HTSAASQCDS ASSRMVLPMP 
       560        570 
RLHQDCALRM SVGLALLGLL FAFFVKVYN
Length:579
Mass (Da):65,111
Last modified:December 7, 2004 - v1
Checksum:i90818A8A0A19FD1C
GO
Isoform 2 (identifier: Q5VV42-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MPSASCDTLL...GQLAAYGYKI → MLSRRYEGEIPKNICKRKKTVHQV
     413-433: Missing.

Show »
Length:488
Mass (Da):54,667
Checksum:i8671593E9CE5F149
GO
Isoform 3 (identifier: Q5VV42-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-97: EN → GE
     98-579: Missing.

Show »
Length:97
Mass (Da):11,043
Checksum:i1558DE995C15E75F
GO

Sequence cautioni

The sequence BAC87494 differs from that shown. Reason: Frameshift at position 575.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti211N → S in BAA91102 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052705484K → R. Corresponds to variant dbSNP:rs9460608Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0274501 – 94MPSAS…YGYKI → MLSRRYEGEIPKNICKRKKT VHQV in isoform 2. 1 PublicationAdd BLAST94
Alternative sequenceiVSP_02745196 – 97EN → GE in isoform 3. 1 Publication2
Alternative sequenceiVSP_02745298 – 579Missing in isoform 3. 1 PublicationAdd BLAST482
Alternative sequenceiVSP_027453413 – 433Missing in isoform 2. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000349 mRNA Translation: BAA91102.1
AK128546 mRNA Translation: BAC87494.1 Frameshift.
AK291735 mRNA Translation: BAF84424.1
AL022717 Genomic DNA No translation available.
AL033521 Genomic DNA No translation available.
AL035090 Genomic DNA No translation available.
AL451080 Genomic DNA No translation available.
AL512405 Genomic DNA No translation available.
AL513015 Genomic DNA No translation available.
AL513188 Genomic DNA No translation available.
AL513549 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55426.1
BC064145 mRNA Translation: AAH64145.1
BC121020 mRNA Translation: AAI21021.1
BC121021 mRNA Translation: AAI21022.1
CCDSiCCDS4546.1 [Q5VV42-1]
RefSeqiNP_060244.2, NM_017774.3 [Q5VV42-1]
UniGeneiHs.657604
Hs.672504

Genome annotation databases

EnsembliENST00000274695; ENSP00000274695; ENSG00000145996 [Q5VV42-1]
ENST00000378610; ENSP00000367873; ENSG00000145996 [Q5VV42-1]
ENST00000613575; ENSP00000481755; ENSG00000145996 [Q5VV42-3]
GeneIDi54901
KEGGihsa:54901
UCSCiuc003ndb.2 human [Q5VV42-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCDKAL_HUMAN
AccessioniPrimary (citable) accession number: Q5VV42
Secondary accession number(s): A8K6S0
, Q6P385, Q6ZR27, Q9NXB3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: December 7, 2004
Last modified: June 20, 2018
This is version 133 of the entry and version 1 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 6
    Human chromosome 6: 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

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