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Q9BTE6

- AASD1_HUMAN

UniProt

Q9BTE6 - AASD1_HUMAN

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Protein
Alanyl-tRNA editing protein Aarsd1
Gene
AARSD1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) By similarity.

Cofactori

Binds 1 zinc ion per subunit Reviewed prediction.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi109 – 1091Zinc Reviewed prediction
Metal bindingi113 – 1131Zinc Reviewed prediction
Metal bindingi209 – 2091Zinc Reviewed prediction
Metal bindingi213 – 2131Zinc Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: InterPro
  2. Ser-tRNA(Ala) hydrolase activity Source: Ensembl
  3. alanine-tRNA ligase activity Source: InterPro
  4. metal ion binding Source: UniProtKB-KW
  5. nucleic acid binding Source: InterPro

GO - Biological processi

  1. alanyl-tRNA aminoacylation Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Alanyl-tRNA editing protein Aarsd1
Alternative name(s):
Alanyl-tRNA synthetase domain-containing protein 1
Gene namesi
Name:AARSD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:28417. AARSD1.
HGNC:43946. PTGES3L-AARSD1.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670464.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 412412Alanyl-tRNA editing protein Aarsd1
PRO_0000277465Add
BLAST

Proteomic databases

MaxQBiQ9BTE6.
PaxDbiQ9BTE6.
PRIDEiQ9BTE6.

2D gel databases

REPRODUCTION-2DPAGEIPI00827636.

Expressioni

Gene expression databases

BgeeiQ9BTE6.
CleanExiHS_AARSD1.
GenevestigatoriQ9BTE6.

Organism-specific databases

HPAiHPA021408.
HPA022869.
HPA023714.

Interactioni

Protein-protein interaction databases

BioGridi123290. 33 interactions.
IntActiQ9BTE6. 4 interactions.
STRINGi9606.ENSP00000386621.

Structurei

3D structure databases

ProteinModelPortaliQ9BTE6.
SMRiQ9BTE6. Positions 8-247.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG2872.
HOGENOMiHOG000230967.
HOVERGENiHBG080017.
InParanoidiQ9BTE6.
KOiK07050.
OMAiGDNEFMN.
OrthoDBiEOG71RXJT.
PhylomeDBiQ9BTE6.
TreeFamiTF323735.

Family and domain databases

InterProiIPR018165. Ala-tRNA-synth_IIc_core.
IPR018164. Ala-tRNA-synth_IIc_N.
IPR018163. Thr/Ala-tRNA-synth_IIc_edit.
IPR009000. Transl_B-barrel.
IPR012947. tRNA_SAD.
[Graphical view]
PfamiPF01411. tRNA-synt_2c. 1 hit.
PF07973. tRNA_SAD. 1 hit.
[Graphical view]
SMARTiSM00863. tRNA_SAD. 1 hit.
[Graphical view]
SUPFAMiSSF50447. SSF50447. 1 hit.
SSF55186. SSF55186. 1 hit.
PROSITEiPS50860. AA_TRNA_LIGASE_II_ALA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BTE6-1) [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

MAFWCQRDSY AREFTTTVVS CCPAELQTEG SNGKKEVLSG FQVVLEDTVL    50
FPEGGGQPDD RGTINDISVL RVTRRGEQAD HFTQTPLDPG SQVLVRVDWE 100
RRFDHMQQHS GQHLITAVAD HLFKLKTTSW ELGRFRSAIE LDTPSMTAEQ 150
VAAIEQSVNE KIRDRLPVNV RELSLDDPEV EQVSGRGLPD DHAGPIRVVN 200
IEGVDSNMCC GTHVSNLSDL QVIKILGTEK GKKNRTNLIF LSGNRVLKWM 250
ERSHGTEKAL TALLKCGAED HVEAVKKLQN STKILQKNNL NLLRDLAVHI 300
AHSLRNSPDW GGVVILHRKE GDSEFMNIIA NEIGSEETLL FLTVGDEKGG 350
GLFLLAGPPA SVETLGPRVA EVLEGKGAGK KGRFQGKATK MSRRMEAQAL 400
LQDYISTQSA KE 412
Length:412
Mass (Da):45,480
Last modified:February 6, 2007 - v2
Checksum:i2E14B6274C6EF897
GO
Isoform 2 (identifier: Q9BTE6-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAFWCQRDSYARE → MEFCVEDSTD...RPPPAMDDLD

Note: Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available.

Show »
Length:525
Mass (Da):58,753
Checksum:i04F376DFD308BC68
GO
Isoform 3 (identifier: Q9BTE6-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAFWCQRDSYARE → MFSLPLNCSP...RPPPAMDDLD

Note: Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available.

Show »
Length:586
Mass (Da):65,702
Checksum:iBA9D4A890AA69180
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1313MAFWC…SYARE → MEFCVEDSTDVHVLIEDHRI VFSCKNADGVELYNEIEFYA KVNSKDSQDKRSSRSITCFV RKWKEKVAWPRLTKEDIKPV WLSVDFDNWRDWEGDEEMEL AHVEHYAELLKKVSTKRPPP AMDDLD in isoform 2.
VSP_023014Add
BLAST
Alternative sequencei1 – 1313MAFWC…SYARE → MFSLPLNCSPDHIRRGSCWG RPQDLKIAAPAWNSKCHPGA GAAMARQHARTLWYDRPRYV FMEFCVEDSTDVHVLIEDHR IVFSCKNADGVELYNEIEFY AKVNSKDSQDKRSSRSITCF VRKWKEKVAWPRLTKEDIKP VWLSVDFDNWRDWEGDEEME LAHVEHYAELLKKVSTKRPP PAMDDLD in isoform 3.
VSP_043142Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK295447 mRNA. Translation: BAG58385.1.
CR608238 mRNA. No translation available.
AC055866 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60903.1.
BC004172 mRNA. Translation: AAH04172.1.
BC019324 mRNA. Translation: AAH19324.1.
CCDSiCCDS58552.1. [Q9BTE6-1]
RefSeqiNP_001129514.2. NM_001136042.2. [Q9BTE6-3]
NP_001248363.1. NM_001261434.1. [Q9BTE6-1]
NP_079543.1. NM_025267.3. [Q9BTE6-2]
UniGeneiHs.317403.

Genome annotation databases

EnsembliENST00000360221; ENSP00000353355; ENSG00000108825. [Q9BTE6-2]
ENST00000409399; ENSP00000386621; ENSG00000108825. [Q9BTE6-3]
ENST00000421990; ENSP00000409924; ENSG00000108825. [Q9BTE6-3]
ENST00000427569; ENSP00000400870; ENSG00000266967. [Q9BTE6-1]
GeneIDi100885850.
80755.
KEGGihsa:100885850.
hsa:80755.
UCSCiuc002icd.3. human. [Q9BTE6-2]
uc010cyu.2. human. [Q9BTE6-1]
uc010whg.2. human. [Q9BTE6-3]

Polymorphism databases

DMDMi125987702.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK295447 mRNA. Translation: BAG58385.1 .
CR608238 mRNA. No translation available.
AC055866 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60903.1 .
BC004172 mRNA. Translation: AAH04172.1 .
BC019324 mRNA. Translation: AAH19324.1 .
CCDSi CCDS58552.1. [Q9BTE6-1 ]
RefSeqi NP_001129514.2. NM_001136042.2. [Q9BTE6-3 ]
NP_001248363.1. NM_001261434.1. [Q9BTE6-1 ]
NP_079543.1. NM_025267.3. [Q9BTE6-2 ]
UniGenei Hs.317403.

3D structure databases

ProteinModelPortali Q9BTE6.
SMRi Q9BTE6. Positions 8-247.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123290. 33 interactions.
IntActi Q9BTE6. 4 interactions.
STRINGi 9606.ENSP00000386621.

Polymorphism databases

DMDMi 125987702.

2D gel databases

REPRODUCTION-2DPAGE IPI00827636.

Proteomic databases

MaxQBi Q9BTE6.
PaxDbi Q9BTE6.
PRIDEi Q9BTE6.

Protocols and materials databases

DNASUi 80755.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360221 ; ENSP00000353355 ; ENSG00000108825 . [Q9BTE6-2 ]
ENST00000409399 ; ENSP00000386621 ; ENSG00000108825 . [Q9BTE6-3 ]
ENST00000421990 ; ENSP00000409924 ; ENSG00000108825 . [Q9BTE6-3 ]
ENST00000427569 ; ENSP00000400870 ; ENSG00000266967 . [Q9BTE6-1 ]
GeneIDi 100885850.
80755.
KEGGi hsa:100885850.
hsa:80755.
UCSCi uc002icd.3. human. [Q9BTE6-2 ]
uc010cyu.2. human. [Q9BTE6-1 ]
uc010whg.2. human. [Q9BTE6-3 ]

Organism-specific databases

CTDi 100885850.
80755.
GeneCardsi GC17M041102.
GC17M041103.
HGNCi HGNC:28417. AARSD1.
HGNC:43946. PTGES3L-AARSD1.
HPAi HPA021408.
HPA022869.
HPA023714.
MIMi 613212. gene.
neXtProti NX_Q9BTE6.
PharmGKBi PA142670464.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2872.
HOGENOMi HOG000230967.
HOVERGENi HBG080017.
InParanoidi Q9BTE6.
KOi K07050.
OMAi GDNEFMN.
OrthoDBi EOG71RXJT.
PhylomeDBi Q9BTE6.
TreeFami TF323735.

Miscellaneous databases

NextBioi 71103.
PROi Q9BTE6.
SOURCEi Search...

Gene expression databases

Bgeei Q9BTE6.
CleanExi HS_AARSD1.
Genevestigatori Q9BTE6.

Family and domain databases

InterProi IPR018165. Ala-tRNA-synth_IIc_core.
IPR018164. Ala-tRNA-synth_IIc_N.
IPR018163. Thr/Ala-tRNA-synth_IIc_edit.
IPR009000. Transl_B-barrel.
IPR012947. tRNA_SAD.
[Graphical view ]
Pfami PF01411. tRNA-synt_2c. 1 hit.
PF07973. tRNA_SAD. 1 hit.
[Graphical view ]
SMARTi SM00863. tRNA_SAD. 1 hit.
[Graphical view ]
SUPFAMi SSF50447. SSF50447. 1 hit.
SSF55186. SSF55186. 1 hit.
PROSITEi PS50860. AA_TRNA_LIGASE_II_ALA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "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] (ISOFORM 3).
    Tissue: Hippocampus.
  2. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Neuroblastoma.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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).
    Tissue: Lung.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAASD1_HUMAN
AccessioniPrimary (citable) accession number: Q9BTE6
Secondary accession number(s): B4DI73
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: July 9, 2014
This is version 113 of the entry and version 2 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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