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UniProtKB/Swiss-Prot entry Q3SY69


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name AL1L2_HUMAN
Primary accession number Q3SY69
Secondary accession numbers Q3SY68 Q68D62 Q6AI55 Q8N922
Integrated into Swiss-Prot on January 15, 2008
Sequence was last modified on January 15, 2008 (Sequence version 2)
Annotations were last modified on    November 4, 2008 (Entry version 30)
Name and origin of the protein
Protein name Probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
Synonyms EC 1.5.1.6
Aldehyde dehydrogenase family 1 member L2
Gene name
Name: ALDH1L2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-752 (ISOFORM 1).
TISSUE=Chondrocyte;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 221-511 (ISOFORM 3), AND NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 762-923 (ISOFORM 1).
TISSUE=Cervix, and Uterus;
The German cDNA consortium;
Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
BC103934; AAI03935.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC103935; AAI03936.1; ALT_SEQ; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK095827; BAC04634.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CR627287; CAH10368.1; ALT_TERM; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CR749561; CAH18358.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_001029345.1; -.
UniGene Hs.42572
3D structure databases
SMR Q3SY69; 426-923.
ModBase Q3SY69.
Organism-specific databases
HGNC HGNC:26777; ALDH1L2.
GenAtlas ALDH1L2.
PharmGKB PA134928545; -.
GeneCards Q3SY69.
Gene expression databases
ArrayExpress Q3SY69; -.
CleanEx HS_ALDH1L2; -.
Ontologies
GO
GO:0055114; Biological process: oxidation reduction (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR011407; 10_FTHF_DHase.
IPR016160; Ald_DHase_CS.
IPR016162; Ald_DHase_N.
IPR015590; Aldehyde_DHase.
IPR005793; Formyl_trans_C.
IPR002376; Formyl_transf_N.
IPR001555; GART_AS.
IPR006163; Phsphopanteth_bd.
IPR006162; Ppantne_S.
Graphical view of domain structure.
Gene3D G3DSA:3.40.605.10; Aldehyde_dehydrogenase_N; 1.
G3DSA:3.10.25.10; Formyl_trans_C; 1.
G3DSA:3.40.50.170; Formyl_transf_N; 1.
PANTHER PTHR11699; Aldehyde_dehyd; 1.
Pfam PF00171; Aldedh; 1.
PF02911; Formyl_trans_C; 1.
PF00551; Formyl_trans_N; 1.
Pfam graphical view of domain structure.
PIRSF PIRSF036489; 10-FTHFDH; 1.
PROSITE PS50075; ACP_DOMAIN; 1.
PS00070; ALDEHYDE_DEHYDR_CYS; 1.
PS00687; ALDEHYDE_DEHYDR_GLU; 1.
PS00373; GART; 1.
PS00012; PHOSPHOPANTETHEINE; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q3SY69.
ProtoNet Q3SY69.
Genome annotation databases
Ensembl ENSG00000136010; Homo sapiens. [Contig view]
GeneID 160428; -.
KEGG hsa:160428; -.
Phylogenomic databases
HOGENOM Q3SY69; -.
HOVERGEN Q3SY69; -.
Other
NextBio 87968; -.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; NADP; One-carbon metabolism; Oxidoreductase; Phosphopantetheine.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   923  923     Probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2. PRO_0000316001
DOMAIN   344   413  70     Acyl carrier. 
REGION   23   225  203     GART. 
REGION   438   923  486     Aldehyde dehydrogenase. 
ACT_SITE   128   128        Proton donor (By similarity). 
ACT_SITE   694   694        By similarity. 
ACT_SITE   728   728        By similarity. 
BINDING   375   375        Phosphopantetheine (covalent) (By similarity). 
SITE   164   164  1     Essential for catalytic activity (By similarity). 
VAR_SEQ   199   203        VEAVQ -> KLSNS (in isoform 2). VSP_030752
VAR_SEQ   204   923        Missing (in isoform 2). VSP_030753
VAR_SEQ   512   516        RLADL -> SMRMN (in isoform 3). VSP_030754
VAR_SEQ   517   923        Missing (in isoform 3). VSP_030755
CONFLICT   712   712        A -> T (in Ref. 1; AAI03935). 
Sequence information
Length: 923 AA [This is the length of the unprocessed precursor] Molecular weight: 101746 Da [This is the MW of the unprocessed precursor] CRC64: C5DD74506F08AAFE [This is a checksum on the sequence]
        10         20         30         40         50         60 
MLRRGSQALR RFSTGRVYFK NKLKLALIGQ SLFGQEVYSH LRKEGHRVVG VFTVPDKDGK 

        70         80         90        100        110        120 
ADPLALAAEK DGTPVFKLPK WRVKGKTIKE VAEAYRSVGA ELNVLPFCTQ FIPMDIIDSP 

       130        140        150        160        170        180 
KHGSIIYHPS ILPRHRGASA INWTLIMGDK KAGFSVFWAD DGLDTGPILL QRSCDVEPND 

       190        200        210        220        230        240 
TVDALYNRFL FPEGIKAMVE AVQLIADGKA PRIPQPEEGA TYEGIQKKEN AEISWDQSAE 

       250        260        270        280        290        300 
VLHNWIRGHD KVPGAWTEIN GQMVTFYGST LLNSSVPPGE PLEIKGAKKP GLVTKNGLVL 

       310        320        330        340        350        360 
FGNDGKALTV RNLQFEDGKM IPASQYFSTG ETSVVELTAE EVKVAETIKV IWAGILSNVP 

       370        380        390        400        410        420 
IIEDSTDFFK SGASSMDVAR LVEEIRQKCG GLQLQNEDVY MATKFEGFIQ KVVRKLRGED 

       430        440        450        460        470        480 
QEVELVVDYI SKEVNEIMVK MPYQCFINGQ FTDADDGKTY DTINPTDGST ICKVSYASLA 

       490        500        510        520        530        540 
DVDKAVAAAK DAFENGEWGR MNARERGRLM YRLADLLEEN QEELATIEAL DSGAVYTLAL 

       550        560        570        580        590        600 
KTHIGMSVQT FRYFAGWCDK IQGSTIPINQ ARPNRNLTFT KKEPLGVCAI IIPWNYPLMM 

       610        620        630        640        650        660 
LAWKSAACLA AGNTLVLKPA QVTPLTALKF AELSVKAGFP KGVINIIPGS GGIAGQRLSE 

       670        680        690        700        710        720 
HPDIRKLGFT GSTPIGKQIM KSCAVSNLKK VSLELGGKSP LIIFNDCELD KAVRMGMGAV 

       730        740        750        760        770        780 
FFNKGENCIA AGRLFVEESI HDEFVTRVVE EIKKMKIGDP LDRSTDHGPQ NHKAHLEKLL 

       790        800        810        820        830        840 
QYCETGVKEG ATLVYGGRQV QRPGFFMEPT VFTDVEDYMY LAKEESFGPI MVISKFQNGD 

       850        860        870        880        890        900 
IDGVLQRANS TEYGLASGVF TRDINKAMYV SEKLEAGTVF INTYNKTDVA APFGGVKQSG 

       910        920 
FGKDLGEEAL NEYLKTKTVT LEY 

Q3SY69 in FASTA format

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