Reviewed, UniProtKB/Swiss-Prot Q3SY69 (AL1L2_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
    EC=1.5.1.6
Alternative name(s):
    Aldehyde dehydrogenase family 1 member L2

Gene names

Name:

ALDH1L2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	923 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	10-formyltetrahydrofolate + NADP(+) + H(2)O = tetrahydrofolate + CO(2) + NADPH.
Sequence similarities	In the N-terminal section; belongs to the GART family. In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily. Contains 1 acyl carrier domain.
Sequence caution	The sequence AAI03936.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
Biological process	One-carbon metabolism
Coding sequence diversity	Alternative splicing
Ligand	NADP Phosphopantetheine
Molecular function	Oxidoreductase
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q3SY69-1)

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.

Isoform 2 (identifier: Q3SY69-2)

The sequence of this isoform differs from the canonical sequence as follows:
     199-203: VEAVQ → KLSNS
     204-923: Missing.

Notes: No experimental confirmation available.

Isoform 3 (identifier: Q3SY69-3)

The sequence of this isoform differs from the canonical sequence as follows:
     512-516: RLADL → SMRMN
     517-923: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 923	923	Probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
Regions
	Domain	344 – 413	70	Acyl carrier
	Region	23 – 225	203	GART
	Region	438 – 923	486	Aldehyde dehydrogenase
Sites
	Active site	128	1	Proton donor By similarity
	Active site	694	1	By similarity
	Active site	728	1	By similarity
	Binding site	375	1	Phosphopantetheine (covalent) By similarity
	Site	164	1	Essential for catalytic activity By similarity
Natural variations
	Alternative sequence	199 – 203	5	VEAVQ → KLSNS in isoform 2.
	Alternative sequence	204 – 923	720	Missing in isoform 2.
	Alternative sequence	512 – 516	5	RLADL → SMRMN in isoform 3.
	Alternative sequence	517 – 923	407	Missing in isoform 3.
Experimental info
	Sequence conflict	712	1	A → T in AAI03935. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: C5DD74506F08AAFE	FASTA	923	101,746
	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
	Isoform 2 [UniParc]. Checksum: 4D3484F504153102		203	22,643
	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 TVDALYNRFL FPEGIKAMKL SNS
	Isoform 3 [UniParc]. Checksum: 8C14B32D61FEFFF4		516	57,244
	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 DVDKAVAAAK DAFENGEWGR MNARERGRLM YSMRMN

References

[1]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-752 (ISOFORM 1). Tissue: Chondrocyte.
[3]	The German cDNA consortium Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 221-511 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 762-923 (ISOFORM 1). Tissue: Cervix and Uterus.

Cross-references

Sequence databases
EMBLGenBankDDBJ	BC103934 mRNA. Translation: AAI03935.1. BC103935 mRNA. Translation: AAI03936.1. Sequence problems. AK095827 mRNA. Translation: BAC04634.1. CR627287 mRNA. Translation: CAH10368.1. Different termination. CR749561 mRNA. Translation: CAH18358.1.
RefSeq	NP_001029345.1.
UniGene	Hs.42572
3D structure databases
SMR	Q3SY69. Positions 426-923.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000136010. Homo sapiens. [Contig view]
GeneID	160428.
KEGG	hsa:160428.
Organism-specific databases
HGNC	HGNC:26777. ALDH1L2.
PharmGKB	PA134928545.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q3SY69.
HOVERGEN	Q3SY69.
Gene expression databases
ArrayExpress	Q3SY69.
CleanEx	HS_ALDH1L2.
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]
Gene3D	G3DSA:3.40.605.10. Aldehyde_dehydrogenase_N. 1 hit. G3DSA:3.10.25.10. Formyl_trans_C. 1 hit. G3DSA:3.40.50.170. Formyl_transf_N. 1 hit.
PANTHER	PTHR11699. Aldehyde_dehyd. 1 hit.
Pfam	PF00171. Aldedh. 1 hit. PF02911. Formyl_trans_C. 1 hit. PF00551. Formyl_trans_N. 1 hit. [Graphical view]
PIRSF	PIRSF036489. 10-FTHFDH. 1 hit.
PROSITE	PS50075. ACP_DOMAIN. 1 hit. PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. PS00373. GART. 1 hit. PS00012. PHOSPHOPANTETHEINE. 1 hit. [Graphical view]
ProDom	Q3SY69. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

Entry information

Entry name

AL1L2_HUMAN

Accession

Primary (citable) accession number: Q3SY69
Secondary accession number(s): Q3SY68 , Q68D62, Q6AI55, Q8N922

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	July 22, 2008
This is version 29 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)