Q9NXW9 (ALKB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable alpha-ketoglutarate-dependent dioxygenase ABH4
EC=1.14.11.-

Alternative name(s):
Alkylated DNA repair protein alkB homolog 4

Gene names

Name:	ALKBH4
Synonyms:	ABH4

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	302 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron By similarity.
Cofactor	Binds 1 Fe2+ ion per subunit By similarity.
Subcellular location	Cytoplasm. Nucleus Ref.4.
Tissue specificity	Widely expressed, with highest expression in pancreas, ovary and spleen. Ref.4
Sequence similarities	Belongs to the alkB family.
Sequence caution	The sequence BAB15358.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Iron Metal-binding
Molecular function	Dioxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors Inferred from electronic annotation. Source: InterPro oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NXW9-1)

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: Q9NXW9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     42-42: K → E
     43-302: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 302	302	Probable alpha-ketoglutarate-dependent dioxygenase ABH4		PRO_0000239281
Sites
	Metal binding	169	1	Iron; catalytic By similarity
	Metal binding	171	1	Iron; catalytic By similarity
	Metal binding	254	1	Iron; catalytic By similarity
Natural variations
	Alternative sequence	42	1	K → E in isoform 2.		VSP_019128
	Alternative sequence	43 – 302	260	Missing in isoform 2.		VSP_036841
	Natural variant	247	1	A → V. Corresponds to variant rs41275227 [ dbSNP | Ensembl ].		VAR_061004
Experimental info
	Sequence conflict	210	1	A → V in BAD96409. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 67C2DFE058962AF4	FASTA	302	33,838
	10 20 30 40 50 60 MAAAAAETPE VLRECGCKGI RTCLICERQR GSDPPWELPP AKTYRFIYCS DTGWAVGTEE 70 80 90 100 110 120 SDFEGWAFPF PGVMLIEDFV TREEEAELVR LMDRDPWKLS QSGRRKQDYG PKVNFRKQKL 130 140 150 160 170 180 KTEGFCGLPS FSREVVRRMG LYPGLEGFRP VEQCNLDYCP ERGSAIDPHL DDAWLWGERL 190 200 210 220 230 240 VSLNLLSPTV LSMCREAPGS LLLCSAPSAA PEALVDSVIA PSRSVLCQEV EVAIPLPARS 250 260 270 280 290 300 LLVLTGAARH QWKHAIHRRH IEARRVCVTF RELSAEFGPG GRQQELGQEL LRIALSFQGR PV
	Isoform 2 [UniParc]. Checksum: D1438DF90A61CD02	FASTA	42	4,556
	10 20 30 40 MAAAAAETPE VLRECGCKGI RTCLICERQR GSDPPWELPP AE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Adipose tissue and Epithelium.
[2]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"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] (ISOFORM 1). Tissue: Lung and Placenta.
[4]	"Expression and sub-cellular localization of human ABH family molecules." Tsujikawa K., Koike K., Kitae K., Shinkawa A., Arima H., Suzuki T., Tsuchiya M., Makino Y., Furukawa T., Konishi N., Yamamoto H. J. Cell. Mol. Med. 11:1105-1116(2007) [PubMed: 17979886] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK000020 mRNA. Translation: BAA90888.1. AK026097 mRNA. Translation: BAB15358.1. Sequence problems. AK222689 mRNA. Translation: BAD96409.1. BC002820 mRNA. Translation: AAH02820.1. BC017096 mRNA. Translation: AAH17096.1.
IPI	IPI00033770. IPI00759604.
RefSeq	NP_060091.1. NM_017621.3.
UniGene	Hs.658598.
3D structure databases
ProteinModelPortal	Q9NXW9.
ModBase	Search...
Polymorphism databases
DMDM	74734701.
Proteomic databases
PRIDE	Q9NXW9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000292566; ENSP00000292566; ENSG00000160993.
GeneID	54784.
KEGG	hsa:54784.
UCSC	uc003uzl.1. human. uc003uzm.1. human.
Organism-specific databases
CTD	54784.
GeneCards	GC07M102096.
HGNC	HGNC:21900. ALKBH4.
MIM	613302. gene.
neXtProt	NX_Q9NXW9.
PharmGKB	PA143485294.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16300.
GeneTree	ENSGT00390000006344.
HOGENOM	HBG716549.
HOVERGEN	HBG062006.
InParanoid	Q9NXW9.
OMA	LDDAWLW.
OrthoDB	EOG48WC2M.
PhylomeDB	Q9NXW9.
Gene expression databases
ArrayExpress	Q9NXW9.
Bgee	Q9NXW9.
CleanEx	HS_ALKBH4.
Genevestigator	Q9NXW9.
GermOnline	ENSG00000160993. Homo sapiens.
Family and domain databases
InterPro	IPR005123. Oxoglutarate/Fe-dep_oxygenase. [Graphical view]
KO	K10766.
Pfam	PF03171. 2OG-FeII_Oxy. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	57445.
SOURCE	Search...

Entry information

Entry name

ALKB4_HUMAN

Accession

Primary (citable) accession number: Q9NXW9
Secondary accession number(s): Q53H92, Q9H6A4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2006
Last sequence update:	October 1, 2000
Last modified:	January 25, 2012
This is version 70 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.