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Q9NXW9 (ALKB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4

EC=1.14.11.-
Alternative name(s):
Alkylated DNA repair protein alkB homolog 4
Gene names
Name:ALKBH4
Synonyms:ABH4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length302 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 302302Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4
PRO_0000239281

Sites

Metal binding1691Iron; catalytic By similarity
Metal binding1711Iron; catalytic By similarity
Metal binding2541Iron; catalytic By similarity

Natural variations

Alternative sequence421K → E in isoform 2.
VSP_019128
Alternative sequence43 – 302260Missing in isoform 2.
VSP_036841
Natural variant2471A → V.
Corresponds to variant rs41275227 [ dbSNP | Ensembl ].
VAR_061004

Experimental info

Sequence conflict2101A → V in BAD96409. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 67C2DFE058962AF4

FASTA30233,838
        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 

« Hide

Isoform 2 [UniParc].

Checksum: D1438DF90A61CD02
Show »

FASTA424,556

References

« Hide '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. expand/collapse author list , 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] (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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.
IPIIPI00033770.
IPI00759604.
RefSeqNP_060091.1. NM_017621.3.
UniGeneHs.658598.

3D structure databases

ProteinModelPortalQ9NXW9.
SMRQ9NXW9. Positions 70-275.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000292566.

Polymorphism databases

DMDM74734701.

Proteomic databases

PaxDbQ9NXW9.
PRIDEQ9NXW9.

Protocols and materials databases

DNASU54784.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000292566; ENSP00000292566; ENSG00000160993.
ENST00000490528; ENSP00000420362; ENSG00000160993.
GeneID54784.
KEGGhsa:54784.
UCSCuc003uzl.3. human.

Organism-specific databases

CTD54784.
GeneCardsGC07M102096.
HGNCHGNC:21900. ALKBH4.
HPAHPA051422.
MIM613302. gene.
neXtProtNX_Q9NXW9.
PharmGKBPA143485294.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG255556.
HOGENOMHOG000015835.
HOVERGENHBG062006.
InParanoidQ9NXW9.
KOK10766.
OMAIHRRHIE.
OrthoDBEOG48WC2M.
PhylomeDBQ9NXW9.

Gene expression databases

BgeeQ9NXW9.
CleanExHS_ALKBH4.
GenevestigatorQ9NXW9.
GermOnlineENSG00000160993. Homo sapiens.

Family and domain databases

InterProIPR005123. Oxoglu/Fe-dep_dioxygenase.
[Graphical view]
PfamPF03171. 2OG-FeII_Oxy. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54784.
NextBio57445.
SOURCESearch...

Entry information

Entry nameALKB4_HUMAN
AccessionPrimary (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: April 3, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families