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Q6ZNB7

- ALKMO_HUMAN

UniProt

Q6ZNB7 - ALKMO_HUMAN

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Protein

Alkylglycerol monooxygenase

Gene

AGMO

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.1 Publication

Catalytic activityi

1-alkyl-sn-glycerol + tetrahydrobiopterin + O2 = 1-O-alkyl-sn-glycerol + dihydrobiopterin + H2O.1 Publication

Cofactori

Iron.1 Publication

Kineticsi

  1. KM=11 µM for 1-O pyrenedecyl glycerol (in presence of ALDH3A2)1 Publication
  2. KM=2.58 µM for tetrahydrobiopterin (in presence of ALDH3A2)1 Publication

GO - Molecular functioni

  1. glyceryl-ether monooxygenase activity Source: UniProtKB
  2. iron ion binding Source: UniProtKB

GO - Biological processi

  1. ether lipid metabolic process Source: UniProtKB
  2. fatty acid biosynthetic process Source: InterPro
  3. membrane lipid metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

Iron

Names & Taxonomyi

Protein namesi
Recommended name:
Alkylglycerol monooxygenase (EC:1.14.16.5)
Alternative name(s):
Transmembrane protein 195
Gene namesi
Name:AGMO
Synonyms:TMEM195
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:33784. AGMO.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi132 – 1321H → A: Loss of function; when associated with A-136; A-145; A-148; A-149; A-221; A-224 and A-225. 1 Publication
Mutagenesisi136 – 1361H → A: Loss of function; when associated with A-132; A-145; A-148; A-149; A-221; A-224 and A-225. 1 Publication
Mutagenesisi145 – 1451H → A: Loss of function; when associated with A-132; A-136; A-148; A-149; A-221; A-224 and A-225. 1 Publication
Mutagenesisi148 – 1481H → A: Loss of function; when associated with A-132; A-136; A-145; A-149; A-221; A-224 and A-225. 1 Publication
Mutagenesisi149 – 1491H → A: Loss of function; when associated with A-132; A-136; A-145; A-148; A-221; A-224 and A-225. 1 Publication
Mutagenesisi221 – 2211H → A: Loss of function; when associated with A-132; A-136; A-145; A-148; A-149; A-224 and A-225. 1 Publication
Mutagenesisi224 – 2241H → A: Loss of function; when associated with A-132; A-136; A-145; A-148; A-149; A-221 and A-225. 1 Publication
Mutagenesisi225 – 2251H → A: Loss of function; when associated with A-132; A-136; A-145; A-148; A-149; A-221 and A-224. 1 Publication

Organism-specific databases

PharmGKBiPA162406334.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 445445Alkylglycerol monooxygenasePRO_0000299300Add
BLAST

Proteomic databases

MaxQBiQ6ZNB7.
PaxDbiQ6ZNB7.
PRIDEiQ6ZNB7.

PTM databases

PhosphoSiteiQ6ZNB7.

Expressioni

Gene expression databases

BgeeiQ6ZNB7.
CleanExiHS_TMEM195.
ExpressionAtlasiQ6ZNB7. baseline and differential.
GenevestigatoriQ6ZNB7.

Organism-specific databases

HPAiHPA040332.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000341662.

Structurei

3D structure databases

ProteinModelPortaliQ6ZNB7.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei43 – 6321HelicalSequence AnalysisAdd
BLAST
Transmembranei111 – 13121HelicalSequence AnalysisAdd
BLAST
Transmembranei334 – 35421HelicalSequence AnalysisAdd
BLAST
Transmembranei363 – 38321HelicalSequence AnalysisAdd
BLAST
Transmembranei413 – 43321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi132 – 1365Histidine box-1
Motifi145 – 1495Histidine box-2
Motifi221 – 2255Histidine box-3

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3000.
HOVERGENiHBG097659.
InParanoidiQ6ZNB7.
KOiK15537.
OMAiQGFRMLF.
OrthoDBiEOG7HQN81.
PhylomeDBiQ6ZNB7.
TreeFamiTF314881.

Family and domain databases

InterProiIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamiPF04116. FA_hydroxylase. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6ZNB7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MKNPEAQQDV SVSQGFRMLF YTMKPSETSF QTLEEVPDYV KKATPFFISL
60 70 80 90 100
MLLELVVSWI LKGKPPGRLD DALTSISAGV LSRLPSLFFR SIELTSYIYI
110 120 130 140 150
WENYRLFNLP WDSPWTWYSA FLGVDFGYYW FHRMAHEVNI MWAGHQTHHS
160 170 180 190 200
SEDYNLSTAL RQSVLQIYTS WIFYSPLALF IPPSVYAVHL QFNLLYQFWI
210 220 230 240 250
HTEVINNLGP LELILNTPSH HRVHHGRNRY CIDKNYAGVL IIWDKIFGTF
260 270 280 290 300
EAENEKVVYG LTHPINTFEP IKVQFHHLFS IWTTFWATPG FFNKFSVIFK
310 320 330 340 350
GPGWGPGKPR LGLSEEIPEV TGKEVPFSSS SSQLLKIYTV VQFALMLAFY
360 370 380 390 400
EETFADTAAL SQVTLLLRVC FIILTLTSIG FLLDQRPKAA IMETLRCLMF
410 420 430 440
LMLYRFGHLK PLVPSLSSAF EIVFSICIAF WGVRSMKQLT SHPWK
Length:445
Mass (Da):51,500
Last modified:July 5, 2004 - v1
Checksum:iD6C8705DF1A8E043
GO

Sequence cautioni

The sequence EAL24290.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti279 – 2791F → L.
Corresponds to variant rs58564185 [ dbSNP | Ensembl ].
VAR_062201
Natural varianti280 – 2801S → Y.
Corresponds to variant rs59160822 [ dbSNP | Ensembl ].
VAR_062202

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK131284 mRNA. Translation: BAD18458.1.
CH236948 Genomic DNA. Translation: EAL24290.1. Sequence problems.
BC108676 mRNA. Translation: AAI08677.1.
CCDSiCCDS34604.1.
RefSeqiNP_001004320.1. NM_001004320.1.
UniGeneiHs.670634.

Genome annotation databases

EnsembliENST00000342526; ENSP00000341662; ENSG00000187546.
GeneIDi392636.
KEGGihsa:392636.
UCSCiuc003stb.1. human.

Polymorphism databases

DMDMi74710656.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK131284 mRNA. Translation: BAD18458.1 .
CH236948 Genomic DNA. Translation: EAL24290.1 . Sequence problems.
BC108676 mRNA. Translation: AAI08677.1 .
CCDSi CCDS34604.1.
RefSeqi NP_001004320.1. NM_001004320.1.
UniGenei Hs.670634.

3D structure databases

ProteinModelPortali Q6ZNB7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000341662.

PTM databases

PhosphoSitei Q6ZNB7.

Polymorphism databases

DMDMi 74710656.

Proteomic databases

MaxQBi Q6ZNB7.
PaxDbi Q6ZNB7.
PRIDEi Q6ZNB7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342526 ; ENSP00000341662 ; ENSG00000187546 .
GeneIDi 392636.
KEGGi hsa:392636.
UCSCi uc003stb.1. human.

Organism-specific databases

CTDi 392636.
GeneCardsi GC07M015239.
HGNCi HGNC:33784. AGMO.
HPAi HPA040332.
MIMi 613738. gene.
neXtProti NX_Q6ZNB7.
PharmGKBi PA162406334.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3000.
HOVERGENi HBG097659.
InParanoidi Q6ZNB7.
KOi K15537.
OMAi QGFRMLF.
OrthoDBi EOG7HQN81.
PhylomeDBi Q6ZNB7.
TreeFami TF314881.

Miscellaneous databases

GenomeRNAii 392636.
NextBioi 105330.
PROi Q6ZNB7.
SOURCEi Search...

Gene expression databases

Bgeei Q6ZNB7.
CleanExi HS_TMEM195.
ExpressionAtlasi Q6ZNB7. baseline and differential.
Genevestigatori Q6ZNB7.

Family and domain databases

InterProi IPR006694. Fatty_acid_hydroxylase.
[Graphical view ]
Pfami PF04116. FA_hydroxylase. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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].
  2. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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].
    Tissue: Eye.
  4. "Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes."
    Watschinger K., Keller M.A., Golderer G., Hermann M., Maglione M., Sarg B., Lindner H.H., Hermetter A., Werner-Felmayer G., Konrat R., Hulo N., Werner E.R.
    Proc. Natl. Acad. Sci. U.S.A. 107:13672-13677(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, COFACTOR, SUBCELLULAR LOCATION, MUTAGENESIS OF HIS-132; HIS-136; HIS-145; HIS-148; HIS-149; HIS-221; HIS-224 AND HIS-225.

Entry informationi

Entry nameiALKMO_HUMAN
AccessioniPrimary (citable) accession number: Q6ZNB7
Secondary accession number(s): A4D114, A6NCH5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 79 of the entry and version 1 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3