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Q96K12

- FACR2_HUMAN

UniProt

Q96K12 - FACR2_HUMAN

Protein

Fatty acyl-CoA reductase 2

Gene

FAR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Catalyzes the reduction of fatty acyl-CoA to fatty alcohols. The preferred substrates are C16, C18, C18:1 and C18:2 but low activity can be observed with C10-C14 substrates.1 Publication

    Catalytic activityi

    Hexadecanal + CoA + NADP+ = hexadecanoyl-CoA + NADPH.

    GO - Molecular functioni

    1. fatty-acyl-CoA reductase (alcohol-forming) activity Source: UniProtKB
    2. long-chain-fatty-acyl-CoA reductase activity Source: Ensembl

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. ether lipid biosynthetic process Source: Reactome
    3. long-chain fatty-acyl-CoA metabolic process Source: UniProtKB
    4. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    ReactomeiREACT_1407. Plasmalogen biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fatty acyl-CoA reductase 2 (EC:1.2.1.n2)
    Alternative name(s):
    Male sterility domain-containing protein 1
    Gene namesi
    Name:FAR2
    Synonyms:MLSTD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:25531. FAR2.

    Subcellular locationi

    Peroxisome membrane Curated; Multi-pass membrane protein Curated. Endoplasmic reticulum membrane Curated; Multi-pass membrane protein Curated
    Note: Peroxisome in cells expressing low levels of the protein. Peroxisome and endoplasmic reticulum in cells expressing high levels of the protein.

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. peroxisomal matrix Source: Reactome
    4. peroxisomal membrane Source: UniProtKB-SubCell
    5. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Peroxisome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162388036.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 515515Fatty acyl-CoA reductase 2PRO_0000261401Add
    BLAST

    Proteomic databases

    MaxQBiQ96K12.
    PaxDbiQ96K12.
    PRIDEiQ96K12.

    PTM databases

    PhosphoSiteiQ96K12.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96K12.
    BgeeiQ96K12.
    CleanExiHS_FAR2.
    GenevestigatoriQ96K12.

    Organism-specific databases

    HPAiHPA015884.

    Interactioni

    Protein-protein interaction databases

    BioGridi120834. 2 interactions.
    STRINGi9606.ENSP00000182377.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96K12.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei465 – 48420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei491 – 51020HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the fatty acyl-CoA reductase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG325153.
    HOGENOMiHOG000261667.
    HOVERGENiHBG076152.
    InParanoidiQ96K12.
    KOiK13356.
    OMAiNIHYLFN.
    PhylomeDBiQ96K12.
    TreeFamiTF313011.

    Family and domain databases

    Gene3Di3.40.50.720. 2 hits.
    InterProiIPR026055. FAR.
    IPR013120. Male_sterile_NAD-bd.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view]
    PANTHERiPTHR11011. PTHR11011. 1 hit.
    PfamiPF07993. NAD_binding_4. 1 hit.
    PF03015. Sterile. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96K12-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSTIAAFYGG KSILITGATG FLGKVLMEKL FRTSPDLKVI YILVRPKAGQ    50
    TLQQRVFQIL DSKLFEKVKE VCPNVHEKIR AIYADLNQND FAISKEDMQE 100
    LLSCTNIIFH CAATVRFDDT LRHAVQLNVT ATRQLLLMAS QMPKLEAFIH 150
    ISTAYSNCNL KHIDEVIYPC PVEPKKIIDS LEWLDDAIID EITPKLIRDW 200
    PNIYTYTKAL GEMVVQQESR NLNIAIIRPS IVGATWQEPF PGWVDNINGP 250
    NGIIIATGKG FLRAIKATPM AVADVIPVDT VVNLMLAVGW YTAVHRPKST 300
    LVYHITSGNM NPCNWHKMGV QVLATFEKIP FERPFRRPNA NFTSNSFTSQ 350
    YWNAVSHRAP AIIYDCYLRL TGRKPRMTKL MNRLLRTVSM LEYFINRSWE 400
    WSTYNTEMLM SELSPEDQRV FNFDVRQLNW LEYIENYVLG VKKYLLKEDM 450
    AGIPKAKQRL KRLRNIHYLF NTALFLIAWR LLIARSQMAR NVWFFIVSFC 500
    YKFLSYFRAS STLKV 515
    Length:515
    Mass (Da):59,438
    Last modified:December 1, 2001 - v1
    Checksum:i6EFC67ED29796094
    GO
    Isoform 2 (identifier: Q96K12-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:418
    Mass (Da):48,537
    Checksum:iD3C00E8A95635C5F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti51 – 511T → A in CAB66777. (PubMed:11230166)Curated
    Sequence conflicti167 – 1671I → T in BAA91625. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti326 – 3261F → S.
    Corresponds to variant rs17400011 [ dbSNP | Ensembl ].
    VAR_053801
    Natural varianti329 – 3291I → T.
    Corresponds to variant rs17404064 [ dbSNP | Ensembl ].
    VAR_053802

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9797Missing in isoform 2. 1 PublicationVSP_055648Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136843 mRNA. Translation: CAB66777.1.
    AK001324 mRNA. Translation: BAA91625.1.
    AK027756 mRNA. Translation: BAB55347.1.
    AK129857 mRNA. No translation available.
    AC009318 Genomic DNA. No translation available.
    AC012150 Genomic DNA. No translation available.
    BC022267 mRNA. Translation: AAH22267.1.
    CCDSiCCDS8717.1.
    RefSeqiNP_001258712.1. NM_001271783.1.
    NP_060569.3. NM_018099.4.
    UniGeneiHs.728955.
    Hs.744741.

    Genome annotation databases

    EnsembliENST00000182377; ENSP00000182377; ENSG00000064763. [Q96K12-1]
    ENST00000536681; ENSP00000443291; ENSG00000064763. [Q96K12-1]
    ENST00000547116; ENSP00000449349; ENSG00000064763. [Q96K12-2]
    GeneIDi55711.
    KEGGihsa:55711.
    UCSCiuc001ris.5. human.

    Polymorphism databases

    DMDMi74732166.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136843 mRNA. Translation: CAB66777.1 .
    AK001324 mRNA. Translation: BAA91625.1 .
    AK027756 mRNA. Translation: BAB55347.1 .
    AK129857 mRNA. No translation available.
    AC009318 Genomic DNA. No translation available.
    AC012150 Genomic DNA. No translation available.
    BC022267 mRNA. Translation: AAH22267.1 .
    CCDSi CCDS8717.1.
    RefSeqi NP_001258712.1. NM_001271783.1.
    NP_060569.3. NM_018099.4.
    UniGenei Hs.728955.
    Hs.744741.

    3D structure databases

    ProteinModelPortali Q96K12.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120834. 2 interactions.
    STRINGi 9606.ENSP00000182377.

    PTM databases

    PhosphoSitei Q96K12.

    Polymorphism databases

    DMDMi 74732166.

    Proteomic databases

    MaxQBi Q96K12.
    PaxDbi Q96K12.
    PRIDEi Q96K12.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000182377 ; ENSP00000182377 ; ENSG00000064763 . [Q96K12-1 ]
    ENST00000536681 ; ENSP00000443291 ; ENSG00000064763 . [Q96K12-1 ]
    ENST00000547116 ; ENSP00000449349 ; ENSG00000064763 . [Q96K12-2 ]
    GeneIDi 55711.
    KEGGi hsa:55711.
    UCSCi uc001ris.5. human.

    Organism-specific databases

    CTDi 55711.
    GeneCardsi GC12P029302.
    H-InvDB HIX0010513.
    HGNCi HGNC:25531. FAR2.
    HPAi HPA015884.
    neXtProti NX_Q96K12.
    PharmGKBi PA162388036.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325153.
    HOGENOMi HOG000261667.
    HOVERGENi HBG076152.
    InParanoidi Q96K12.
    KOi K13356.
    OMAi NIHYLFN.
    PhylomeDBi Q96K12.
    TreeFami TF313011.

    Enzyme and pathway databases

    Reactomei REACT_1407. Plasmalogen biosynthesis.

    Miscellaneous databases

    ChiTaRSi FAR2. human.
    GenomeRNAii 55711.
    NextBioi 60577.
    PROi Q96K12.

    Gene expression databases

    ArrayExpressi Q96K12.
    Bgeei Q96K12.
    CleanExi HS_FAR2.
    Genevestigatori Q96K12.

    Family and domain databases

    Gene3Di 3.40.50.720. 2 hits.
    InterProi IPR026055. FAR.
    IPR013120. Male_sterile_NAD-bd.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view ]
    PANTHERi PTHR11011. PTHR11011. 1 hit.
    Pfami PF07993. NAD_binding_4. 1 hit.
    PF03015. Sterile. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Heart, Placenta and Teratocarcinoma.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Placenta.
    5. "Mammalian wax biosynthesis: I. Identification of two fatty acyl-coenzyme A reductases with different substrate specificities and tissue distributions."
      Cheng J.B., Russell D.W.
      J. Biol. Chem. 279:37789-37797(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiFACR2_HUMAN
    AccessioniPrimary (citable) accession number: Q96K12
    Secondary accession number(s): F8VV73, Q9H0D5, Q9NVW8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 102 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 12
      Human chromosome 12: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3