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Q6IEE8

- SN12L_HUMAN

UniProt

Q6IEE8 - SN12L_HUMAN

Protein

Schlafen family member 12-like

Gene

SLFN12L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 4 (14 May 2014)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. ATP binding Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Schlafen family member 12-like
    Gene namesi
    Name:SLFN12L
    Synonyms:SLFN5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:33920. SLFN12L.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162403886.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 588588Schlafen family member 12-likePRO_0000336097Add
    BLAST

    Proteomic databases

    PaxDbiQ6IEE8.
    PRIDEiQ6IEE8.

    PTM databases

    PhosphoSiteiQ6IEE8.

    Expressioni

    Gene expression databases

    BgeeiQ6IEE8.
    CleanExiHS_SLFN12L.
    HS_SLFN5.
    GenevestigatoriQ6IEE8.

    Organism-specific databases

    HPAiHPA024447.

    Interactioni

    Protein-protein interaction databases

    BioGridi131188. 2 interactions.
    STRINGi9606.ENSP00000354412.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6IEE8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei566 – 58621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Schlafen family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG27497.
    HOGENOMiHOG000133056.
    HOVERGENiHBG057499.
    InParanoidiQ6IEE8.
    OrthoDBiEOG7GTT3N.
    PhylomeDBiQ6IEE8.
    TreeFamiTF337168.

    Family and domain databases

    InterProiIPR007421. ATPase_AAA-4.
    [Graphical view]
    PfamiPF04326. AAA_4. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6IEE8-1) [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

    MDLARKEFLR GNGLAAGKMN ISIDLDTNYA ELVLNVGRVT LGENNRKKMK    50
    DCQLRKQQNE NVSRAVCALL NSGGGVIKAE VENKGYSYKK DGIGLDLENS 100
    FSNMLPFVPN FLDFMQNGNY FHIFVKSWSL ETSGPQIATL SSSLYKRDVT 150
    SAKVMNASAA LEFLKDMEKT GGRAYLRPEF PAKRACVDVQ EESNMEALAA 200
    DFFNRTELGY KEKLTFTEST HVEIKNFSTE KLLQRITEIL PQYVSAFANT 250
    DGGYLFVGLN EDKEVIGFKA EKSYLTKLEE VTKNSIGKLP VHHFCVEKGT 300
    INYLCKFLGV YDKGRLCGYV YALRVERFCC AVFAKKPDSW HVKDNRVKQL 350
    TEKEWIQFMV DSEPVCEELP SPASTSSPVS QSYPLREYIN FKIQPLRYHL 400
    PGLSEKITCA PKTFCRNLFS QHEGLKQLIC EEMGSVNKGS LIFSRSWSLD 450
    LGLQENHKVL CDALLISQDK PPVLYTFHMV QDEEFKDYST QTAQTLKQKL 500
    AKIGGYTKKV CVMTKIFYLS PEGKTSCQYD LNSQVIYPES YYWTTAQTMK 550
    DLEKALSNIL PKENQIFLFV CLFRFCLFVC WFVCFFLR 588

    Note: Gene prediction based on similarity to Pongo abelii ortholog.

    Length:588
    Mass (Da):67,096
    Last modified:May 14, 2014 - v4
    Checksum:iC8B7C194140C6A50
    GO
    Isoform 2 (identifier: Q6IEE8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-4: MDLA → MAMKIMEKIRNVFHCEAHRILYICESQFLRNFI

    Show »
    Length:617
    Mass (Da):70,734
    Checksum:i2E14C83E8AB76200
    GO

    Sequence cautioni

    The sequence CAD80167.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 2 (identifier: Q6IEE8-2)
    Sequence conflicti13 – 131F → S in AK172761. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti275 – 2751L → S.
    Corresponds to variant rs12451679 [ dbSNP | Ensembl ].
    VAR_043551
    Natural varianti373 – 3731A → G.
    Corresponds to variant rs2304967 [ dbSNP | Ensembl ].
    VAR_043552
    Natural varianti430 – 4301C → Y.
    Corresponds to variant rs2304968 [ dbSNP | Ensembl ].
    VAR_043553
    Natural varianti518 – 5181Y → S.
    Corresponds to variant rs3744372 [ dbSNP | Ensembl ].
    VAR_043554

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 44MDLA → MAMKIMEKIRNVFHCEAHRI LYICESQFLRNFI in isoform 2. 1 PublicationVSP_040137

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK172761 mRNA. No translation available.
    AC015911 Genomic DNA. No translation available.
    BN000147 mRNA. Translation: CAD80167.1. Sequence problems.
    CCDSiCCDS56026.1. [Q6IEE8-1]
    RefSeqiNP_001182719.1. NM_001195790.1. [Q6IEE8-1]
    UniGeneiHs.447559.

    Genome annotation databases

    EnsembliENST00000260908; ENSP00000437635; ENSG00000205045. [Q6IEE8-1]
    ENST00000361112; ENSP00000354412; ENSG00000205045. [Q6IEE8-2]
    GeneIDi100506736.
    KEGGihsa:100506736.
    UCSCiuc002hjn.3. human. [Q6IEE8-2]

    Polymorphism databases

    DMDMi313104287.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK172761 mRNA. No translation available.
    AC015911 Genomic DNA. No translation available.
    BN000147 mRNA. Translation: CAD80167.1 . Sequence problems.
    CCDSi CCDS56026.1. [Q6IEE8-1 ]
    RefSeqi NP_001182719.1. NM_001195790.1. [Q6IEE8-1 ]
    UniGenei Hs.447559.

    3D structure databases

    ProteinModelPortali Q6IEE8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131188. 2 interactions.
    STRINGi 9606.ENSP00000354412.

    PTM databases

    PhosphoSitei Q6IEE8.

    Polymorphism databases

    DMDMi 313104287.

    Proteomic databases

    PaxDbi Q6IEE8.
    PRIDEi Q6IEE8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260908 ; ENSP00000437635 ; ENSG00000205045 . [Q6IEE8-1 ]
    ENST00000361112 ; ENSP00000354412 ; ENSG00000205045 . [Q6IEE8-2 ]
    GeneIDi 100506736.
    KEGGi hsa:100506736.
    UCSCi uc002hjn.3. human. [Q6IEE8-2 ]

    Organism-specific databases

    CTDi 100506736.
    GeneCardsi GC17M033791.
    HGNCi HGNC:33920. SLFN12L.
    HPAi HPA024447.
    MIMi 614956. gene.
    neXtProti NX_Q6IEE8.
    PharmGKBi PA162403886.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG27497.
    HOGENOMi HOG000133056.
    HOVERGENi HBG057499.
    InParanoidi Q6IEE8.
    OrthoDBi EOG7GTT3N.
    PhylomeDBi Q6IEE8.
    TreeFami TF337168.

    Miscellaneous databases

    NextBioi 34054390.
    PROi Q6IEE8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6IEE8.
    CleanExi HS_SLFN12L.
    HS_SLFN5.
    Genevestigatori Q6IEE8.

    Family and domain databases

    InterProi IPR007421. ATPase_AAA-4.
    [Graphical view ]
    Pfami PF04326. AAA_4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] (ISOFORM 2).
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region."
      Kehrer-Sawatzki H., Tinschert S., Jenne D.E.
      J. Med. Genet. 40:E116-E116(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION (ISOFORM 1).

    Entry informationi

    Entry nameiSN12L_HUMAN
    AccessioniPrimary (citable) accession number: Q6IEE8
    Secondary accession number(s): F5H6G3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: May 14, 2014
    Last modified: October 1, 2014
    This is version 72 of the entry and version 4 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 17
      Human chromosome 17: 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