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Q8NAG6

- ANKL1_HUMAN

UniProt

Q8NAG6 - ANKL1_HUMAN

Protein

Ankyrin repeat and LEM domain-containing protein 1

Gene

ANKLE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 2 (05 Oct 2010)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin repeat and LEM domain-containing protein 1
    Alternative name(s):
    Ankyrin repeat domain-containing protein 41
    LEM-domain containing protein 3
    Gene namesi
    Name:ANKLE1
    Synonyms:ANKRD41, LEM3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:26812. ANKLE1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162376509.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 615615Ankyrin repeat and LEM domain-containing protein 1PRO_0000244370Add
    BLAST

    Proteomic databases

    PaxDbiQ8NAG6.
    PRIDEiQ8NAG6.

    PTM databases

    PhosphoSiteiQ8NAG6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8NAG6.
    BgeeiQ8NAG6.
    GenevestigatoriQ8NAG6.

    Organism-specific databases

    HPAiHPA026789.

    Interactioni

    Protein-protein interaction databases

    BioGridi126001. 2 interactions.
    STRINGi9606.ENSP00000384753.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NAG6.
    SMRiQ8NAG6. Positions 23-129.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati39 – 7133ANK 1Add
    BLAST
    Repeati75 – 10430ANK 2Add
    BLAST
    Repeati108 – 13730ANK 3Add
    BLAST
    Domaini355 – 39945LEMPROSITE-ProRule annotationAdd
    BLAST
    Domaini448 – 566119GIY-YIGPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi582 – 5854Poly-Arg

    Sequence similaritiesi

    Contains 3 ANK repeats.PROSITE-ProRule annotation
    Contains 1 GIY-YIG domain.PROSITE-ProRule annotation
    Contains 1 LEM domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG137615.
    HOGENOMiHOG000015588.
    HOVERGENiHBG079451.
    OMAiDAHLWEA.
    OrthoDBiEOG7ZWD3N.
    PhylomeDBiQ8NAG6.
    TreeFamiTF319333.

    Family and domain databases

    Gene3Di1.10.720.40. 1 hit.
    1.25.40.20. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR000305. GIY-YIG_SF.
    IPR011015. LEM/LEM-like_dom.
    IPR003887. LEM_dom.
    [Graphical view]
    PfamiPF12796. Ank_2. 1 hit.
    PF03020. LEM. 1 hit.
    [Graphical view]
    SMARTiSM00248. ANK. 3 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    SSF63451. SSF63451. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    PS50164. GIY_YIG. 1 hit.
    PS50954. LEM. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NAG6-2) [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

    MCSEARLARR LRDALREEEP WAVEELLRCG ADPNLVLEDG AAAVHLAAGA    50
    RHPRGLRCLG ALLRQGGDPN ARSVEALTPL HVAAAWGCRR GLELLLSQGA 100
    DPALRDQDGL RPLDLALQQG HLECARVLQD LDTRTRTRTR IGAETQEPEP 150
    APGTPGLSGP TDETLDSIAL QKQPCRGDNR DIGLEADPGP PSLPVPLETV 200
    DKHGSSASPP GHWDYSSDAS FVTAVEVSGA EDPASDTPPW AGSLPPTRQG 250
    LLHVVHANQR VPRSQGTEAE LNARLQALTL TPPNAAGFQS SPSSMPLLDR 300
    SPAHSPPRTP TPGASDCHCL WEHQTSIDSD MATLWLTEDE ASSTGGREPV 350
    GPCRHLPVST VSDLELLKGL RALGENPHPI TPFTRQLYHQ QLEEAQIAPG 400
    PEFSGHSLEL AAALRTGCIP DVQADEDALA QQFEQPDPAR RWREGVVKSS 450
    FTYLLLDPRE TQDLPARAFS LTPAERLQTF IRAIFYVGKG TRARPYVHLW 500
    EALGHHGRSR KQPHQACPKV RQILDIWASG CGVVSLHCFQ HVVAVEAYTR 550
    EACIVEALGI QTLTNQKQGH CYGVVAGWPP ARRRRLGVHL LHRALLVFLA 600
    EGERQLHPQD IQARG 615

    Note: No experimental confirmation available.

    Length:615
    Mass (Da):66,890
    Last modified:October 5, 2010 - v2
    Checksum:i5889866143933668
    GO
    Isoform 2 (identifier: Q8NAG6-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-22: MCSEARLARRLRDALREEEPWA → MRCGRRSR
         374-399: Missing.

    Show »
    Length:575
    Mass (Da):62,255
    Checksum:iDDBB792FD87FA8EA
    GO

    Sequence cautioni

    The sequence BAC04840.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti444 – 4441E → G in BAC03953. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311A → T.1 Publication
    Corresponds to variant rs8100241 [ dbSNP | Ensembl ].
    VAR_063681
    Natural varianti71 – 711A → V.2 Publications
    Corresponds to variant rs1864116 [ dbSNP | Ensembl ].
    VAR_063682
    Natural varianti94 – 941L → Q.1 Publication
    Corresponds to variant rs8108174 [ dbSNP | Ensembl ].
    VAR_033507
    Natural varianti160 – 1601P → S.
    Corresponds to variant rs59119993 [ dbSNP | Ensembl ].
    VAR_061015
    Natural varianti184 – 1841L → W.1 Publication
    Corresponds to variant rs2363956 [ dbSNP | Ensembl ].
    VAR_033508
    Natural varianti311 – 3111T → P.2 Publications
    Corresponds to variant rs891017 [ dbSNP | Ensembl ].
    VAR_033509
    Natural varianti435 – 4351Q → R.2 Publications
    Corresponds to variant rs11086065 [ dbSNP | Ensembl ].
    VAR_033510
    Natural varianti447 – 4471V → M.
    Corresponds to variant rs34112069 [ dbSNP | Ensembl ].
    VAR_033511

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2222MCSEA…EEPWA → MRCGRRSR in isoform 2. 1 PublicationVSP_039879Add
    BLAST
    Alternative sequencei374 – 39926Missing in isoform 2. 1 PublicationVSP_039880Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU184013 mRNA. Translation: ABW73565.1.
    AK092706 mRNA. Translation: BAC03953.1.
    AK096688 mRNA. Translation: BAC04840.1. Different initiation.
    AC010463 Genomic DNA. No translation available.
    RefSeqiNP_001265372.1. NM_001278443.1.
    NP_001265374.1. NM_001278445.1.
    NP_689576.5. NM_152363.5.
    UniGeneiHs.721610.

    Genome annotation databases

    EnsembliENST00000394458; ENSP00000377971; ENSG00000160117. [Q8NAG6-2]
    GeneIDi126549.
    KEGGihsa:126549.
    UCSCiuc002nfz.2. human. [Q8NAG6-2]

    Polymorphism databases

    DMDMi308153409.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU184013 mRNA. Translation: ABW73565.1 .
    AK092706 mRNA. Translation: BAC03953.1 .
    AK096688 mRNA. Translation: BAC04840.1 . Different initiation.
    AC010463 Genomic DNA. No translation available.
    RefSeqi NP_001265372.1. NM_001278443.1.
    NP_001265374.1. NM_001278445.1.
    NP_689576.5. NM_152363.5.
    UniGenei Hs.721610.

    3D structure databases

    ProteinModelPortali Q8NAG6.
    SMRi Q8NAG6. Positions 23-129.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126001. 2 interactions.
    STRINGi 9606.ENSP00000384753.

    PTM databases

    PhosphoSitei Q8NAG6.

    Polymorphism databases

    DMDMi 308153409.

    Proteomic databases

    PaxDbi Q8NAG6.
    PRIDEi Q8NAG6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000394458 ; ENSP00000377971 ; ENSG00000160117 . [Q8NAG6-2 ]
    GeneIDi 126549.
    KEGGi hsa:126549.
    UCSCi uc002nfz.2. human. [Q8NAG6-2 ]

    Organism-specific databases

    CTDi 126549.
    GeneCardsi GC19P017470.
    HGNCi HGNC:26812. ANKLE1.
    HPAi HPA026789.
    neXtProti NX_Q8NAG6.
    PharmGKBi PA162376509.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG137615.
    HOGENOMi HOG000015588.
    HOVERGENi HBG079451.
    OMAi DAHLWEA.
    OrthoDBi EOG7ZWD3N.
    PhylomeDBi Q8NAG6.
    TreeFami TF319333.

    Miscellaneous databases

    GenomeRNAii 126549.
    NextBioi 81850.
    PROi Q8NAG6.

    Gene expression databases

    ArrayExpressi Q8NAG6.
    Bgeei Q8NAG6.
    Genevestigatori Q8NAG6.

    Family and domain databases

    Gene3Di 1.10.720.40. 1 hit.
    1.25.40.20. 1 hit.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR000305. GIY-YIG_SF.
    IPR011015. LEM/LEM-like_dom.
    IPR003887. LEM_dom.
    [Graphical view ]
    Pfami PF12796. Ank_2. 1 hit.
    PF03020. LEM. 1 hit.
    [Graphical view ]
    SMARTi SM00248. ANK. 3 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    SSF63451. SSF63451. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    PS50164. GIY_YIG. 1 hit.
    PS50954. LEM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "LEM3 is a novel LEM-domain containing protein."
      Brachner A., Foisner R., Gotzmann J.
      Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-31; VAL-71; GLN-94; TRP-184; PRO-311 AND ARG-435.
    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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 253-615 (ISOFORM 1), VARIANTS VAL-71; PRO-311 AND ARG-435.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiANKL1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NAG6
    Secondary accession number(s): A8VU82, Q8N8J8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: October 5, 2010
    Last modified: October 1, 2014
    This is version 84 of the entry and version 2 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 19
      Human chromosome 19: 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