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Q5T6C5

- AT7L2_HUMAN

UniProt

Q5T6C5 - AT7L2_HUMAN

Protein

Ataxin-7-like protein 2

Gene

ATXN7L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 1 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ataxin-7-like protein 2
    Gene namesi
    Name:ATXN7L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28713. ATXN7L2.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134927530.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 722722Ataxin-7-like protein 2PRO_0000278300Add
    BLAST

    Proteomic databases

    MaxQBiQ5T6C5.
    PaxDbiQ5T6C5.
    PRIDEiQ5T6C5.

    PTM databases

    PhosphoSiteiQ5T6C5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5T6C5.
    BgeeiQ5T6C5.
    CleanExiHS_ATXN7L2.
    GenevestigatoriQ5T6C5.

    Organism-specific databases

    HPAiHPA029827.
    HPA054952.

    Interactioni

    Protein-protein interaction databases

    BioGridi126028. 5 interactions.
    IntActiQ5T6C5. 5 interactions.
    MINTiMINT-2860321.
    STRINGi9606.ENSP00000358886.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5T6C5.
    SMRiQ5T6C5. Positions 235-293.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini230 – 29768SCA7PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SCA7 domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG259256.
    HOGENOMiHOG000294165.
    HOVERGENiHBG058380.
    InParanoidiQ5T6C5.
    KOiK11318.
    OMAiTLKSKAH.
    OrthoDBiEOG7XSTDP.
    PhylomeDBiQ5T6C5.
    TreeFamiTF331337.

    Family and domain databases

    InterProiIPR013243. SCA7_dom.
    [Graphical view]
    PfamiPF08313. SCA7. 1 hit.
    [Graphical view]
    PROSITEiPS51505. SCA7. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q5T6C5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVRERAAAA MAALERRVPS LDDFAGQSWS SWVERADLPA ADGAELEESS    50
    KNTKKLDAMT LIKEDMSIFG HCPAHDDFYL VVCNHCSQVV KPQAFQKHCE 100
    RRHGPLSKLY GRAPPPPPAP ASSQKCHVVN GQGPACRAPG STKTSSREKG 150
    QGSRSRGHQP PEKTQKDNLC QPGGLTKDSP GKPPMAPPSK EPPGRENIEI 200
    IPSEGSSHWA EGSPPEKEPS GTRLPPKTHR KMARKECDLN RQCGVINPET 250
    KKICTRLLTC KIHSVHQRRE VQGRAKDFDV LVAELKANSR KGESPKEKSP 300
    GRKEQVLERP SQELPSSVQV VAAVAAPSST FSVRAKQTYP YCALPRSRAS 350
    SESELDDEGP CGGDGDPGLF PFPMPRGGTQ ASSEESEEEG TSDDLHPPPD 400
    CHYATRPPRP QAFCTFGSRL VSPGCYVFSR RLDRFCSALS SMLERHLSTH 450
    MWKKIPPAAE PPAHLVNSPL SAPLSPSSTG TCPRLPGPTL RPACPASMPP 500
    TKDNLVPSYP AGSPSVAAAC SQAECMGGSQ AITSPLPANT PSPSFSKLPP 550
    SKASKSSKGK DGVEVEAPSR KRKLSPGPTT LKRTCILEPT GKGKPSGCRG 600
    LSAKTKTALS MGLNGTMGPR VKRAGPLDCR GSPHQLPTPV KASQLENRGA 650
    AGHPAKALPT NCLSEEEVAK KRKNLATYCR PVKAKHCQAG APADVACSVR 700
    RKKPGPALAF EEKCSTLKSK AH 722
    Length:722
    Mass (Da):77,181
    Last modified:December 21, 2004 - v1
    Checksum:iEAEF2D380B475A8D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti495 – 4951P → S.
    Corresponds to variant rs1149172 [ dbSNP | Ensembl ].
    VAR_053780

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL355145 Genomic DNA. Translation: CAI22937.1.
    CCDSiCCDS30794.1.
    RefSeqiNP_699171.3. NM_153340.4.
    UniGeneiHs.118248.

    Genome annotation databases

    EnsembliENST00000369870; ENSP00000358886; ENSG00000162650.
    GeneIDi127002.
    KEGGihsa:127002.
    UCSCiuc001dxr.3. human.

    Polymorphism databases

    DMDMi74745198.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL355145 Genomic DNA. Translation: CAI22937.1 .
    CCDSi CCDS30794.1.
    RefSeqi NP_699171.3. NM_153340.4.
    UniGenei Hs.118248.

    3D structure databases

    ProteinModelPortali Q5T6C5.
    SMRi Q5T6C5. Positions 235-293.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126028. 5 interactions.
    IntActi Q5T6C5. 5 interactions.
    MINTi MINT-2860321.
    STRINGi 9606.ENSP00000358886.

    PTM databases

    PhosphoSitei Q5T6C5.

    Polymorphism databases

    DMDMi 74745198.

    Proteomic databases

    MaxQBi Q5T6C5.
    PaxDbi Q5T6C5.
    PRIDEi Q5T6C5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369870 ; ENSP00000358886 ; ENSG00000162650 .
    GeneIDi 127002.
    KEGGi hsa:127002.
    UCSCi uc001dxr.3. human.

    Organism-specific databases

    CTDi 127002.
    GeneCardsi GC01P110026.
    HGNCi HGNC:28713. ATXN7L2.
    HPAi HPA029827.
    HPA054952.
    neXtProti NX_Q5T6C5.
    PharmGKBi PA134927530.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259256.
    HOGENOMi HOG000294165.
    HOVERGENi HBG058380.
    InParanoidi Q5T6C5.
    KOi K11318.
    OMAi TLKSKAH.
    OrthoDBi EOG7XSTDP.
    PhylomeDBi Q5T6C5.
    TreeFami TF331337.

    Miscellaneous databases

    GenomeRNAii 127002.
    NextBioi 81975.
    PROi Q5T6C5.

    Gene expression databases

    ArrayExpressi Q5T6C5.
    Bgeei Q5T6C5.
    CleanExi HS_ATXN7L2.
    Genevestigatori Q5T6C5.

    Family and domain databases

    InterProi IPR013243. SCA7_dom.
    [Graphical view ]
    Pfami PF08313. SCA7. 1 hit.
    [Graphical view ]
    PROSITEi PS51505. SCA7. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiAT7L2_HUMAN
    AccessioniPrimary (citable) accession number: Q5T6C5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 20, 2007
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 68 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 1
      Human chromosome 1: 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