Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O43313

- ATMIN_HUMAN

UniProt

O43313 - ATMIN_HUMAN

Protein

ATM interactor

Gene

ATMIN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.3 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri84 – 10926C2H2-type 1Add
    BLAST
    Zinc fingeri165 – 18420C2H2-type 2; degenerateAdd
    BLAST

    GO - Molecular functioni

    1. dynein binding Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. protein binding Source: IntAct
    4. transcription regulatory region DNA binding Source: Ensembl

    GO - Biological processi

    1. cellular response to DNA damage stimulus Source: UniProtKB-KW
    2. positive regulation of transcription, DNA-templated Source: UniProtKB
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    DNA damage, Transcription, Transcription regulation

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATM interactor
    Alternative name(s):
    ATM/ATR-substrate CHK2-interacting zinc finger protein
    Short name:
    ASCIZ
    Zinc finger protein 822
    Gene namesi
    Name:ATMIN
    Synonyms:KIAA0431, ZNF822
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:29034. ATMIN.

    Subcellular locationi

    Nucleus 2 Publications
    Note: Nuclear, in discrete foci during G1 phase.

    GO - Cellular componenti

    1. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162377191.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 823823ATM interactorPRO_0000050756Add
    BLAST

    Proteomic databases

    PaxDbiO43313.
    PRIDEiO43313.

    PTM databases

    PhosphoSiteiO43313.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiO43313.
    BgeeiO43313.
    CleanExiHS_ATMIN.
    GenevestigatoriO43313.

    Organism-specific databases

    HPAiHPA054967.

    Interactioni

    Subunit structurei

    Interacts via its C-terminus with ATM. Interacts with DYNLL1; this interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of its own promoter by ATMIN.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATMQ133155EBI-7422202,EBI-495465

    Protein-protein interaction databases

    IntActiO43313. 1 interaction.
    MINTiMINT-4979558.
    STRINGi9606.ENSP00000299575.

    Structurei

    3D structure databases

    ProteinModelPortaliO43313.
    SMRiO43313. Positions 82-217.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni223 – 442220Required for formation of RAD51 fociAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 3332Ala-richAdd
    BLAST

    Sequence similaritiesi

    Contains 2 C2H2-type zinc fingers.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri84 – 10926C2H2-type 1Add
    BLAST
    Zinc fingeri165 – 18420C2H2-type 2; degenerateAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG331143.
    HOGENOMiHOG000034178.
    HOVERGENiHBG106238.
    InParanoidiO43313.
    OMAiNSPALNM.
    OrthoDBiEOG77126X.
    PhylomeDBiO43313.
    TreeFamiTF331171.

    Family and domain databases

    InterProiIPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 4 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43313-1) [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

    MAASEAAAAA GSAALAAGAR AVPAATTGAA AAASGPWVPP GPRLRGSRPR    50
    PAGATQQPAV PAPPAGELIQ PSVSELSRAV RTNILCTVRG CGKILPNSPA 100
    LNMHLVKSHR LQDGIVNPTI RKDLKTGPKF YCCPIEGCPR GPERPFSQFS 150
    LVKQHFMKMH AEKKHKCSKC SNSYGTEWDL KRHAEDCGKT FRCTCGCPYA 200
    SRTALQSHIY RTGHEIPAEH RDPPSKKRKM ENCAQNQKLS NKTIESLNNQ 250
    PIPRPDTQEL EASEIKLEPS FEDSCGSNTD KQTLTTPPRY PQKLLLPKPK 300
    VALVKLPVMQ FSVMPVFVPT ADSSAQPVVL GVDQGSATGA VHLMPLSVGT 350
    LILGLDSEAC SLKESLPLFK IANPIAGEPI STGVQVNFGK SPSNPLQELG 400
    NTCQKNSISS INVQTDLSYA SQNFIPSAQW ATADSSVSSC SQTDLSFDSQ 450
    VSLPISVHTQ TFLPSSKVTS SIAAQTDAFM DTCFQSGGVS RETQTSGIES 500
    PTDDHVQMDQ AGMCGDIFES VHSSYNVATG NIISNSLVAE TVTHSLLPQN 550
    EPKTLNQDIE KSAPIINFSA QNSMLPSQNM TDNQTQTIDL LSDLENILSS 600
    NLPAQTLDHR SLLSDTNPGP DTQLPSGPAQ NPGIDFDIEE FFSASNIQTQ 650
    TEESELSTMT TEPVLESLDI ETQTDFLLAD TSAQSYGCRG NSNFLGLEMF 700
    DTQTQTDLNF FLDSSPHLPL GSILKHSSFS VSTDSSDTET QTEGVSTAKN 750
    IPALESKVQL NSTETQTMSS GFETLGSLFF TSNETQTAMD DFLLADLAWN 800
    TMESQFSSVE TQTSAEPHTV SNF 823
    Length:823
    Mass (Da):88,348
    Last modified:November 25, 2008 - v2
    Checksum:i59CDBD56381539E9
    GO
    Isoform 2 (identifier: O43313-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-156: Missing.

    Show »
    Length:667
    Mass (Da):72,334
    Checksum:iE23D09D9C4F60210
    GO

    Sequence cautioni

    The sequence BAA24861.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAF83632.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti174 – 1741Y → C in CAH18291. (PubMed:17974005)Curated
    Sequence conflicti309 – 3091M → V in BAF83632. (PubMed:14702039)Curated
    Sequence conflicti338 – 3381T → A in CAH18291. (PubMed:17974005)Curated
    Sequence conflicti433 – 4331A → T in CAH18291. (PubMed:17974005)Curated
    Sequence conflicti474 – 4741A → P in CAH18291. (PubMed:17974005)Curated
    Sequence conflicti525 – 5251Y → H in CAH18291. (PubMed:17974005)Curated
    Sequence conflicti703 – 7031Q → R in BAF83632. (PubMed:14702039)Curated
    Sequence conflicti814 – 8141S → P in CAH18291. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti240 – 2401S → P.
    Corresponds to variant rs2278022 [ dbSNP | Ensembl ].
    VAR_050681
    Natural varianti305 – 3051K → E.
    Corresponds to variant rs2278023 [ dbSNP | Ensembl ].
    VAR_050682

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 156156Missing in isoform 2. 2 PublicationsVSP_035820Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB007891 mRNA. Translation: BAA24861.2. Different initiation.
    CR749457 mRNA. Translation: CAH18291.1.
    AC092718 Genomic DNA. No translation available.
    BC002701 mRNA. Translation: AAH02701.2.
    AK290943 mRNA. Translation: BAF83632.1. Different initiation.
    CCDSiCCDS32494.1. [O43313-1]
    PIRiT00061.
    RefSeqiNP_056066.2. NM_015251.2. [O43313-1]
    XP_005255923.1. XM_005255866.1. [O43313-2]
    UniGeneiHs.16349.
    Hs.589959.

    Genome annotation databases

    EnsembliENST00000299575; ENSP00000299575; ENSG00000166454. [O43313-1]
    ENST00000564241; ENSP00000463478; ENSG00000166454. [O43313-2]
    ENST00000566488; ENSP00000455497; ENSG00000166454. [O43313-2]
    GeneIDi23300.
    KEGGihsa:23300.
    UCSCiuc002ffz.1. human. [O43313-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB007891 mRNA. Translation: BAA24861.2 . Different initiation.
    CR749457 mRNA. Translation: CAH18291.1 .
    AC092718 Genomic DNA. No translation available.
    BC002701 mRNA. Translation: AAH02701.2 .
    AK290943 mRNA. Translation: BAF83632.1 . Different initiation.
    CCDSi CCDS32494.1. [O43313-1 ]
    PIRi T00061.
    RefSeqi NP_056066.2. NM_015251.2. [O43313-1 ]
    XP_005255923.1. XM_005255866.1. [O43313-2 ]
    UniGenei Hs.16349.
    Hs.589959.

    3D structure databases

    ProteinModelPortali O43313.
    SMRi O43313. Positions 82-217.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi O43313. 1 interaction.
    MINTi MINT-4979558.
    STRINGi 9606.ENSP00000299575.

    PTM databases

    PhosphoSitei O43313.

    Proteomic databases

    PaxDbi O43313.
    PRIDEi O43313.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299575 ; ENSP00000299575 ; ENSG00000166454 . [O43313-1 ]
    ENST00000564241 ; ENSP00000463478 ; ENSG00000166454 . [O43313-2 ]
    ENST00000566488 ; ENSP00000455497 ; ENSG00000166454 . [O43313-2 ]
    GeneIDi 23300.
    KEGGi hsa:23300.
    UCSCi uc002ffz.1. human. [O43313-1 ]

    Organism-specific databases

    CTDi 23300.
    GeneCardsi GC16P081069.
    HGNCi HGNC:29034. ATMIN.
    HPAi HPA054967.
    MIMi 614693. gene.
    neXtProti NX_O43313.
    PharmGKBi PA162377191.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG331143.
    HOGENOMi HOG000034178.
    HOVERGENi HBG106238.
    InParanoidi O43313.
    OMAi NSPALNM.
    OrthoDBi EOG77126X.
    PhylomeDBi O43313.
    TreeFami TF331171.

    Miscellaneous databases

    ChiTaRSi ATMIN. human.
    GenomeRNAii 23300.
    NextBioi 45134.
    PROi O43313.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43313.
    Bgeei O43313.
    CleanExi HS_ATMIN.
    Genevestigatori O43313.

    Family and domain databases

    InterProi IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 4 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
      Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Liver.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [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] OF 56-823 (ISOFORM 1).
      Tissue: Uterus.
    5. "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] OF 67-823 (ISOFORM 1).
      Tissue: Teratocarcinoma.
    6. "ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage."
      McNees C.J., Conlan L.A., Tenis N., Heierhorst J.
      EMBO J. 24:2447-2457(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, REGION.
    7. "ATMIN defines an NBS1-independent pathway of ATM signalling."
      Kanu N., Behrens A.
      EMBO J. 26:2933-2941(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH ATM, SUBCELLULAR LOCATION.
    8. "ATM substrate Chk2-interacting Zn2+ finger (ASCIZ) Is a bi-functional transcriptional activator and feedback sensor in the regulation of dynein light chain (DYNLL1) expression."
      Jurado S., Conlan L.A., Baker E.K., Ng J.L., Tenis N., Hoch N.C., Gleeson K., Smeets M., Izon D., Heierhorst J.
      J. Biol. Chem. 287:3156-3164(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DYNLL1.

    Entry informationi

    Entry nameiATMIN_HUMAN
    AccessioniPrimary (citable) accession number: O43313
    Secondary accession number(s): A8K4H8, Q68DC9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 119 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 16
      Human chromosome 16: 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