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O43313

- ATMIN_HUMAN

UniProt

O43313 - ATMIN_HUMAN

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Protein

ATM interactor

Gene

ATMIN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. 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
Complete GO annotation...

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
Complete GO annotation...

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

MaxQBiO43313.
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

BgeeiO43313.
CleanExiHS_ATMIN.
ExpressionAtlasiO43313. baseline and differential.
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

BioGridi116892. 3 interactions.
IntActiO43313. 1 interaction.
MINTiMINT-4979558.
STRINGi9606.ENSP00000299575.

Structurei

3D structure databases

ProteinModelPortaliO43313.
SMRiO43313. Positions 86-217.
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.
GeneTreeiENSGT00390000013091.
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

        10         20         30         40         50
MAASEAAAAA GSAALAAGAR AVPAATTGAA AAASGPWVPP GPRLRGSRPR
60 70 80 90 100
PAGATQQPAV PAPPAGELIQ PSVSELSRAV RTNILCTVRG CGKILPNSPA
110 120 130 140 150
LNMHLVKSHR LQDGIVNPTI RKDLKTGPKF YCCPIEGCPR GPERPFSQFS
160 170 180 190 200
LVKQHFMKMH AEKKHKCSKC SNSYGTEWDL KRHAEDCGKT FRCTCGCPYA
210 220 230 240 250
SRTALQSHIY RTGHEIPAEH RDPPSKKRKM ENCAQNQKLS NKTIESLNNQ
260 270 280 290 300
PIPRPDTQEL EASEIKLEPS FEDSCGSNTD KQTLTTPPRY PQKLLLPKPK
310 320 330 340 350
VALVKLPVMQ FSVMPVFVPT ADSSAQPVVL GVDQGSATGA VHLMPLSVGT
360 370 380 390 400
LILGLDSEAC SLKESLPLFK IANPIAGEPI STGVQVNFGK SPSNPLQELG
410 420 430 440 450
NTCQKNSISS INVQTDLSYA SQNFIPSAQW ATADSSVSSC SQTDLSFDSQ
460 470 480 490 500
VSLPISVHTQ TFLPSSKVTS SIAAQTDAFM DTCFQSGGVS RETQTSGIES
510 520 530 540 550
PTDDHVQMDQ AGMCGDIFES VHSSYNVATG NIISNSLVAE TVTHSLLPQN
560 570 580 590 600
EPKTLNQDIE KSAPIINFSA QNSMLPSQNM TDNQTQTIDL LSDLENILSS
610 620 630 640 650
NLPAQTLDHR SLLSDTNPGP DTQLPSGPAQ NPGIDFDIEE FFSASNIQTQ
660 670 680 690 700
TEESELSTMT TEPVLESLDI ETQTDFLLAD TSAQSYGCRG NSNFLGLEMF
710 720 730 740 750
DTQTQTDLNF FLDSSPHLPL GSILKHSSFS VSTDSSDTET QTEGVSTAKN
760 770 780 790 800
IPALESKVQL NSTETQTMSS GFETLGSLFF TSNETQTAMD DFLLADLAWN
810 820
TMESQFSSVE TQTSAEPHTV SNF
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]
CCDS73917.1. [O43313-2]
PIRiT00061.
RefSeqiNP_056066.2. NM_015251.2. [O43313-1]
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 ]
CCDS73917.1. [O43313-2 ]
PIRi T00061.
RefSeqi NP_056066.2. NM_015251.2. [O43313-1 ]
UniGenei Hs.16349.
Hs.589959.

3D structure databases

ProteinModelPortali O43313.
SMRi O43313. Positions 86-217.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116892. 3 interactions.
IntActi O43313. 1 interaction.
MINTi MINT-4979558.
STRINGi 9606.ENSP00000299575.

PTM databases

PhosphoSitei O43313.

Proteomic databases

MaxQBi O43313.
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.
GeneTreei ENSGT00390000013091.
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

Bgeei O43313.
CleanExi HS_ATMIN.
ExpressionAtlasi O43313. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 120 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