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O43313 (ATMIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATM interactor
Alternative name(s):
ATM/ATR-substrate CHK2-interacting zinc finger protein
Short name=ASCIZ
Zinc finger protein 822
Gene names
Name:ATMIN
Synonyms:KIAA0431, ZNF822
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length823 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7 Ref.8

Subunit structure

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. Ref.7 Ref.8

Subcellular location

Nucleus. Note: Nuclear, in discrete foci during G1 phase. Ref.6 Ref.7

Tissue specificity

Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle. Ref.6

Sequence similarities

Contains 2 C2H2-type zinc fingers.

Sequence caution

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ATMQ133155EBI-7422202,EBI-495465

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43313-1)

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.
Isoform 2 (identifier: O43313-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 823823ATM interactor
PRO_0000050756

Regions

Zinc finger84 – 10926C2H2-type 1
Zinc finger165 – 18420C2H2-type 2; degenerate
Region223 – 442220Required for formation of RAD51 foci
Compositional bias2 – 3332Ala-rich

Natural variations

Alternative sequence1 – 156156Missing in isoform 2.
VSP_035820
Natural variant2401S → P.
Corresponds to variant rs2278022 [ dbSNP | Ensembl ].
VAR_050681
Natural variant3051K → E.
Corresponds to variant rs2278023 [ dbSNP | Ensembl ].
VAR_050682

Experimental info

Sequence conflict1741Y → C in CAH18291. Ref.2
Sequence conflict3091M → V in BAF83632. Ref.5
Sequence conflict3381T → A in CAH18291. Ref.2
Sequence conflict4331A → T in CAH18291. Ref.2
Sequence conflict4741A → P in CAH18291. Ref.2
Sequence conflict5251Y → H in CAH18291. Ref.2
Sequence conflict7031Q → R in BAF83632. Ref.5
Sequence conflict8141S → P in CAH18291. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 59CDBD56381539E9

FASTA82388,348
        10         20         30         40         50         60 
MAASEAAAAA GSAALAAGAR AVPAATTGAA AAASGPWVPP GPRLRGSRPR PAGATQQPAV 

        70         80         90        100        110        120 
PAPPAGELIQ PSVSELSRAV RTNILCTVRG CGKILPNSPA LNMHLVKSHR LQDGIVNPTI 

       130        140        150        160        170        180 
RKDLKTGPKF YCCPIEGCPR GPERPFSQFS LVKQHFMKMH AEKKHKCSKC SNSYGTEWDL 

       190        200        210        220        230        240 
KRHAEDCGKT FRCTCGCPYA SRTALQSHIY RTGHEIPAEH RDPPSKKRKM ENCAQNQKLS 

       250        260        270        280        290        300 
NKTIESLNNQ PIPRPDTQEL EASEIKLEPS FEDSCGSNTD KQTLTTPPRY PQKLLLPKPK 

       310        320        330        340        350        360 
VALVKLPVMQ FSVMPVFVPT ADSSAQPVVL GVDQGSATGA VHLMPLSVGT LILGLDSEAC 

       370        380        390        400        410        420 
SLKESLPLFK IANPIAGEPI STGVQVNFGK SPSNPLQELG NTCQKNSISS INVQTDLSYA 

       430        440        450        460        470        480 
SQNFIPSAQW ATADSSVSSC SQTDLSFDSQ VSLPISVHTQ TFLPSSKVTS SIAAQTDAFM 

       490        500        510        520        530        540 
DTCFQSGGVS RETQTSGIES PTDDHVQMDQ AGMCGDIFES VHSSYNVATG NIISNSLVAE 

       550        560        570        580        590        600 
TVTHSLLPQN EPKTLNQDIE KSAPIINFSA QNSMLPSQNM TDNQTQTIDL LSDLENILSS 

       610        620        630        640        650        660 
NLPAQTLDHR SLLSDTNPGP DTQLPSGPAQ NPGIDFDIEE FFSASNIQTQ TEESELSTMT 

       670        680        690        700        710        720 
TEPVLESLDI ETQTDFLLAD TSAQSYGCRG NSNFLGLEMF DTQTQTDLNF FLDSSPHLPL 

       730        740        750        760        770        780 
GSILKHSSFS VSTDSSDTET QTEGVSTAKN IPALESKVQL NSTETQTMSS GFETLGSLFF 

       790        800        810        820 
TSNETQTAMD DFLLADLAWN TMESQFSSVE TQTSAEPHTV SNF 

« Hide

Isoform 2 [UniParc].

Checksum: E23D09D9C4F60210
Show »

FASTA66772,334

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT00061.
RefSeqNP_056066.2. NM_015251.2.
XP_005255923.1. XM_005255866.1.
UniGeneHs.16349.
Hs.589959.

3D structure databases

ProteinModelPortalO43313.
SMRO43313. Positions 84-211.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActO43313. 1 interaction.
MINTMINT-4979558.
STRING9606.ENSP00000299575.

PTM databases

PhosphoSiteO43313.

Proteomic databases

PaxDbO43313.
PRIDEO43313.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299575; ENSP00000299575; ENSG00000166454. [O43313-1]
ENST00000564241; ENSP00000463478; ENSG00000166454. [O43313-2]
ENST00000566488; ENSP00000455497; ENSG00000166454. [O43313-2]
GeneID23300.
KEGGhsa:23300.
UCSCuc002ffz.1. human. [O43313-1]

Organism-specific databases

CTD23300.
GeneCardsGC16P081069.
HGNCHGNC:29034. ATMIN.
HPAHPA054967.
MIM614693. gene.
neXtProtNX_O43313.
PharmGKBPA162377191.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331143.
HOGENOMHOG000034178.
HOVERGENHBG106238.
InParanoidO43313.
OMANSPALNM.
OrthoDBEOG77126X.
PhylomeDBO43313.
TreeFamTF331171.

Gene expression databases

ArrayExpressO43313.
BgeeO43313.
CleanExHS_ATMIN.
GenevestigatorO43313.

Family and domain databases

InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSATMIN. human.
GenomeRNAi23300.
NextBio45134.
PROO43313.
SOURCESearch...

Entry information

Entry nameATMIN_HUMAN
AccessionPrimary (citable) accession number: O43313
Secondary accession number(s): A8K4H8, Q68DC9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM