O43313 (ATMIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	823 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	DNA damage Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of transcription, DNA-dependent Inferred from direct assay Ref.8. Source: UniProtKB response to DNA damage stimulus Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW transcription regulatory region DNA binding Inferred from electronic annotation. Source: Ensembl
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ATM	Q13315	5	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 823	823	ATM interactor		PRO_0000050756
Regions
	Zinc finger	84 – 109	26	C2H2-type 1
	Zinc finger	165 – 184	20	C2H2-type 2; degenerate
	Region	223 – 442	220	Required for formation of RAD51 foci
	Compositional bias	2 – 33	32	Ala-rich
Natural variations
	Alternative sequence	1 – 156	156	Missing in isoform 2.		VSP_035820
	Natural variant	240	1	S → P. Corresponds to variant rs2278022 [ dbSNP | Ensembl ].		VAR_050681
	Natural variant	305	1	K → E. Corresponds to variant rs2278023 [ dbSNP | Ensembl ].		VAR_050682
Experimental info
	Sequence conflict	174	1	Y → C in CAH18291. Ref.2
	Sequence conflict	309	1	M → V in BAF83632. Ref.5
	Sequence conflict	338	1	T → A in CAH18291. Ref.2
	Sequence conflict	433	1	A → T in CAH18291. Ref.2
	Sequence conflict	474	1	A → P in CAH18291. Ref.2
	Sequence conflict	525	1	Y → H in CAH18291. Ref.2
	Sequence conflict	703	1	Q → R in BAF83632. Ref.5
	Sequence conflict	814	1	S → P in CAH18291. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: 59CDBD56381539E9	FASTA	823	88,348
	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
	Isoform 2 [UniParc]. Checksum: E23D09D9C4F60210	FASTA	667	72,334
	10 20 30 40 50 60 MKMHAEKKHK CSKCSNSYGT EWDLKRHAED CGKTFRCTCG CPYASRTALQ SHIYRTGHEI 70 80 90 100 110 120 PAEHRDPPSK KRKMENCAQN QKLSNKTIES LNNQPIPRPD TQELEASEIK LEPSFEDSCG 130 140 150 160 170 180 SNTDKQTLTT PPRYPQKLLL PKPKVALVKL PVMQFSVMPV FVPTADSSAQ PVVLGVDQGS 190 200 210 220 230 240 ATGAVHLMPL SVGTLILGLD SEACSLKESL PLFKIANPIA GEPISTGVQV NFGKSPSNPL 250 260 270 280 290 300 QELGNTCQKN SISSINVQTD LSYASQNFIP SAQWATADSS VSSCSQTDLS FDSQVSLPIS 310 320 330 340 350 360 VHTQTFLPSS KVTSSIAAQT DAFMDTCFQS GGVSRETQTS GIESPTDDHV QMDQAGMCGD 370 380 390 400 410 420 IFESVHSSYN VATGNIISNS LVAETVTHSL LPQNEPKTLN QDIEKSAPII NFSAQNSMLP 430 440 450 460 470 480 SQNMTDNQTQ TIDLLSDLEN ILSSNLPAQT LDHRSLLSDT NPGPDTQLPS GPAQNPGIDF 490 500 510 520 530 540 DIEEFFSASN IQTQTEESEL STMTTEPVLE SLDIETQTDF LLADTSAQSY GCRGNSNFLG 550 560 570 580 590 600 LEMFDTQTQT DLNFFLDSSP HLPLGSILKH SSFSVSTDSS DTETQTEGVS TAKNIPALES 610 620 630 640 650 660 KVQLNSTETQ TMSSGFETLG SLFFTSNETQ TAMDDFLLAD LAWNTMESQF SSVETQTSAE PHTVSNF

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00401923. IPI00639881.
PIR	T00061.
RefSeq	NP_056066.2. NM_015251.2. XP_005255923.1. XM_005255866.1.
UniGene	Hs.16349. Hs.589959.
3D structure databases
ProteinModelPortal	O43313.
SMR	O43313. Positions 86-168, 184-217.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43313. 1 interaction.
MINT	MINT-4979558.
STRING	9606.ENSP00000299575.
PTM databases
PhosphoSite	O43313.
Proteomic databases
PaxDb	O43313.
PRIDE	O43313.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299575; ENSP00000299575; ENSG00000166454. ENST00000564241; ENSP00000463478; ENSG00000166454. ENST00000566488; ENSP00000455497; ENSG00000166454.
GeneID	23300.
KEGG	hsa:23300.
UCSC	uc002ffz.1. human.
Organism-specific databases
CTD	23300.
GeneCards	GC16P081069.
HGNC	HGNC:29034. ATMIN.
MIM	614693. gene.
neXtProt	NX_O43313.
PharmGKB	PA162377191.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG331143.
HOGENOM	HOG000034178.
HOVERGEN	HBG106238.
InParanoid	O43313.
OMA	NSPALNM.
OrthoDB	EOG77126X.
Gene expression databases
ArrayExpress	O43313.
Bgee	O43313.
CleanEx	HS_ATMIN.
Genevestigator	O43313.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. [Graphical view]
SMART	SM00355. ZnF_C2H2. 4 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 1 hit. PS50157. ZINC_FINGER_C2H2_2. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ATMIN. human.
GenomeRNAi	23300.
NextBio	45134.
PRO	O43313.
SOURCE	Search...

Entry information

Entry name

ATMIN_HUMAN

Accession

Primary (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:	November 13, 2013
This is version 111 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.