ATIC

Identity

Other names	PURH
	AICARFT/IMPCHASE (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
	AICARFT
	IMPCHASE
HGNC	ATIC
Location	2q35
	ATIC (2p35) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Transcription

1776 bp mRNA; transcribed in a centromeric to telomeric orientation

Protein

Description	591 amino acids, 64 kDa; two functional domains separated by a linker region with a dimerization domain (amino acids 170 to 199): amino acids 1 to 169 encode the IMP cyclohydrolase (IMPCH) function, and amino acids 200 to 591 encode the 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICARFT) function; homodimer
Expression	wide
Function	bifunctional purine biosythesis:9th and 10th step of the de novo purine synthesis
Homology	belongs to the PURH family

Implicated in

Entity	inv(2)(p23q35) --> ATIC- ALK
Disease	found in rare cases of ALK+ anaplasic large cell lymphoma
Cytogenetics	hidden translocation most often
Hybrid/Mutated Gene	5' ATIC - 3' ALK
Abnormal Protein	791 amino acids, 87 kDa. 229 N-term amino acid from ATIC containing the IMPCH domain and the dimerization domain fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); cytoplasmic localisation only.
Oncogenesis	ATIC seems to provoke the dimerization of ATIC-ALK, which should lead to constitutive autophosphorylation and activation of the ALK tyrosine kinase, as for NPM1-ALK (see t(2;5)(p23;q35) ).

External links

	Nomenclature
HGNC	ATIC   794
Entrez_Gene	ATIC  471  5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
	Cards
Atlas	ATICID227
GeneCards	ATIC
Ensembl	ATIC [Search_View]   ENSG00000138363 [Gene_View]
Genatlas	ATIC
GeneLynx	ATIC
eGenome	ATIC
euGene	471
	Genomic and cartography
GoldenPath	ATIC  -  2q35   chr2:215884937-215922724 +  2q35   [Description]    (hg18-Mar_2006)
Ensembl	ATIC - 2q35 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ATIC
	Gene and transcription
Genbank	AB062403 [ ENTREZ ]
Genbank	AK290067 [ ENTREZ ]
Genbank	AK313066 [ ENTREZ ]
Genbank	BC008879 [ ENTREZ ]
Genbank	CR594366 [ ENTREZ ]
RefSeq	NM_004044 [ SRS ]    NM_004044 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	AC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NT_005403 [ SRS ]    NT_005403 [ ENTREZ ]
RefSeq	NW_001838863 [ SRS ]    NW_001838863 [ ENTREZ ]
RefSeq	NW_921618 [ SRS ]    NW_921618 [ ENTREZ ]
AceView	ATIC AceView - NCBI
Unigene	Hs.90280 [ SRS ]    Hs.90280 [ NCBI ]     HS90280 [ spliceNest ]
Fast-db	14937 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P31939 [ SRS]    P31939 [ EXPASY ]     P31939 [ INTERPRO ]     P31939 [ UNIPROT ]
Interpro	IPR002695 AICARFT_IMPCHas [ SRS ]    IPR002695 AICARFT_IMPCHas [ EBI ]
Interpro	IPR013982 AICARFT_IMPCHas_formly [ SRS ]    IPR013982 AICARFT_IMPCHas_formly [ EBI ]
Interpro	IPR011607 MGS [ SRS ]    IPR011607 MGS [ EBI ]
CluSTr	P31939
Pfam	PF01808 AICARFT_IMPCHas [ SRS ]    PF01808 AICARFT_IMPCHas [ Sanger ]    pfam01808 [ NCBI-CDD ]
Pfam	PF02142 MGS [ SRS ]    PF02142 MGS [ Sanger ]    pfam02142 [ NCBI-CDD ]
Smart	SM00798 AICARFT_IMPCHas [EMBL]
Blocks	P31939
PDB	1P4R [ SRS ]    1P4R [ PdbSum ],   1P4R [ IMB ]   1P4R [ RSDB ]
PDB	1PKX [ SRS ]    1PKX [ PdbSum ],   1PKX [ IMB ]   1PKX [ RSDB ]
PDB	1PL0 [ SRS ]    1PL0 [ PdbSum ],   1PL0 [ IMB ]   1PL0 [ RSDB ]
HPRD	03434
	Protein Interaction databases
DIP	P31939
IntAct	P31939
	Polymorphism : SNP, mutations, diseases
OMIM	601731;608688    [ map ]
GENECLINICS	601731;608688
SNP	ATIC [dbSNP-NCBI]
SNP	NM_004044 [SNP-NCI]
SNP	ATIC [GeneSNPs - Utah]  ATIC] [HGBASE - SRS]
HAPMAP	ATIC [HAPMAP]
COSMIC	ATIC [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	ATIC [Translocation breakpoints In Cancer]
HGMD	ATIC
	General knowledge
Family Browser	ATIC [UCSC Family Browser]
SOURCE	NM_004044
SMD	Hs.90280
SAGE	Hs.90280
Enzyme	2.1.2.3 [ Enzyme-Expasy ]   2.1.2.3 [ Enzyme-SRS ]   2.1.2.3 [ IntEnz-EBI ]   2.1.2.3 [ BRENDA ]   2.1.2.3 [ KEGG ]   2.1.2.3 [ WIT ]
GO	IMP cyclohydrolase activity [Amigo]  IMP cyclohydrolase activity
GO	phosphoribosylaminoimidazolecarboxamide formyltransferase activity [Amigo]  phosphoribosylaminoimidazolecarboxamide formyltransferase activity
GO	protein binding [Amigo]  protein binding
GO	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process [Amigo]  nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
GO	purine nucleotide biosynthetic process [Amigo]  purine nucleotide biosynthetic process
GO	IMP biosynthetic process [Amigo]  IMP biosynthetic process
GO	transferase activity [Amigo]  transferase activity
GO	hydrolase activity [Amigo]  hydrolase activity
GO	organ regeneration [Amigo]  organ regeneration
KEGG	Purine metabolism
KEGG	One carbon pool by folate
PubGene	ATIC
TreeFam	ATIC
CTD	471 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	ATIC Related clones (RZPD - Berlin)
	PubMed
PubMed	23 Pubmed reference(s) in LocusLink

Bibliography

The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping.

Rayl EA, Moroson BA, Beardsley GP

The Journal of biological chemistry. 1996 ; 271 (4) : 2225-2233.

PMID 8567683

Characterization of molecularly cloned human 5-aminoimidazole-4-carboxamide ribonucleotide transformylase.

Sugita T, Aya H, Ueno M, Ishizuka T, Kawashima K

Journal of biochemistry. 1997 ; 122 (2) : 309-313.

PMID 9378707

Structure and functional relationships in human pur H.

Beardsley GP, Rayl EA, Gunn K, Moroson BA, Seow H, Anderson KS, Vergis J, Fleming K, Worland S, Condon B, Davies J

Advances in experimental medicine and biology. 1998 ; 431 : 221-226.

PMID 9598063

ATIC-ALK: A novel variant ALK gene fusion in anaplastic large cell lymphoma resulting from the recurrent cryptic chromosomal inversion, inv(2)(p23q35).

Colleoni GW, Bridge JA, Garicochea B, Liu J, Filippa DA, Ladanyi M

The American journal of pathology. 2000 ; 156 (3) : 781-789.

PMID 10702393

Inv(2)(p23q35) in anaplastic large-cell lymphoma induces constitutive anaplastic lymphoma kinase (ALK) tyrosine kinase activation by fusion to ATIC, an enzyme involved in purine nucleotide biosynthesis.

Ma Z, Cools J, Marynen P, Cui X, Siebert R, Gesk S, Schlegelberger B, Peeters B, De Wolf-Peeters C, Wlodarska I, Morris SW

Blood. 2000 ; 95 (6) : 2144-2149.

PMID 10706887

CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features.

Stein H, Foss HD, Dˆºrkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B

Blood. 2000 ; 96 (12) : 3681-3695.

PMID 11090048

A new variant anaplastic lymphoma kinase (ALK)-fusion protein (ATIC-ALK) in a case of ALK-positive anaplastic large cell lymphoma.

Trinei M, Lanfrancone L, Campo E, Pulford K, Mason DY, Pelicci PG, Falini B

Cancer research. 2000 ; 60 (4) : 793-798.

PMID 10706082

Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas.

Drexler HG, Gignac SM, von Wasielewski R, Werner M, Dirks WG

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1533-1559.

PMID 10994999

Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma.

Morris SW, Xue L, Ma Z, Kinney MC

British journal of haematology. 2001 ; 113 (2) : 275-295.

PMID 11380391

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	08-2001	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . ATIC. Atlas Genet Cytogenet Oncol Haematol. August 2001 . URL : http://AtlasGeneticsOncology.org/Genes/ATICID227.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:12:16 2008