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Description:
Aprataxin homolog (Forkhead-associated domain histidine triad-likeprotein) (FHA-HIT).
Molecular weight: 38723
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 )
Important dates:
07-JUN-2004, integrated into UniProtKB/Swiss-Prot.
07-JUN-2004, sequence version 2.
07-FEB-2006, entry version 21.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Glires Rodentia Sciurognathi Muroidea Muridae Murinae Mus.
To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html
Links to references in other databases for protein APTX_MOUSE:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | AY040780 | AAK91771.1 | - |
| EMBL | AY040782 | AAK91773.1 | - |
| EMBL | AY208844 | AAP86334.1 | ALT_INIT |
| EMBL | AK005286 | BAB23933.2.1 | - |
| EMBL | AK010516 | BAB26998.2.1 | - |
| EMBL | AK077351 | BAC36763.1 | - |
| EMBL | AK088928 | BAC40657.1 | - |
| EMBL | BC021872 | AAH21872.1 | ALT_INIT |
| EMBL | BC068309 | AAH68309.1 | - |
| HSSP | P49773 | 1KPF | |
| Ensembl | ENSMUSG00000028411 | Mus musculus.1 | |
| MGI | MGI:1913658 | Aptx.1 | |
| GO | GO:0005654 | C:nucleoplasm | TAS. |
| GO | GO:0046872 | F:metal ion binding | TAS. |
| InterPro | IPR001310 | HIT. | |
| InterPro | IPR007087 | Znf_C2H2. | |
| Pfam | PF01230 | HIT | 1. |
| PROSITE | PS00892 | HIT_1 | 1. |
| PROSITE | PS51084 | HIT_2 | 1. |
| PROSITE | PS00028 | ZINC_FINGER_C2H2_1 | 1. |
| PROSITE | PS50157 | ZINC_FINGER_C2H2_2 | 1. |
Keywords:
Alternative splicing; DNA damage; DNA repair; Metal-binding; Nuclear protein; Zinc; Zinc-finger.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE (ISOFORM 1).
RC STRAIN=BALB/c, and C57BL/6J;
RA Huang C.-H.;
RT "Identification of FHA-HIT as a novel nuclear protein involved in
RT cell-cycle regulation.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE (ISOFORM 1).
RA Chen Y., Huang C.-H.;
RT "Differential polyadenylation of mouse FHA-HIT transcript.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4).
RC STRAIN=C57BL/6J, and NOD;
RC TISSUE=Cerebellum, Embryonic stem cell, Pituitary, and Thymus;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
RA Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
RA Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
RA Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
RA Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
RA Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
RA di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
RA Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
RA Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
RA Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
RA Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
RA Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
RA Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
RA Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
RA Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
RA Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
RA Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
RA Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
RA Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
RA Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schonbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
RA Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
RA Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
RA Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
RA Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
RA Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
RA Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
RA Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
RA Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
RA Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
RA Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
RA Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
RA Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC STRAIN=CD-1; TISSUE=Mammary tumor, and Neural stem cell;
RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT "Generation and initial analysis of more than 15,000 full-length human
RT and mouse cDNA sequences.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=11586300; DOI=10.1038/ng1001-189;
RA Moreira M.-C., Barbot C., Tachi N., Kozuka N., Uchida E., Gibson T.,
RA Mendonca P., Costa M., Barros J., Yanagisawa T., Watanabe M.,
RA Ikeda Y., Aoki M., Nagata T., Coutinho P., Sequeiros J., Koenig M.;
RT "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-
RT finger protein aprataxin.";
RL Nat. Genet. 29:189-193(2001).
Feature:
CHAIN 1 342 Aprataxin homolog.
/FTId=PRO_0000109840.
DOMAIN 30 79 FHA-like.
DOMAIN 168 273 HIT.
ZN_FING 317 339 C2H2-type.
REGION 1 102 Interactions with ADPRT and NCL (By
similarity).
MOTIF 118 122 Nuclear localization signal (By
similarity).
VARSPLIC 1 66 Missing (in isoform 2).
/FTId=VSP_010542.
VARSPLIC 1 7 Missing (in isoform 3 and isoform 4).
/FTId=VSP_010543.
VARSPLIC 67 161 Missing (in isoform 4).
/FTId=VSP_010544.
CONFLICT 86 86 K -> L (in Ref. 4; AAH21872).
CONFLICT 237 237 D -> E (in Ref. 4; AAH21872).
Comments:
-!- FUNCTION: Probably involved in the repair of DNA single-stand
breaks, or in response to DNA single-stand breaks (By similarity).
-!- SUBUNIT: Interacts with single-strand break repair proteins XRCC1,
ADPRT and p53/TP53. Interacts with NCL (By similarity).
-!- SUBCELLULAR LOCATION: Nuclear. Upon genotoxic stress, it
colocalizes with XRCC1 at sites of DNA damage (By similarity).
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=Q7TQC5-1; Sequence=Displayed;
Name=2;
IsoId=Q7TQC5-2; Sequence=VSP_010542;
Name=3;
IsoId=Q7TQC5-3; Sequence=VSP_010543;
Name=4;
IsoId=Q7TQC5-4; Sequence=VSP_010543, VSP_010544;
Note=No experimental confirmation available;
-!- TISSUE SPECIFICITY: Widely expressed. Expressed in heart, liver,
kidney, spleen, lung, muscle, brain stem, spinal cord, cerebellum
and brain.
-!- SIMILARITY: Contains 1 C2H2-type zinc finger.
-!- SIMILARITY: Contains 1 FHA-like domain.
-!- SIMILARITY: Contains 1 HIT domain.
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Sequence length: 342
MPEAVAKMRV CWLVRQDSRH QRIKLPHLEA VVIGRSPETK ITDKKCSRQQ VQLKAECNKG
YVKVQQMGVN PTSIDSGVIG KDQEKKLLPG QVLHMVNGLY PYIVEFEEVA ESPNLTQRKR
KRSDCDSEEM EAESGTGLAP GSSPSQCSVS PKKDKNGATK KESLGHWSQG LKMSMKDPKM
QVYKDDQVVV IKDKYPKARH HWLVLPWASI SSLKVVTSEH LELLKHMHAV GEKVIADFAG
SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN SFNTEYFLES QAVIKMVQEA
GRVTVKDGTC ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW GG