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2025-05-09 18:31:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001146095 2748 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript
variant 3, mRNA.
ACCESSION NM_001146095
VERSION NM_001146095.1 GI:226246526
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2748)
AUTHORS Zhou,W., Otto,E.A., Cluckey,A., Airik,R., Hurd,T.W., Chaki,M.,
Diaz,K., Lach,F.P., Bennett,G.R., Gee,H.Y., Ghosh,A.K.,
Natarajan,S., Thongthip,S., Veturi,U., Allen,S.J., Janssen,S.,
Ramaswami,G., Dixon,J., Burkhalter,F., Spoendlin,M., Moch,H.,
Mihatsch,M.J., Verine,J., Reade,R., Soliman,H., Godin,M., Kiss,D.,
Monga,G., Mazzucco,G., Amann,K., Artunc,F., Newland,R.C., Wiech,T.,
Zschiedrich,S., Huber,T.B., Friedl,A., Slaats,G.G., Joles,J.A.,
Goldschmeding,R., Washburn,J., Giles,R.H., Levy,S., Smogorzewska,A.
and Hildebrandt,F.
TITLE FAN1 mutations cause karyomegalic interstitial nephritis, linking
chronic kidney failure to defective DNA damage repair
JOURNAL Nat. Genet. 44 (8), 910-915 (2012)
PUBMED 22772369
REMARK GeneRIF: By exome sequencing, we identified mutations in FAN1 as a
cause of karyomegalic interstitial nephritis, a disorder that
serves as a model for renal fibrosis.
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 2748)
AUTHORS Trujillo,J.P., Mina,L.B., Pujol,R., Bogliolo,M., Andrieux,J.,
Holder,M., Schuster,B., Schindler,D. and Surralles,J.
TITLE On the role of FAN1 in Fanconi anemia
JOURNAL Blood 120 (1), 86-89 (2012)
PUBMED 22611161
REMARK GeneRIF: Our results suggest that FAN1 has a minor role in
interstrand crosslink repair compared with true Fanconi anemia
genes and exclude FAN1 as a novel FA gene.
REFERENCE 3 (bases 1 to 2748)
AUTHORS Park,D.J., Odefrey,F.A., Hammet,F., Giles,G.G., Baglietto,L.,
ABCFS, MCCS, Hopper,J.L., Schmidt,D.F., Makalic,E.,
Sinilnikova,O.M., Goldgar,D.E. and Southey,M.C.
TITLE FAN1 variants identified in multiple-case early-onset breast cancer
families via exome sequencing: no evidence for association with
risk for breast cancer
JOURNAL Breast Cancer Res. Treat. 130 (3), 1043-1049 (2011)
PUBMED 21858661
REMARK GeneRIF: Two FAN1 variants do not appear to be causal for breast
cancer.
REFERENCE 4 (bases 1 to 2748)
AUTHORS Yoshikiyo,K., Kratz,K., Hirota,K., Nishihara,K., Takata,M.,
Kurumizaka,H., Horimoto,S., Takeda,S. and Jiricny,J.
TITLE KIAA1018/FAN1 nuclease protects cells against genomic instability
induced by interstrand cross-linking agents
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (50), 21553-21557 (2010)
PUBMED 21115814
REMARK GeneRIF: Data show that FAN1 in DT40 cells participates in the
processing of damage induced by interstrand
cross-linking-generating agents also independently of the classical
FA pathway.
REFERENCE 5 (bases 1 to 2748)
AUTHORS Shereda,R.D., Machida,Y. and Machida,Y.J.
TITLE Human KIAA1018/FAN1 localizes to stalled replication forks via its
ubiquitin-binding domain
JOURNAL Cell Cycle 9 (19), 3977-3983 (2010)
PUBMED 20935496
REMARK GeneRIF: Data show that FAN1 is a nuclear protein and forms
DNA-damage-induced foci, which appear to be at stalled replication
forks as denoted by RPA colocalization.
REFERENCE 6 (bases 1 to 2748)
AUTHORS Liu,T., Ghosal,G., Yuan,J., Chen,J. and Huang,J.
TITLE FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link
repair
JOURNAL Science 329 (5992), 693-696 (2010)
PUBMED 20671156
REMARK GeneRIF: study characterizes FANI which promotes DNA interstrand
cross-linking repair in a manner strictly dependent on its ability
to accumulate at or near sites of DNA damage and that relies on
mono-ubiquitylation of the FANCI-FANCD2 complex
REFERENCE 7 (bases 1 to 2748)
AUTHORS Smogorzewska,A., Desetty,R., Saito,T.T., Schlabach,M., Lach,F.P.,
Sowa,M.E., Clark,A.B., Kunkel,T.A., Harper,J.W., Colaiacovo,M.P.
and Elledge,S.J.
TITLE A genetic screen identifies FAN1, a Fanconi anemia-associated
nuclease necessary for DNA interstrand crosslink repair
JOURNAL Mol. Cell 39 (1), 36-47 (2010)
PUBMED 20603073
REMARK GeneRIF: FAN1 colocalizes at sites of DNA damage with the ID
complex in a manner dependent on FAN1's ubiquitin-binding domain
(UBZ), the FANCI-FAND2 (ID) complex, and monoubiquitination of
FANCD2.
REFERENCE 8 (bases 1 to 2748)
AUTHORS Kratz,K., Schopf,B., Kaden,S., Sendoel,A., Eberhard,R.,
Lademann,C., Cannavo,E., Sartori,A.A., Hengartner,M.O. and
Jiricny,J.
TITLE Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes
cells to interstrand crosslinking agents
JOURNAL Cell 142 (1), 77-88 (2010)
PUBMED 20603016
REMARK GeneRIF: KIAA1018 is a 5'-->3' exonuclease and a structure-specific
endonuclease that preferentially incises 5' flaps; like cells from
FA patients, human cells depleted of KIAA1018 are sensitized to
ICL-inducing agents and display chromosomal instability.
REFERENCE 9 (bases 1 to 2748)
AUTHORS MacKay,C., Declais,A.C., Lundin,C., Agostinho,A., Deans,A.J.,
MacArtney,T.J., Hofmann,K., Gartner,A., West,S.C., Helleday,T.,
Lilley,D.M. and Rouse,J.
TITLE Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to
DNA damage by monoubiquitinated FANCD2
JOURNAL Cell 142 (1), 65-76 (2010)
PUBMED 20603015
REMARK GeneRIF: Study describes how a highly conserved protein,
KIAA1018/MTMR15/FAN1, that interacts with, and is recruited to
sites of DNA damage by, the monoubiquitinated form of FANCD2.
REFERENCE 10 (bases 1 to 2748)
AUTHORS Alonso,A., Sasin,J., Bottini,N., Friedberg,I., Friedberg,I.,
Osterman,A., Godzik,A., Hunter,T., Dixon,J. and Mustelin,T.
TITLE Protein tyrosine phosphatases in the human genome
JOURNAL Cell 117 (6), 699-711 (2004)
PUBMED 15186772
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC047882.1 and BC044890.1.
Summary: This gene encodes a member of the myotubularin-related
class 1 cysteine-based protein tyrosine phosphatases. The encoded
protein may be catalytically inactive. Alternatively spliced
transcript variants have been described. [provided by RefSeq, Apr
2009].
Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR,
and 3' coding region, compared to variant 1. The resulting isoform
(b) has a distinct C-terminus and is shorter than isoform a.
Variants 2, 3 and 4 encode the same isoform (b).
##Evidence-Data-START##
Transcript exon combination :: BC047882.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-215 BC047882.1 1-215
216-2215 BC044890.1 176-2175
2216-2216 BC047882.1 2219-2219
2217-2748 BC044890.1 2177-2708
FEATURES Location/Qualifiers
source 1..2748
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q13.2-q13.3"
gene 1..2748
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/note="FANCD2/FANCI-associated nuclease 1"
/db_xref="GeneID:22909"
/db_xref="HGNC:29170"
/db_xref="MIM:613534"
exon 1..36
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
exon 37..1422
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
variation 103
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:113045164"
misc_feature 117..119
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/note="upstream in-frame stop codon"
variation 167
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369326801"
CDS 189..1790
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/EC_number="3.1.4.1"
/note="isoform b is encoded by transcript variant 3;
fanconi anemia associated nuclease 1; coiled-coil
domain-containing protein MTMR15; myotubularin-related
protein 15"
/codon_start=1
/product="fanconi-associated nuclease 1 isoform b"
/protein_id="NP_001139567.1"
/db_xref="GI:226246527"
/db_xref="CCDS:CCDS58344.1"
/db_xref="GeneID:22909"
/db_xref="HGNC:29170"
/db_xref="MIM:613534"
/translation="
MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPGQVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLSRKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAESQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACHCEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRFCWLLLQ
"
misc_feature 228..254
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4);
Region: D-box"
misc_feature 309..374
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/note="Rad18-like CCHC zinc finger; Region: ZnF_Rad18;
smart00734"
/db_xref="CDD:128973"
misc_feature 822..830
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4);
Region: KEN box"
variation 189
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:139312614"
variation 193
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:143294144"
variation 198
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369398471"
variation 201
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:149291568"
variation 268
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:139353520"
variation 274
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199574217"
variation 295
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:146249441"
variation 303
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:183652083"
variation 317
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200233447"
variation 324
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:371593413"
variation 329
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:144469584"
variation 337
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:148404807"
variation 349
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376214743"
variation 362
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:143965941"
variation 387
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:146522953"
variation 406
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:201860403"
variation 413
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376882561"
variation 416
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:367612076"
variation 444
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:139988104"
variation 477
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:375827355"
variation 480
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:199838412"
variation 496
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:200672666"
variation 514
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:76725957"
variation 517
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:151206988"
variation 518
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:139159448"
variation 588
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:144046046"
variation 617
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:199537330"
variation 622
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:146408181"
variation 630
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:113751993"
variation 649
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:145226318"
variation 678
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142350646"
variation 685
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:146422014"
variation 695
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372161455"
variation 699
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376003074"
variation 704
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:139019089"
variation 719
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201499851"
variation 721
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:367894669"
variation 745
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:148610242"
variation 753
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377089680"
variation 761
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201722958"
variation 778
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376369585"
variation 786
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:369093658"
variation 791
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:142084532"
variation 796
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373390525"
variation 839
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:374878731"
variation 843
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:143816528"
variation 844
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:189713653"
variation 854
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376528017"
variation 860
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369869010"
variation 873
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:148140498"
variation 886
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:4779794"
variation 889
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:17846417"
variation 906
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:150748572"
variation 919
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200798913"
variation 959
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:372989498"
variation 970
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:137920161"
variation 971
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142437586"
variation 995
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199810253"
variation 1024
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376256721"
variation 1075
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:145950723"
variation 1117
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201220536"
variation 1129
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:139809129"
variation 1132
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:143534852"
variation 1149
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:144577204"
variation 1278
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:187082481"
variation 1281
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:370459391"
variation 1298
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:114136100"
variation 1299
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142597944"
variation 1317
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:151322829"
variation 1331
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142470367"
variation 1349
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:192293773"
variation 1365
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:115139636"
variation 1366
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:140632948"
variation 1372
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201153099"
variation 1382
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:141494062"
variation 1390
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:150484853"
exon 1423..1563
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
variation 1435
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:200759965"
variation 1452
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:374895181"
variation 1458
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:368417113"
variation 1459
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:138307818"
variation 1470
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:372815502"
variation 1498
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:79759675"
variation 1513
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:75820658"
variation 1521
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200504684"
variation 1538
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:138954416"
variation 1540
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:182455628"
variation 1541
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142501642"
exon 1564..2738
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
variation 1587
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377131039"
variation 1682
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199855919"
variation 1708
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:150393409"
variation 1723
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:370973001"
variation 1740
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:376174791"
variation 1775
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:79802476"
variation 1778
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375485617"
variation 1785
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369935463"
variation 1786
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:373034831"
variation 1840
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:3794594"
variation 1892
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:7183847"
variation 1903..1904
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace=""
/replace="t"
/db_xref="dbSNP:374352331"
variation 1955
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:191452532"
variation 2014
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:3794595"
variation 2165
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:75007462"
variation 2180
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:183617582"
variation 2241
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:138151213"
variation 2326
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:61439612"
STS 2430..2531
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/standard_name="WI-11934"
/db_xref="UniSTS:34421"
variation 2502..2503
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace=""
/replace="at"
/db_xref="dbSNP:71838137"
variation 2520..2521
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace=""
/replace="a"
/db_xref="dbSNP:34387091"
variation 2533
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:1056118"
variation 2550
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:140369113"
polyA_signal 2558..2563
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
variation 2574
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:111731930"
variation 2681
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:112451378"
polyA_signal 2712..2717
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
polyA_site 2738
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
ORIGIN
ctgggaatgcctggaagcgccggcgcgcggagccaggaagaagaaattgtcgagacgaataacatgaggtcatatagaatcccacttttggtgatttcaagtcaagaaagtaaaagtaaaccattgctatctttcaccttaaatatcctgtgttttattgctcagaacatccagtttttctaatactcatgatgtcagaagggaaacctcctgacaaaaaaaggcctcgtagaagcttatcaatcagcaagaataagaaaaaagcatctaattctattatttcgtgttttaacaatgcaccacctgctaaacttgcctgccccgtttgcagtaaaatggtgcctagatatgacttaaaccggcaccttgatgaaatgtgtgctaacaatgacttcgttcaagtggatccagggcaggttggcttaataaattcaaatgtgtctatggtagatttaaccagtgttaccttagaagatgtaacacctaagaagtcaccaccaccaaagacaaatttaacccctggccaaagtgattcagcaaaaagggaagtaaagcagaagatcagtccctactttaaaagtaatgatgtggtgtgcaaaaatcaagatgagctgagaaatcgtagtgtgaaagtcatttgtttgggaagcctagcatctaaattgtccagaaaatacgtaaaggctaaaaaatcaatagataaggatgaagaatttgccggttctagtccacagagttccaaatccacagttgttaagagcctgattgataactcttcagaaattgaggacgaggatcaaattttggagaacagttctcaaaaagaaaacgtgtttaaatgtgattctctaaaggaagagtgcattcctgaacatatggtaagaggaagtaaaataatggaagccgaaagccaaaaggctacccgggaatgtgagaaatcagccctcacccctggattctcagataatgcgatcatgttattctcaccagatttcactcttaggaatacattaaagtctacttcagaagacagtcttgtaaagcaagagtgtatcaaagaagtggttgaaaaacgtgaggcatgtcattgtgaagaagtaaaaatgactgttgcttcagaagctaaaatacagctgtcagattcagaggcaaaatctcatagttctgcagatgatgcttctgcatggagtaacatccaagaggctcctctgcaggatgacagttgcttaaacaatgatatccctcacagcattcctttggagcaggggtcaagctgcaatggtcctggtcaaacaaccggtcatccttactaccttcggagtttccttgtggtgctgaaaaccgtacttgagaatgaagatgatatgttgctctttgatgagcaggagaagggaattgtaactaaattttatcagttatcagctactggtcagaagttatatgtaaggctctttcaacgtaaattaagctggattaagatgaccaaattagagtatgaagagattgccttagacttaacacctgtgattgaagaattgacgaatgcaggctttctacagacagaatctgagttgcaagaactctctgaagtgcttgaactcctttctgctcctgaactaaaatccctagccaagaccttccacttggtgaatcccaatggacagaaacagcagctggtggacgcctttctcaaattggccaaacagcgttcagtctgcacttggggcaagaataagcctggaattggtgcagtgattttaaaaaggttttgttggctattgttacagtaaaaacatttaaaatgttgatagcacatattaacttacagtagattgtatacttgattgaactgtaattgtttatttcagttgtagttagattgagaaggctggaaaagccttaattgcaatagcctggattctttcttgggttattattcaaaatttttgtcgtaataccgtactaatttccaggaccaagaaaaatcggaaggcaataggcctttggtaaattgtagtattttattttccgagaaaaatacagttttaagtgattcttatgggattttaaggtaaactatttagtcaaatttttattttagtttttgtttactaaacaaagtataatcaggcagtcttaatgtgcaagttttcctgagtttaaacgtaacaatttaccaaaaactgtgagtggcttcttttgtccttgagaagcccttgacctgtttcagttgaaaattacaaaaacttttagaattgatttcttttgcccatgttatttatataatcaaactatatcaactctagcctgggaattcactactgtggagtcgaggatgaaatgagaggatgcttttgaaaacactttaacatgatgttgttatttattttatatatttgttttgtatatttcagttgttatgagcccatccttgttggggaggtgctataaatactaatctttaatgaaacataggtgtaataaggcagacattaagaaaaatataaataccaacacttgaaaaaagctcgtgttatagatttttaaaaagtacttcaataaattacatacttgtaattaattgacttgagaagtatagaatcctcatctgtgtggtatgttaaatgtcttctaagtcctttctttatctaattgtatttcttaagtatttgatgttaaccttatatgtaacattttataagcaagtaaacattaaatttagccaccctctggctgggaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:22909 -> Molecular function: GO:0000287 [magnesium ion binding] evidence: TAS
GeneID:22909 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:22909 -> Molecular function: GO:0004528 [phosphodiesterase I activity] evidence: IEA
GeneID:22909 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:22909 -> Molecular function: GO:0008409 [5'-3' exonuclease activity] evidence: IDA
GeneID:22909 -> Molecular function: GO:0017108 [5'-flap endonuclease activity] evidence: IDA
GeneID:22909 -> Molecular function: GO:0043130 [ubiquitin binding] evidence: IDA
GeneID:22909 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: IMP
GeneID:22909 -> Biological process: GO:0006281 [DNA repair] evidence: IMP
GeneID:22909 -> Biological process: GO:0006289 [nucleotide-excision repair] evidence: IMP
GeneID:22909 -> Biological process: GO:0033683 [nucleotide-excision repair, DNA incision] evidence: IDA
GeneID:22909 -> Biological process: GO:0033683 [nucleotide-excision repair, DNA incision] evidence: IMP
GeneID:22909 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001139567 -> EC 3.1.4.1
by
@meso_cacase at
DBCLS
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