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Q8IYD8

- FANCM_HUMAN

UniProt

Q8IYD8 - FANCM_HUMAN

Protein

Fanconi anemia group M protein

Gene

FANCM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (25 Oct 2005)
      Previous versions | rss
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    Functioni

    ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions.4 Publications

    Catalytic activityi

    ATP + H2O = ADP + phosphate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi111 – 1188ATPCurated

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. chromatin binding Source: UniProtKB
    3. DNA binding Source: UniProtKB-KW
    4. helicase activity Source: UniProtKB-KW
    5. nuclease activity Source: InterPro
    6. protein binding Source: UniProtKB

    GO - Biological processi

    1. DNA repair Source: Reactome
    2. replication fork processing Source: UniProtKB
    3. resolution of meiotic recombination intermediates Source: UniProtKB

    Keywords - Molecular functioni

    Helicase, Hydrolase

    Keywords - Biological processi

    DNA damage, DNA repair

    Keywords - Ligandi

    ATP-binding, DNA-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_18410. Fanconi Anemia pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fanconi anemia group M protein (EC:3.6.4.13)
    Short name:
    Protein FACM
    Alternative name(s):
    ATP-dependent RNA helicase FANCM
    Fanconi anemia-associated polypeptide of 250 kDa
    Short name:
    FAAP250
    Protein Hef ortholog
    Gene namesi
    Name:FANCM
    Synonyms:KIAA1596
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:23168. FANCM.

    Subcellular locationi

    Nucleus 3 Publications

    GO - Cellular componenti

    1. FANCM-MHF complex Source: UniProtKB
    2. Fanconi anaemia nuclear complex Source: UniProtKB
    3. nucleoplasm Source: Reactome
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Fanconi anemia complementation group M (FANCM) [MIM:614087]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi116 – 1161G → A: Reduces ATPase activity. 1 Publication
    Mutagenesisi117 – 1171K → R: Abolishes ATPase activity. 1 Publication

    Keywords - Diseasei

    Fanconi anemia

    Organism-specific databases

    MIMi614087. phenotype.
    Orphaneti84. Fanconi anemia.
    PharmGKBiPA134943156.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 20482048Fanconi anemia group M proteinPRO_0000055176Add
    BLAST

    Post-translational modificationi

    Phosphorylated; hyperphosphorylated in response to genotoxic stress.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8IYD8.
    PaxDbiQ8IYD8.
    PRIDEiQ8IYD8.

    PTM databases

    PhosphoSiteiQ8IYD8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IYD8.
    BgeeiQ8IYD8.
    CleanExiHS_FANCM.
    GenevestigatoriQ8IYD8.

    Organism-specific databases

    HPAiHPA055144.

    Interactioni

    Subunit structurei

    Belongs to the multisubunit FA complex composed of APITD1, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. The complex is not found in FA patients. Interacts with APITD1/CENPS, FAAP24 and EME1.4 Publications

    Protein-protein interaction databases

    BioGridi121722. 28 interactions.
    DIPiDIP-43972N.
    IntActiQ8IYD8. 6 interactions.
    MINTiMINT-4789123.
    STRINGi9606.ENSP00000267430.

    Structurei

    Secondary structure

    1
    2048
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi682 – 69110
    Beta strandi698 – 7003
    Beta strandi702 – 7043
    Turni711 – 7133
    Beta strandi728 – 7303
    Helixi737 – 7393
    Beta strandi747 – 7493
    Helixi753 – 76816
    Helixi776 – 7816
    Helixi782 – 7843
    Helixi787 – 7893
    Beta strandi1819 – 18235
    Helixi1826 – 18294
    Helixi1831 – 18388
    Beta strandi1844 – 18485
    Beta strandi1854 – 18563
    Beta strandi1858 – 186710
    Helixi1868 – 18725
    Helixi1877 – 188812
    Beta strandi1892 – 18998
    Helixi1916 – 192712
    Beta strandi1931 – 19377
    Helixi1938 – 195417
    Helixi1970 – 19778
    Helixi1984 – 199310
    Helixi1997 – 20015
    Helixi2005 – 20128
    Helixi2016 – 202712
    Helixi2032 – 20343

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4BXOX-ray2.15A1798-2048[»]
    4DAYX-ray3.30C1218-1251[»]
    4DRBX-ray2.63C/F/I661-800[»]
    4E45X-ray2.00E/J/O667-800[»]
    4M6WX-ray2.90A1813-2031[»]
    ProteinModelPortaliQ8IYD8.
    SMRiQ8IYD8. Positions 92-602, 675-790, 1818-2035.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini98 – 266169Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini452 – 627176Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1727 – 2048322Interaction with FAAP24 and EME1Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi214 – 2174DEAH box

    Sequence similaritiesi

    Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
    Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG1948.
    HOGENOMiHOG000112498.
    HOVERGENiHBG081520.
    InParanoidiQ8IYD8.
    KOiK10896.
    OMAiSIYKAIS.
    OrthoDBiEOG7B8S3M.
    PhylomeDBiQ8IYD8.
    TreeFamiTF324610.

    Family and domain databases

    Gene3Di3.40.50.10130. 1 hit.
    3.40.50.300. 2 hits.
    InterProiIPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
    IPR020819. DNA_repair_nuc_XPF/helicase.
    IPR006166. ERCC4_domain.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR011335. Restrct_endonuc-II-like.
    IPR010994. RuvA_2-like.
    [Graphical view]
    PfamiPF00270. DEAD. 1 hit.
    PF02732. ERCC4. 1 hit.
    PF00271. Helicase_C. 1 hit.
    [Graphical view]
    SMARTiSM00487. DEXDc. 1 hit.
    SM00891. ERCC4. 1 hit.
    SM00490. HELICc. 1 hit.
    [Graphical view]
    SUPFAMiSSF47781. SSF47781. 1 hit.
    SSF52540. SSF52540. 2 hits.
    SSF52980. SSF52980. 1 hit.
    PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IYD8-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSGRQRTLFQ TWGSSISRSS GTPGCSSGTE RPQSPGSSKA PLPAAAEAQL     50
    ESDDDVLLVA AYEAERQLCL ENGGFCTSAG ALWIYPTNCP VRDYQLHISR 100
    AALFCNTLVC LPTGLGKTFI AAVVMYNFYR WFPSGKVVFM APTKPLVTQQ 150
    IEACYQVMGI PQSHMAEMTG STQASTRKEI WCSKRVLFLT PQVMVNDLSR 200
    GACPAAEIKC LVIDEAHKAL GNYAYCQVVR ELVKYTNHFR ILALSATPGS 250
    DIKAVQQVIT NLLIGQIELR SEDSPDILTY SHERKVEKLI VPLGEELAAI 300
    QKTYIQILES FARSLIQRNV LMRRDIPNLT KYQIILARDQ FRKNPSPNIV 350
    GIQQGIIEGE FAICISLYHG YELLQQMGMR SLYFFLCGIM DGTKGMTRSK 400
    NELGRNEDFM KLYNHLECMF ARTRSTSANG ISAIQQGDKN KKFVYSHPKL 450
    KKLEEVVIEH FKSWNAENTT EKKRDETRVM IFSSFRDSVQ EIAEMLSQHQ 500
    PIIRVMTFVG HASGKSTKGF TQKEQLEVVK QFRDGGYNTL VSTCVGEEGL 550
    DIGEVDLIIC FDSQKSPIRL VQRMGRTGRK RQGRIVIILS EGREERIYNQ 600
    SQSNKRSIYK AISSNRQVLH FYQRSPRMVP DGINPKLHKM FITHGVYEPE 650
    KPSRNLQRKS SIFSYRDGMR QSSLKKDWFL SEEEFKLWNR LYRLRDSDEI 700
    KEITLPQVQF SSLQNEENKP AQESTTGIHQ LSLSEWRLWQ DHPLPTHQVD 750
    HSDRCRHFIG LMQMIEGMRH EEGECSYELE VESYLQMEDV TSTFIAPRNE 800
    SNNLASDTFI THKKSSFIKN INQGSSSSVI ESDEECAEIV KQTHIKPTKI 850
    VSLKKKVSKE IKKDQLKKEN NHGIIDSVDN DRNSTVENIF QEDLPNDKRT 900
    SDTDEIAATC TINENVIKEP CVLLTECQFT NKSTSSLAGN VLDSGYNSFN 950
    DEKSVSSNLF LPFEEELYIV RTDDQFYNCH SLTKEVLANV ERFLSYSPPP 1000
    LSGLSDLEYE IAKGTALENL LFLPCAEHLR SDKCTCLLSH SAVNSQQNLE 1050
    LNSLKCINYP SEKSCLYDIP NDNISDEPSL CDCDVHKHNQ NENLVPNNRV 1100
    QIHRSPAQNL VGENNHDVDN SDLPVLSTDQ DESLLLFEDV NTEFDDVSLS 1150
    PLNSKSESLP VSDKTAISET PLVSQFLISD ELLLDNNSEL QDQITRDANS 1200
    FKSRDQRGVQ EEKVKNHEDI FDCSRDLFSV TFDLGFCSPD SDDEILEHTS 1250
    DSNRPLDDLY GRYLEIKEIS DANYVSNQAL IPRDHSKNFT SGTVIIPSNE 1300
    DMQNPNYVHL PLSAAKNEEL LSPGYSQFSL PVQKKVMSTP LSKSNTLNSF 1350
    SKIRKEILKT PDSSKEKVNL QRFKEALNST FDYSEFSLEK SKSSGPMYLH 1400
    KSCHSVEDGQ LLTSNESEDD EIFRRKVKRA KGNVLNSPED QKNSEVDSPL 1450
    HAVKKRRFPI NRSELSSSDE SENFPKPCSQ LEDFKVCNGN ARRGIKVPKR 1500
    QSHLKHVARK FLDDEAELSE EDAEYVSSDE NDESENEQDS SLLDFLNDET 1550
    QLSQAINDSE MRAIYMKSLR SPMMNNKYKM IHKTHKNINI FSQIPEQDET 1600
    YLEDSFCVDE EESCKGQSSE EEVCVDFNLI TDDCFANSKK YKTRRAVMLK 1650
    EMMEQNCAHS KKKLSRIILP DDSSEEENNV NDKRESNIAV NPSTVKKNKQ 1700
    QDHCLNSVPS GSSAQSKVRS TPRVNPLAKQ SKQTSLNLKD TISEVSDFKP 1750
    QNHNEVQSTT PPFTTVDSQK DCRKFPVPQK DGSALEDSST SGASCSKSRP 1800
    HLAGTHTSLR LPQEGKGTCI LVGGHEITSG LEVISSLRAI HGLQVEVCPL 1850
    NGCDYIVSNR MVVERRSQSE MLNSVNKNKF IEQIQHLQSM FERICVIVEK 1900
    DREKTGDTSR MFRRTKSYDS LLTTLIGAGI RILFSSCQEE TADLLKELSL 1950
    VEQRKNVGIH VPTVVNSNKS EALQFYLSIP NISYITALNM CHQFSSVKRM 2000
    ANSSLQEISM YAQVTHQKAE EIYRYIHYVF DIQMLPNDLN QDRLKSDI 2048
    Length:2,048
    Mass (Da):232,191
    Last modified:October 25, 2005 - v2
    Checksum:iBDE0D6640B73C255
    GO
    Isoform 2 (identifier: Q8IYD8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         669-669: M → K
         670-2048: Missing.

    Show »
    Length:669
    Mass (Da):75,579
    Checksum:iA10DBC94FFA28C0B
    GO
    Isoform 3 (identifier: Q8IYD8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         228-253: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,022
    Mass (Da):229,281
    Checksum:iF31611E4697FA196
    GO

    Sequence cautioni

    The sequence BAB13422.1 differs from that shown. Reason: Intron retention.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti68 – 681L → F in BAC04159. (PubMed:14702039)Curated
    Sequence conflicti1460 – 14601I → V in BAB13422. (PubMed:10997877)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti175 – 1751S → F.
    Corresponds to variant rs10138997 [ dbSNP | Ensembl ].
    VAR_023697
    Natural varianti208 – 2081I → M.
    Corresponds to variant rs45547534 [ dbSNP | Ensembl ].
    VAR_061827
    Natural varianti878 – 8781V → L.1 Publication
    Corresponds to variant rs1367580 [ dbSNP | Ensembl ].
    VAR_023698
    Natural varianti1812 – 18121P → A.1 Publication
    Corresponds to variant rs3736772 [ dbSNP | Ensembl ].
    VAR_023699

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei228 – 25326Missing in isoform 3. 1 PublicationVSP_054504Add
    BLAST
    Alternative sequencei669 – 6691M → K in isoform 2. 2 PublicationsVSP_015989
    Alternative sequencei670 – 20481379Missing in isoform 2. 2 PublicationsVSP_015990Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ140356 mRNA. Translation: AAZ53290.1.
    AK093422 mRNA. Translation: BAC04159.1.
    AL121809 Genomic DNA. No translation available.
    BC036056 mRNA. Translation: AAH36056.1.
    BC140776 mRNA. Translation: AAI40777.1.
    BC144511 mRNA. Translation: AAI44512.1.
    AB046816 mRNA. Translation: BAB13422.1. Sequence problems.
    CCDSiCCDS32070.1. [Q8IYD8-1]
    RefSeqiNP_065988.1. NM_020937.2. [Q8IYD8-1]
    XP_005267986.1. XM_005267929.1. [Q8IYD8-3]
    UniGeneiHs.509229.

    Genome annotation databases

    EnsembliENST00000267430; ENSP00000267430; ENSG00000187790. [Q8IYD8-1]
    ENST00000542564; ENSP00000442493; ENSG00000187790. [Q8IYD8-3]
    ENST00000556036; ENSP00000450596; ENSG00000187790. [Q8IYD8-2]
    GeneIDi57697.
    KEGGihsa:57697.
    UCSCiuc001wwc.2. human. [Q8IYD8-2]
    uc001wwd.4. human. [Q8IYD8-1]

    Polymorphism databases

    DMDMi78099254.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Fanconi Anemia Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ140356 mRNA. Translation: AAZ53290.1 .
    AK093422 mRNA. Translation: BAC04159.1 .
    AL121809 Genomic DNA. No translation available.
    BC036056 mRNA. Translation: AAH36056.1 .
    BC140776 mRNA. Translation: AAI40777.1 .
    BC144511 mRNA. Translation: AAI44512.1 .
    AB046816 mRNA. Translation: BAB13422.1 . Sequence problems.
    CCDSi CCDS32070.1. [Q8IYD8-1 ]
    RefSeqi NP_065988.1. NM_020937.2. [Q8IYD8-1 ]
    XP_005267986.1. XM_005267929.1. [Q8IYD8-3 ]
    UniGenei Hs.509229.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4BXO X-ray 2.15 A 1798-2048 [» ]
    4DAY X-ray 3.30 C 1218-1251 [» ]
    4DRB X-ray 2.63 C/F/I 661-800 [» ]
    4E45 X-ray 2.00 E/J/O 667-800 [» ]
    4M6W X-ray 2.90 A 1813-2031 [» ]
    ProteinModelPortali Q8IYD8.
    SMRi Q8IYD8. Positions 92-602, 675-790, 1818-2035.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121722. 28 interactions.
    DIPi DIP-43972N.
    IntActi Q8IYD8. 6 interactions.
    MINTi MINT-4789123.
    STRINGi 9606.ENSP00000267430.

    PTM databases

    PhosphoSitei Q8IYD8.

    Polymorphism databases

    DMDMi 78099254.

    Proteomic databases

    MaxQBi Q8IYD8.
    PaxDbi Q8IYD8.
    PRIDEi Q8IYD8.

    Protocols and materials databases

    DNASUi 57697.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000267430 ; ENSP00000267430 ; ENSG00000187790 . [Q8IYD8-1 ]
    ENST00000542564 ; ENSP00000442493 ; ENSG00000187790 . [Q8IYD8-3 ]
    ENST00000556036 ; ENSP00000450596 ; ENSG00000187790 . [Q8IYD8-2 ]
    GeneIDi 57697.
    KEGGi hsa:57697.
    UCSCi uc001wwc.2. human. [Q8IYD8-2 ]
    uc001wwd.4. human. [Q8IYD8-1 ]

    Organism-specific databases

    CTDi 57697.
    GeneCardsi GC14P045605.
    GeneReviewsi FANCM.
    HGNCi HGNC:23168. FANCM.
    HPAi HPA055144.
    MIMi 609644. gene.
    614087. phenotype.
    neXtProti NX_Q8IYD8.
    Orphaneti 84. Fanconi anemia.
    PharmGKBi PA134943156.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1948.
    HOGENOMi HOG000112498.
    HOVERGENi HBG081520.
    InParanoidi Q8IYD8.
    KOi K10896.
    OMAi SIYKAIS.
    OrthoDBi EOG7B8S3M.
    PhylomeDBi Q8IYD8.
    TreeFami TF324610.

    Enzyme and pathway databases

    Reactomei REACT_18410. Fanconi Anemia pathway.

    Miscellaneous databases

    GenomeRNAii 57697.
    NextBioi 35468386.
    PROi Q8IYD8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IYD8.
    Bgeei Q8IYD8.
    CleanExi HS_FANCM.
    Genevestigatori Q8IYD8.

    Family and domain databases

    Gene3Di 3.40.50.10130. 1 hit.
    3.40.50.300. 2 hits.
    InterProi IPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
    IPR020819. DNA_repair_nuc_XPF/helicase.
    IPR006166. ERCC4_domain.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR011335. Restrct_endonuc-II-like.
    IPR010994. RuvA_2-like.
    [Graphical view ]
    Pfami PF00270. DEAD. 1 hit.
    PF02732. ERCC4. 1 hit.
    PF00271. Helicase_C. 1 hit.
    [Graphical view ]
    SMARTi SM00487. DEXDc. 1 hit.
    SM00891. ERCC4. 1 hit.
    SM00490. HELICc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47781. SSF47781. 1 hit.
    SSF52540. SSF52540. 2 hits.
    SSF52980. SSF52980. 1 hit.
    PROSITEi PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
      Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
      Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF; FANCG AND FANCL, SUBCELLULAR LOCATION, INVOLVEMENT IN FANCM, PHOSPHORYLATION, FUNCTION, MUTAGENESIS OF LYS-117.
    2. "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] (ISOFORM 2).
      Tissue: Testis.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [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] (ISOFORMS 2 AND 3).
      Tissue: Brain and Testis.
    5. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 794-2048 (ISOFORM 1), VARIANTS LEU-878 AND ALA-1812.
      Tissue: Brain.
    6. "The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway."
      Mosedale G., Niedzwiedz W., Alpi A., Perrina F., Pereira-Leal J.B., Johnson M., Langevin F., Pace P., Patel K.J.
      Nat. Struct. Mol. Biol. 12:763-771(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: DNA-BINDING, MUTAGENESIS OF GLY-116, IDENTIFICATION AS PART OF THE FA COMPLEX, FUNCTION.
    7. "Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM."
      Ciccia A., Ling C., Coulthard R., Yan Z., Xue Y., Meetei A.R., Laghmani el H., Joenje H., McDonald N., de Winter J.P., Wang W., West S.C.
      Mol. Cell 25:331-343(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EME1 AND FAAP24.
    8. Cited for: IDENTIFICATION IN THE FA CORE COMPLEX, INTERACTION WITH APITD1, SUBCELLULAR LOCATION, FUNCTION.
    9. "MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM."
      Singh T.R., Saro D., Ali A.M., Zheng X.-F., Du C., Killen M.W., Sachpatzidis A., Wahengbam K., Pierce A.J., Xiong Y., Sung P., Meetei A.R.
      Mol. Cell 37:879-886(2010)
      Cited for: IDENTIFICATION IN THE FA CORE COMPLEX, INTERACTION WITH APITD1, SUBCELLULAR LOCATION, FUNCTION.

    Entry informationi

    Entry nameiFANCM_HUMAN
    AccessioniPrimary (citable) accession number: Q8IYD8
    Secondary accession number(s): B2RTQ9
    , Q3YFH9, Q8N9X6, Q9HCH6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: October 25, 2005
    Last modified: October 1, 2014
    This is version 114 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3