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Q8IYD8

- FANCM_HUMAN

UniProt

Q8IYD8 - FANCM_HUMAN

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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

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

GO - Biological processi

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

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
Complete GO annotation...

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

BgeeiQ8IYD8.
CleanExiHS_FANCM.
ExpressionAtlasiQ8IYD8. baseline and differential.
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.
GeneTreeiENSGT00730000111048.
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. DEAD/DEAH_box_helicase_dom.
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

        10         20         30         40         50
MSGRQRTLFQ TWGSSISRSS GTPGCSSGTE RPQSPGSSKA PLPAAAEAQL
60 70 80 90 100
ESDDDVLLVA AYEAERQLCL ENGGFCTSAG ALWIYPTNCP VRDYQLHISR
110 120 130 140 150
AALFCNTLVC LPTGLGKTFI AAVVMYNFYR WFPSGKVVFM APTKPLVTQQ
160 170 180 190 200
IEACYQVMGI PQSHMAEMTG STQASTRKEI WCSKRVLFLT PQVMVNDLSR
210 220 230 240 250
GACPAAEIKC LVIDEAHKAL GNYAYCQVVR ELVKYTNHFR ILALSATPGS
260 270 280 290 300
DIKAVQQVIT NLLIGQIELR SEDSPDILTY SHERKVEKLI VPLGEELAAI
310 320 330 340 350
QKTYIQILES FARSLIQRNV LMRRDIPNLT KYQIILARDQ FRKNPSPNIV
360 370 380 390 400
GIQQGIIEGE FAICISLYHG YELLQQMGMR SLYFFLCGIM DGTKGMTRSK
410 420 430 440 450
NELGRNEDFM KLYNHLECMF ARTRSTSANG ISAIQQGDKN KKFVYSHPKL
460 470 480 490 500
KKLEEVVIEH FKSWNAENTT EKKRDETRVM IFSSFRDSVQ EIAEMLSQHQ
510 520 530 540 550
PIIRVMTFVG HASGKSTKGF TQKEQLEVVK QFRDGGYNTL VSTCVGEEGL
560 570 580 590 600
DIGEVDLIIC FDSQKSPIRL VQRMGRTGRK RQGRIVIILS EGREERIYNQ
610 620 630 640 650
SQSNKRSIYK AISSNRQVLH FYQRSPRMVP DGINPKLHKM FITHGVYEPE
660 670 680 690 700
KPSRNLQRKS SIFSYRDGMR QSSLKKDWFL SEEEFKLWNR LYRLRDSDEI
710 720 730 740 750
KEITLPQVQF SSLQNEENKP AQESTTGIHQ LSLSEWRLWQ DHPLPTHQVD
760 770 780 790 800
HSDRCRHFIG LMQMIEGMRH EEGECSYELE VESYLQMEDV TSTFIAPRNE
810 820 830 840 850
SNNLASDTFI THKKSSFIKN INQGSSSSVI ESDEECAEIV KQTHIKPTKI
860 870 880 890 900
VSLKKKVSKE IKKDQLKKEN NHGIIDSVDN DRNSTVENIF QEDLPNDKRT
910 920 930 940 950
SDTDEIAATC TINENVIKEP CVLLTECQFT NKSTSSLAGN VLDSGYNSFN
960 970 980 990 1000
DEKSVSSNLF LPFEEELYIV RTDDQFYNCH SLTKEVLANV ERFLSYSPPP
1010 1020 1030 1040 1050
LSGLSDLEYE IAKGTALENL LFLPCAEHLR SDKCTCLLSH SAVNSQQNLE
1060 1070 1080 1090 1100
LNSLKCINYP SEKSCLYDIP NDNISDEPSL CDCDVHKHNQ NENLVPNNRV
1110 1120 1130 1140 1150
QIHRSPAQNL VGENNHDVDN SDLPVLSTDQ DESLLLFEDV NTEFDDVSLS
1160 1170 1180 1190 1200
PLNSKSESLP VSDKTAISET PLVSQFLISD ELLLDNNSEL QDQITRDANS
1210 1220 1230 1240 1250
FKSRDQRGVQ EEKVKNHEDI FDCSRDLFSV TFDLGFCSPD SDDEILEHTS
1260 1270 1280 1290 1300
DSNRPLDDLY GRYLEIKEIS DANYVSNQAL IPRDHSKNFT SGTVIIPSNE
1310 1320 1330 1340 1350
DMQNPNYVHL PLSAAKNEEL LSPGYSQFSL PVQKKVMSTP LSKSNTLNSF
1360 1370 1380 1390 1400
SKIRKEILKT PDSSKEKVNL QRFKEALNST FDYSEFSLEK SKSSGPMYLH
1410 1420 1430 1440 1450
KSCHSVEDGQ LLTSNESEDD EIFRRKVKRA KGNVLNSPED QKNSEVDSPL
1460 1470 1480 1490 1500
HAVKKRRFPI NRSELSSSDE SENFPKPCSQ LEDFKVCNGN ARRGIKVPKR
1510 1520 1530 1540 1550
QSHLKHVARK FLDDEAELSE EDAEYVSSDE NDESENEQDS SLLDFLNDET
1560 1570 1580 1590 1600
QLSQAINDSE MRAIYMKSLR SPMMNNKYKM IHKTHKNINI FSQIPEQDET
1610 1620 1630 1640 1650
YLEDSFCVDE EESCKGQSSE EEVCVDFNLI TDDCFANSKK YKTRRAVMLK
1660 1670 1680 1690 1700
EMMEQNCAHS KKKLSRIILP DDSSEEENNV NDKRESNIAV NPSTVKKNKQ
1710 1720 1730 1740 1750
QDHCLNSVPS GSSAQSKVRS TPRVNPLAKQ SKQTSLNLKD TISEVSDFKP
1760 1770 1780 1790 1800
QNHNEVQSTT PPFTTVDSQK DCRKFPVPQK DGSALEDSST SGASCSKSRP
1810 1820 1830 1840 1850
HLAGTHTSLR LPQEGKGTCI LVGGHEITSG LEVISSLRAI HGLQVEVCPL
1860 1870 1880 1890 1900
NGCDYIVSNR MVVERRSQSE MLNSVNKNKF IEQIQHLQSM FERICVIVEK
1910 1920 1930 1940 1950
DREKTGDTSR MFRRTKSYDS LLTTLIGAGI RILFSSCQEE TADLLKELSL
1960 1970 1980 1990 2000
VEQRKNVGIH VPTVVNSNKS EALQFYLSIP NISYITALNM CHQFSSVKRM
2010 2020 2030 2040
ANSSLQEISM YAQVTHQKAE EIYRYIHYVF DIQMLPNDLN QDRLKSDI
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]
uc010anf.3. human.

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 ]
uc010anf.3. human.

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.
GeneTreei ENSGT00730000111048.
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

Bgeei Q8IYD8.
CleanExi HS_FANCM.
ExpressionAtlasi Q8IYD8. baseline and differential.
Genevestigatori Q8IYD8.

Family and domain databases

Gene3Di 3.40.50.10130. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR011545. DEAD/DEAH_box_helicase_dom.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 115 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