ID G1TAV2_RABIT Unreviewed; 2000 AA.
AC G1TAV2;
DT 19-OCT-2011, integrated into UniProtKB/TrEMBL.
DT 11-DEC-2019, sequence version 2.
DT 27-MAR-2024, entry version 68.
DE SubName: Full=Structural maintenance of chromosomes flexible hinge domain containing 1 {ECO:0000313|Ensembl:ENSOCUP00000013820.3};
GN Name=SMCHD1 {ECO:0000313|Ensembl:ENSOCUP00000013820.3};
OS Oryctolagus cuniculus (Rabbit).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus.
OX NCBI_TaxID=9986 {ECO:0000313|Ensembl:ENSOCUP00000013820.3, ECO:0000313|Proteomes:UP000001811};
RN [1] {ECO:0000313|Ensembl:ENSOCUP00000013820.3, ECO:0000313|Proteomes:UP000001811}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Thorbecke inbred {ECO:0000313|Ensembl:ENSOCUP00000013820.3,
RC ECO:0000313|Proteomes:UP000001811};
RX PubMed=21993624; DOI=10.1038/nature10530;
RA Lindblad-Toh K., Garber M., Zuk O., Lin M.F., Parker B.J., Washietl S.,
RA Kheradpour P., Ernst J., Jordan G., Mauceli E., Ward L.D., Lowe C.B.,
RA Holloway A.K., Clamp M., Gnerre S., Alfoldi J., Beal K., Chang J.,
RA Clawson H., Cuff J., Di Palma F., Fitzgerald S., Flicek P., Guttman M.,
RA Hubisz M.J., Jaffe D.B., Jungreis I., Kent W.J., Kostka D., Lara M.,
RA Martins A.L., Massingham T., Moltke I., Raney B.J., Rasmussen M.D.,
RA Robinson J., Stark A., Vilella A.J., Wen J., Xie X., Zody M.C., Baldwin J.,
RA Bloom T., Chin C.W., Heiman D., Nicol R., Nusbaum C., Young S.,
RA Wilkinson J., Worley K.C., Kovar C.L., Muzny D.M., Gibbs R.A., Cree A.,
RA Dihn H.H., Fowler G., Jhangiani S., Joshi V., Lee S., Lewis L.R.,
RA Nazareth L.V., Okwuonu G., Santibanez J., Warren W.C., Mardis E.R.,
RA Weinstock G.M., Wilson R.K., Delehaunty K., Dooling D., Fronik C.,
RA Fulton L., Fulton B., Graves T., Minx P., Sodergren E., Birney E.,
RA Margulies E.H., Herrero J., Green E.D., Haussler D., Siepel A., Goldman N.,
RA Pollard K.S., Pedersen J.S., Lander E.S., Kellis M.;
RT "A high-resolution map of human evolutionary constraint using 29 mammals.";
RL Nature 478:476-482(2011).
RN [2] {ECO:0000313|Ensembl:ENSOCUP00000013820.3}
RP IDENTIFICATION.
RC STRAIN=Thorbecke {ECO:0000313|Ensembl:ENSOCUP00000013820.3};
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; AAGW02031612; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAGW02031613; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAGW02031614; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR SMR; G1TAV2; -.
DR STRING; 9986.ENSOCUP00000013820; -.
DR PaxDb; 9986-ENSOCUP00000013820; -.
DR Ensembl; ENSOCUT00000016079.3; ENSOCUP00000013820.3; ENSOCUG00000000020.4.
DR eggNOG; ENOG502QREW; Eukaryota.
DR GeneTree; ENSGT00390000006950; -.
DR HOGENOM; CLU_002288_1_0_1; -.
DR InParanoid; G1TAV2; -.
DR TreeFam; TF329426; -.
DR Proteomes; UP000001811; Chromosome 9.
DR Bgee; ENSOCUG00000000020; Expressed in autopod skin and 15 other cell types or tissues.
DR GO; GO:0001740; C:Barr body; IEA:Ensembl.
DR GO; GO:0000781; C:chromosome, telomeric region; IEA:Ensembl.
DR GO; GO:0035861; C:site of double-strand break; IEA:Ensembl.
DR GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:Ensembl.
DR GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
DR GO; GO:0051276; P:chromosome organization; IEA:InterPro.
DR GO; GO:0010424; P:DNA methylation on cytosine within a CG sequence; IEA:Ensembl.
DR GO; GO:0006302; P:double-strand break repair; IEA:InterPro.
DR GO; GO:0060818; P:inactivation of paternal X chromosome by genomic imprinting; IEA:Ensembl.
DR GO; GO:2000042; P:negative regulation of double-strand break repair via homologous recombination; IEA:Ensembl.
DR GO; GO:0043584; P:nose development; IEA:Ensembl.
DR GO; GO:2001034; P:positive regulation of double-strand break repair via nonhomologous end joining; IEA:Ensembl.
DR CDD; cd16937; HATPase_SMCHD1-like; 1.
DR Gene3D; 3.30.565.10; Histidine kinase-like ATPase, C-terminal domain; 1.
DR InterPro; IPR036890; HATPase_C_sf.
DR InterPro; IPR010935; SMC_hinge.
DR InterPro; IPR036277; SMC_hinge_sf.
DR InterPro; IPR038892; SMCHD1.
DR PANTHER; PTHR22640:SF2; STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN-CONTAINING PROTEIN 1; 1.
DR PANTHER; PTHR22640; UNCHARACTERIZED; 1.
DR Pfam; PF13589; HATPase_c_3; 1.
DR Pfam; PF06470; SMC_hinge; 1.
DR SMART; SM00968; SMC_hinge; 1.
DR SUPFAM; SSF55874; ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase; 1.
DR SUPFAM; SSF75553; Smc hinge domain; 1.
PE 4: Predicted;
KW Coiled coil {ECO:0000256|SAM:Coils};
KW Reference proteome {ECO:0000313|Proteomes:UP000001811}.
FT DOMAIN 1715..1842
FT /note="SMC hinge"
FT /evidence="ECO:0000259|SMART:SM00968"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1639..1673
FT /evidence="ECO:0000256|SAM:Coils"
SQ SEQUENCE 2000 AA; 225778 MW; A98F306BD8A6F936 CRC64;
MAGLAGPSLG TGEDGGGDGH RTVYLFDRRE KESELGDRAL QIAEHSDYAG FRASVCQTLG
ISPEEKFVIT TTSRKEITCD NFDEIVKDGV TLYLLHSVNQ LLLTATKERI DFLPHYDTLV
KSGMYEYYAS EGQNPLPFAL AELIDNSLSA TARNVGIRKI QIKLLFDETQ GKPAVAVIDN
GRGMTSKQLN NWAVYRLSKF TRQGDFESDH SGYVRPVPVP RSLNSDISYF GVGGKQAVFF
VGQSARMISK PAGSQDVHEL VLSKEDFEKK EKNKEAIYSG YIRNRKPSDS VHITNDDERF
LHNLIIEEKE KDSFTAVVIT GVQPEHIQYL KNYFHLWTRQ LAHIYHYYIH GPKGNEVRMS
KEVGPFSNID IEISMFEKGK APKIVNLRDI QDDMQTLYVN KAADSFEFKA HVEGDGVVEG
IIRYHPFLYD KETYPDDPCF PSKLKDEDDD DDCFILEKAA RGKRPIFECF WNGRLIPYTS
VEDFDWCTPP KKRGLAPIEC YNRISGALFT NDKFQVSTNK LTFMDLELKL KDKNTLFTRI
LNGQEQRMKI DREFALWLKD CHEKYDKQIK FTLFKGIITR PDLPSKKQGP WATYSAIEWD
GKMYKAGQLV KTIKTLPLFY GSIVRFFLYG DHDGEVYATG GEVQIAMEPQ ALYDEIKTVP
IAKLDRTVAE KTVKKYVEDE MARLPDRLSV TWPEGDELLP NEIRPAGTPI GALRIEILNK
KGEAMQKLPG TSHGGSKKLL VELKVILHTS SGNKEIISHI SQHGGKWPYW FKKMENIQKL
GNYTLKLQVV LNESNADTYA GRPLPSKAIK FSVKEGKPEK FSFGLLDHPF RVGVPFNIPL
EFQDEFGHTS QLVTDIQPVL EASGLSLHYE EITKGPNCVI RGVTAKGSVN SCQGKNFNLK
VILPGLKEDS QILKMRLLPG PPRRLKVKPD SEILVIENGT AFPFQVEVLD ESDNLTAQPK
LIVHCKFSGA PNLPVYTVDC SSSGTSILTG SAIQVQNIKK DQTLKARIEI PSCKDVTPVE
KTIKLLPSSH VARLQIFSVE GQKAIQIKHQ DEVNWVAGDI MHNLIFQMYD EGEREINITS
TLAEKIKVNW TPEINKEHLL QGLLPDVQVP TSIKDMRYCQ VSFQDDHVSL ESAFTVRPLP
DEPKHLKCEL KGGKTVQMGQ ELLGEIVIII TDQYGNQIPA FSPNSLSALS IAGVGLDSSN
LKTTFQESTQ SISVRGIRFI PGPPGNKDLC FTWREFSDFI RVQLISGPPA KLLLIDWPEL
KESIPVINGR ELQNPLTVQL CDQWDNPAPV PQVKISLIKP NNLKLMPSNQ QHKTDEKGRA
NLGVFTVLAP RGEHIMQIKA VYNKCTIEGP TIKLMILPDP EKPIRLNVKY DRDASFLAGG
VFTDFMITVI SEDDSIIKNI NPARISMKMW KLSNSGNRPP ANAETFSCNK IKDNDKEEGC
FYFRDKAIPN KVGTYCIQFG FMMDKANTLN SEQVIIEVLP NQPVKLVPEN QPATPAVSNV
RSVLSRTLVR DLCLNVTDEY SNHTGLDLVG TVIATIKGSN EEDNDTPLFI GKVRTLEFPF
VNGSAEITSL VLAENSPGRD STEYFIVFEP RLSRLSRTLE PYILPFMFYN DVKKQQQMAA
LTKEKDQLSK SIIMYRNLFD ASKQLLDEMK CQVEEAKLKE AQLRNELKIH NIDIPAAQQI
PHIEALLKKK MSEQEELKKK PRRSCTLPNY TKGSGDVLGK IAHLAQIEDD RAAMVISWHL
ASDMDCVVTL TTDAARRIYD ETQGRQQVLP LDSIYKKNIP DWKRPLPHFR NGKLYFKPIG
NPVFARDLLT FPDNVEHCET VFGMLLGDTI ILDNLDAANH YRKEVVKNTH CPTLLTRDGD
RIRSNGKFGG LQNKAPPMDK LRGMVFGAPV PKQCLIIGEQ IELLQQYRSA VCKLGTVNED
LNGQLEYLHT PDMKKKKQEL DEQEKNLKII EQKLGMTPTR KCNDSLRHST KVEVVDCPIP
PKRMRREATR QNRIITKTDV
//
