ID F7AV33_HORSE Unreviewed; 829 AA.
AC F7AV33;
DT 27-JUL-2011, integrated into UniProtKB/TrEMBL.
DT 13-SEP-2023, sequence version 3.
DT 27-MAR-2024, entry version 55.
DE RecName: Full=Microcephalin {ECO:0000256|ARBA:ARBA00017027};
GN Name=MCPH1 {ECO:0000313|Ensembl:ENSECAP00000016389.3,
GN ECO:0000313|VGNC:VGNC:20044};
OS Equus caballus (Horse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus.
OX NCBI_TaxID=9796 {ECO:0000313|Ensembl:ENSECAP00000016389.3, ECO:0000313|Proteomes:UP000002281};
RN [1] {ECO:0000313|Ensembl:ENSECAP00000016389.3, ECO:0000313|Proteomes:UP000002281}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Thoroughbred {ECO:0000313|Ensembl:ENSECAP00000016389.3,
RC ECO:0000313|Proteomes:UP000002281};
RX PubMed=19892987; DOI=10.1126/science.1178158;
RG Broad Institute Genome Sequencing Platform;
RG Broad Institute Whole Genome Assembly Team;
RA Wade C.M., Giulotto E., Sigurdsson S., Zoli M., Gnerre S., Imsland F.,
RA Lear T.L., Adelson D.L., Bailey E., Bellone R.R., Bloecker H., Distl O.,
RA Edgar R.C., Garber M., Leeb T., Mauceli E., MacLeod J.N., Penedo M.C.T.,
RA Raison J.M., Sharpe T., Vogel J., Andersson L., Antczak D.F., Biagi T.,
RA Binns M.M., Chowdhary B.P., Coleman S.J., Della Valle G., Fryc S.,
RA Guerin G., Hasegawa T., Hill E.W., Jurka J., Kiialainen A., Lindgren G.,
RA Liu J., Magnani E., Mickelson J.R., Murray J., Nergadze S.G., Onofrio R.,
RA Pedroni S., Piras M.F., Raudsepp T., Rocchi M., Roeed K.H., Ryder O.A.,
RA Searle S., Skow L., Swinburne J.E., Syvaenen A.C., Tozaki T., Valberg S.J.,
RA Vaudin M., White J.R., Zody M.C., Lander E.S., Lindblad-Toh K.;
RT "Genome sequence, comparative analysis, and population genetics of the
RT domestic horse.";
RL Science 326:865-867(2009).
RN [2] {ECO:0000313|Ensembl:ENSECAP00000016389.3}
RP IDENTIFICATION.
RC STRAIN=Thoroughbred {ECO:0000313|Ensembl:ENSECAP00000016389.3};
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- FUNCTION: Implicated in chromosome condensation and DNA damage induced
CC cellular responses. May play a role in neurogenesis and regulation of
CC the size of the cerebral cortex. {ECO:0000256|ARBA:ARBA00025455}.
CC -!- SUBUNIT: Interacts with CDC27 and maybe other components of the APC/C
CC complex. Interacts with histone variant H2AX under DNA damage
CC conditions. {ECO:0000256|ARBA:ARBA00026061}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000256|ARBA:ARBA00004300}.
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DR AlphaFoldDB; F7AV33; -.
DR Ensembl; ENSECAT00000019987.3; ENSECAP00000016389.3; ENSECAG00000018517.4.
DR VGNC; VGNC:20044; MCPH1.
DR GeneTree; ENSGT00390000018842; -.
DR HOGENOM; CLU_022062_0_0_1; -.
DR Proteomes; UP000002281; Chromosome 27.
DR Bgee; ENSECAG00000018517; Expressed in bone marrow and 23 other cell types or tissues.
DR GO; GO:0005813; C:centrosome; IEA:UniProtKB-SubCell.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0060348; P:bone development; IEA:Ensembl.
DR GO; GO:0021987; P:cerebral cortex development; IEA:Ensembl.
DR GO; GO:0000132; P:establishment of mitotic spindle orientation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0097150; P:neuronal stem cell population maintenance; IEA:Ensembl.
DR GO; GO:0071539; P:protein localization to centrosome; IEA:Ensembl.
DR GO; GO:0046605; P:regulation of centrosome cycle; IEA:Ensembl.
DR GO; GO:0060623; P:regulation of chromosome condensation; IEA:Ensembl.
DR GO; GO:0050727; P:regulation of inflammatory response; IEA:Ensembl.
DR CDD; cd17716; BRCT_microcephalin_rpt1; 1.
DR CDD; cd17736; BRCT_microcephalin_rpt2; 1.
DR CDD; cd17751; BRCT_microcephalin_rpt3; 1.
DR Gene3D; 3.40.50.10190; BRCT domain; 3.
DR InterPro; IPR001357; BRCT_dom.
DR InterPro; IPR036420; BRCT_dom_sf.
DR InterPro; IPR022047; Microcephalin-like.
DR InterPro; IPR029504; Microcephalin_mammal.
DR PANTHER; PTHR14625; MICROCEPHALIN; 1.
DR PANTHER; PTHR14625:SF3; MICROCEPHALIN; 1.
DR Pfam; PF00533; BRCT; 1.
DR Pfam; PF12258; Microcephalin; 1.
DR Pfam; PF12738; PTCB-BRCT; 1.
DR SMART; SM00292; BRCT; 3.
DR SUPFAM; SSF52113; BRCT domain; 3.
DR PROSITE; PS50172; BRCT; 2.
PE 4: Predicted;
KW Cytoplasm {ECO:0000256|ARBA:ARBA00023212};
KW Cytoskeleton {ECO:0000256|ARBA:ARBA00023212};
KW Reference proteome {ECO:0000313|Proteomes:UP000002281}.
FT DOMAIN 7..99
FT /note="BRCT"
FT /evidence="ECO:0000259|PROSITE:PS50172"
FT DOMAIN 745..827
FT /note="BRCT"
FT /evidence="ECO:0000259|PROSITE:PS50172"
FT REGION 192..212
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 338..419
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 616..638
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 196..212
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 338..367
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 389..416
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 829 AA; 92070 MW; A1FB492F02EA5A3A CRC64;
MAAPGTAGSS VLKDVVAYVE VWSANGTENY SKTFTNQLVD MGAKVSKTFN KQVTHVVFKD
GYQSTWDKAL KRGVKLVSVL WVEKCRTAGV HIDESLFPAA NTNEDLPSLI KKKHKCMQPK
DFIPRTPEND KRLQKKFEKM AKELQKQKTT LDNGVPVLLF ESNGSLMYSP TIKMYSGHHI
GMEKRLQEMK EKRENLSPVS SQMPEKSQEN PVNSTCEASL NISHDTLCSD ESFAGGLHSS
FEDLCGNSGC GNQERKVGGF VDEIKSDRCV SSPVLKTSSI HVSASPGYVS QLTPQKFMSN
LSKEEIHWQR DPVGEIVAPD TKHSEGITKE AFDKKCSLSP TLSATKGHSL GQSRPKSSSA
KRRMTSENLP SSPKEKLKRK RYNGKSTMPK LQLFKSESSL QFRTRSATTT PDCGESSYDD
YFSPDNLKER NSENLLPGCQ SSSRPAQFYC RRNLSKRERT TVLEMSDFSC IGKNPGSIGI
TNLIAKTSSS LQRPTNDERN TTLGFMASEG ASAAGETPGF CGQAVPQTRE DMSEDGKSIS
SCTISELALQ KARVAKEDHG DSTHWKGCNK EMQELIDIQT RQKEDTASKM LNSSEGETQS
NYKLNFVGDC NVEKSTEESE NLPRGCSESV KNGPTSCDVL DGPREALKDL IRSQEESKKR
GKGRKPTRTL VMTSMPSEKQ NIIIQVLNKL KGFSFAPEVC ETTTHVLVGK PVRTLNVLLG
IARGCWILSY EWLCRLERHL SAGHYQGTLF ADQPMMFITP ASNPPRAKLW ELVLLCGGRI
TRVPHQASIF IGPSRRKRKA TIKYLSEAWI LDSITQHKVC ASENYLLLQ
//
