Conserved Protein Domain Family
Microcephalin

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pfam12258: Microcephalin 
Microcephalin protein
This family of proteins is found in eukaryotes. Proteins in this family are typically between 384 and 835 amino acids in length. Microcephalin is involved in determining the size of the brain in animals. It is a protein, which if expressed homozygously causes the organism to have the condition microcephaly. Organisms expressing the mutated form of this protein in a homozygous manner develop a condition called microcephaly - a drastically reduced brain mass and volume. Microcephalin is predicted to contain three BRCA1 C-terminal domains, the first of which is the probable microcephaly mutation site.
Statistics
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PSSM-Id: 403469
View PSSM: pfam12258
Aligned: 21 rows
Threshold Bit Score: 345.935
Threshold Setting Gi: 620947241
Created: 21-May-2020
Updated: 7-Aug-2020
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
XP_023486251  256 ESFAGGLHSSFEDLCGNSGCGNQERKVGGFVDEIKSDRCVSSPVLKTSSIHVSASPGYVSQLTPQKFMSNLSKEEIHWQR 335  horse
XP_007671505   73 dpvVDDSNSSSDDLRGSLKSERRKKSVSGS-REVESGARVTTSDLNPREKPSAASSTDPSRVTPKRTKEQIAKEKQGSQH 151  platypus
XP_007476295  233 efISDVLNTSFDDIWRNSEQRKRTVKSEKHTREANTDTCLSSPISKT------ASCHLFDSITPQRSKSNLTAENRNFQN 306  gray short-ta...
EHB06907      226 ESFAGGLYSSLGDLCGRSGCGNQDRKLGDSVKEIKSDTCSSSPVLKTSNIHPLASSSCLSELSPQKCASDLPKAEVGRLR 305  naked mole-rat
ERE89232      230 ESFASCSHSSFDGL-----LGNQERKLGRSVNEMTRMACSASPVLKISSSYSSLSPNHLCQPSPQKAKDRPPKEDISWQK 304  Chinese hamster
XP_225006     244 ESFASGSHLSFDGP-----CGDQERKLGRSSNEMARMTCPSSPVLRASSFYGSASSNHLRQPSPQKAADTPSKEGVNQQK 318  Norway rat
XP_005334413  222 dFFAGGSRSPLDAFRGESRCRNQGSQSGRTTKETRSDTCTSSCVLEIDSTCSPALSGRLCPSSPQRSESPLSEEERSWQK 301  thirteen-line...
XP_017168278  250 ESFASGSHSSFGDS-----CGDQERKLGRSANEMTTVTCPSSPVLRASSFYGSASPNHLRQPRPQKAPDSPSKESINCQK 324  house mouse
XP_012998870  227 ESFAGDLHSSLDDL-----CGNQERKLEESVKEIKSEACNSSPVLRTGHTGSLASSGSLSELDPQKPPGALPKEGINWPQ 301  domestic guin...
XP_027818404  228 DSFAGGLPVSAEDLCGGSASGTQERNLGEFIAERGSDVRAASPVLQTGRVSPSAAPHPLGLLTPRRSTSSPPKAETPQQS 307  sheep
XP_023486251  336 DPVGEIVAPDTKHSEGITKEAFDKKCSLSPTLs----ATKGHSLGQSR---PKSSSAKRRMTSENLPSS-------PKEK 401  horse
XP_007671505  152 TLVTELHNVERGRSEGMSERTLVDRDPLGPSAa----TPKSHPFRQAKgpiPENLTNKMNHCWPRINSPttsdelgAKEK 227  platypus
XP_007476295  307 TLTTEVLTPEKTHFEEVSKKLFSDKDYLNP-La----IVESHSTKSPR---PTNTSEKQLRSLMHINSP-------LKEK 371  gray short-ta...
EHB06907      306 DLGGETVTPDRRQAQGVSD--LHEVKSSPPATs----AARGHLWLHSV---PGSSSAKGKRTSVDLCSP-------PRST 369  naked mole-rat
ERE89232      305 DAAGEKAELEREQAAHVSQGMSDEKLCLSPATtgnidAIDE----------PKSCSAKRKRPV-DLGSP-------PKGK 366  Chinese hamster
XP_225006     319 EATSEVTDSKRKQAAGVSQGMADEKHCLSPTKs----VIEERVVHLE----PKSSPAKRKRTA-DLGSP-------SKGK 382  Norway rat
XP_005334413  302 DAVGEAVAPDGRPAQGVS-----GDRSTAPASt---------VLVHSR---PWSASPRRERASVGLGSP-------PEEQ 357  thirteen-line...
XP_017168278  325 DATGAVADSERKQAAGVSQGVPDEKLCLSPTMs----IIEEHQVRLG----PKNSSAKRKRAA-DLGSS-------PKGK 388  house mouse
XP_012998870  302 DPGGEIVTLERKQAAEVSE-MSEEKSSPSPATs----ATRRHLWLQTV---LRSSLANRTRVSADLYTP-------LRET 366  domestic guin...
XP_027818404  308 GAAGGVVTPVSKPSRPAAQGPSDGKRRLSPVSs----ATKGRPGGRAQ---RMGSSTKRKKTPENSCPA-------SEKR 373  sheep
XP_023486251  402 LKRKRYNGKSTMPKLQLFK---SESSLQFRTRSATTTPDCGESSYDDYFSPDNLKERN---SENLLPG-CQsSSRPAQFY 474  horse
XP_007671505  228 SRGKRPSMKLTAAILHQGA---SEVPSQLKSKSGSETSNSEDASYDDYFSPANLNERTapiSSVFAPGrQQkSPGPPRLT 304  platypus
XP_007476295  372 SRKKKSTIKFATPKVHRDK---AENFLELMTTPVKVSPACEEAIYEDYFSPTNLKEGN---SKNCTSKvKQiLESPSHLN 445  gray short-ta...
EHB06907      370 LKRRRSGQRPVGPWEQQLR---SSRSLRFPTSAVMGTPDCGVSSYEDYFSPENLQERT---SAGHPPV-SRpSPGPAHFS 442  naked mole-rat
ERE89232      367 LKKKRYNRNSA-LSIQLFK---SDHRPQFTTSPILGTPDVGASSYEDYFSPDNLKERN---SEALPPE-AQaLSSPSLFH 438  Chinese hamster
XP_225006     383 L-KKRYKRKST-PAVQLFK---SDCSPQSTTRPIPGTPDVEASSYEDYFSPDNLKERN---SGRLP-E-AQlLASPSLFR 452  Norway rat
XP_005334413  358 VKKRRLSRKPVTPRSQL-R---LERGLLLAARPAPATPDSGE-SYEDYFSPDNLRERG---SEQSVPG--SpLPSPMQLG 427  thirteen-line...
XP_017168278  389 L-KKRYKRKSA-LAIQLFK---SDQSPPSTIRLIPGTPDVEASSYEDYFSPDNLKERN---SERLPPE-AQqLASPSLFH 459  house mouse
XP_012998870  367 PKRRRSSQRSSMPCTQLLR---SRYCLQFPFSSTVETPDSGASSYEDYFSPENLQERT---SGNYPSG-SQpLSCPAPLT 439  domestic guin...
XP_027818404  374 QKRRRSLGQRPAPRL---RlwkAESGLRSVQRAAVKNLALEEFSYDDYFSPDNLKERV---SEGLL-G-EQlPSRPPPLH 445  sheep
XP_023486251  475 CRRNLSKRERTTVLEM-------------SDFSCIGKNPGSIG-ITNLIAKTS-SSLQRPTNDERNTTLGFMASEGAS-- 537  horse
XP_007671505  305 QRVSLFRGKRKSLLGK-------------AEATQVCKKKTRLDqVSDGPAEERdAEPHQPGKWKGVLVAEPASERGIP-- 369  platypus
XP_007476295  446 SQKSVYRSKKRSILEN-------------SDYPNFSKRIKLIE-TSDNLVEECnCTLKKLPNSERNMSLNCNPYSEIP-- 509  gray short-ta...
EHB06907      443 C-RSLSKRERASILEM-------------SDLSCIGEKSTLVS-ITDLTAKTT-SSLQSPA---------CLAAEDTP-- 495  naked mole-rat
ERE89232      439 C-RSLSKWERRSILEM-------------CDFTSIGDKPRSIS-ITDSVSRST-SSLEKPDKEEVSTVVE-------T-- 493  Chinese hamster
XP_225006     453 C-KGLSKWERKNMLEM-------------CDFTCIGEKHRSTN-ISDLISKST-CSLEKPDKEDVNTASTCLPLLG-T-- 513  Norway rat
XP_005334413  428 C-RSLFKKRAKSLIEM-------------ADFSCIGESPRSVP-VTQLTAKTC-SQLQKPEKCAENPGSSRTAAGETP-- 489  thirteen-line...
XP_017168278  460 C-RGLSKWERRNMLEM-------------CDFTCIGEKHRSISsISDLISKSA-SSLEKPVKEEVNTASTCLLLVE-T-- 521  house mouse
XP_012998870  440 C-RSLSQRERANILEMscphlxxrkkqewSAF-------------TNLKAKAN-SRFQSPA---------CVAAEDTS-- 493  domestic guin...
XP_027818404  446 CQRSLSKTERTSLLDR-------------ADLSLIGRSPRPAV-GTCSTAKP------GPP--LERPALSRADAGL-Ggg 502  sheep
XP_023486251  538 ------AAGETPGFCGQAVPQTREDM-SEDGKSIsSCTISELALQKarvakEDHGDSTHWKGC---------------NK 595  horse
XP_007671505  370 ------TAIETPECSSRSDPEKIKSK-TDSGTRSkNSRL-------------RPGELMPRSGSvdggpdafpsverriTE 429  platypus
XP_007476295  510 ------NANEILGCYNEIDSQERERNiAIGGNNC-LHTADESVLMSqylesGSCDTLVSLERD---------------SK 567  gray short-ta...
EHB06907      496 ------AAEESPGCRGRAGSPQGDDA-GPTGSHH-PHNTHDPAGPG------QESSCSPVQGR---------------RA 546  naked mole-rat
ERE89232      494 ------SAKDSPEHCRQPDPQLREDT-ALQGSTH-ANTHNSPAHCS-----------MPSKGG---------------SK 539  Chinese hamster
XP_225006     514 ------SADDSPGQRRHPGPQPREDT-GPEGSSH-PDILYSPAHHI-----------TPLKGS---------------ST 559  Norway rat
XP_005334413  490 ------AAEDGQGGAGQAADARPRR---------------SPAPPE-----EREGDLCPPERS---------------GE 528  thirteen-line...
XP_017168278  522 ------SANDSPGLCSQPGPQLRDDT-GPEGSSH-PDTLSSSAHHI-----------TPLKGN---------------ST 567  house mouse
XP_012998870  494 ------AAEKNPECCRQAGHYQAEDA-GPTAGHH---ATHDPAGPW------QEGSCSPVVGS---------------RA 542  domestic guin...
XP_027818404  503 tsggtpAADGTPGPCPWAEAQGEGDA-RPAEGDT-LHTPSGLVPQT-----GPQGDPSPLTGS---------------RE 560  sheep
XP_023486251  596 EM----QELIDIQTRQK-EDTASKMLNSSEGETQS-----NYKLNFVGDCNVEKST-EESENLPRGCS 652  horse
XP_007671505  430 NPhpveRASVLAGTREKeDSANSETFSSGEGETPTakvteEHRLPFKDGSDVEGST-EEKESQPrtcv 496  platypus
XP_007476295  568 EVltnkKESIIPMNIQKkENINSEVFNSCESKKQ------DFNFIFKSDAALEKSV-KEMENPSRyiq 628  gray short-tailed opossum
EHB06907      547 E-----RELVGGRGTQK-EGPEAAVPNSPGRHTQK-----EFELHFGGDPHEEQSAeEEKENLALGYS 603  naked mole-rat
ERE89232      540 EE----REPVDVKGSPK-DNTTPPALASSEGEAHS--------FNFGGDCNIEKSA-EEKENKSTGYS 593  Chinese hamster
XP_225006     560 ET----RDPGDGKGSPK-EGTTPPASASPEGEAHS------CNLSLGEDRNV-----EEKENVATGYP 611  Norway rat
XP_005334413  529 DV----RGSLCVQSGQE-RGSPSSVLDPVNAGCFT------SKLNFEADYNVEKST-EEKENLPTAYS 584  thirteen-lined ground squ...
XP_017168278  568 ET----RDPGDGKGSPK-EGSTPPASASPEDEVHI------CNLSLGEDCNVEKSV-EEKENIATGYS 623  house mouse
XP_012998870  543 Q-----RELAGRRSIQK-EGPTAAVPESPVGQAQ------DCKLCLGE----EQPAeEEKENVALGYS 594  domestic guinea pig
XP_027818404  561 EM----EEWTDPQLTQK-DGAPPGTAESAA--AHS-----EGELSAAGDRAEGRSA-GAREAPAQGSS 615  sheep
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