Full text data of BBX
BBX
(HBP2)
[Confidence: low (only semi-automatic identification from reviews)]
HMG box transcription factor BBX (Bobby sox homolog; HMG box-containing protein 2)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
HMG box transcription factor BBX (Bobby sox homolog; HMG box-containing protein 2)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q8WY36
ID BBX_HUMAN Reviewed; 941 AA.
AC Q8WY36; Q2TAJ1; Q7L3J8; Q7LBY8; Q8NDB0; Q8WY35; Q9H0J6;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAR-2002, sequence version 1.
DT 22-JAN-2014, entry version 94.
DE RecName: Full=HMG box transcription factor BBX;
DE AltName: Full=Bobby sox homolog;
DE AltName: Full=HMG box-containing protein 2;
GN Name=BBX; Synonyms=HBP2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND FUNCTION.
RC TISSUE=Bone marrow;
RX PubMed=11680820; DOI=10.1007/s002940100241;
RA Sanchez-Diaz A., Blanco M.A., Jones N., Moreno S.;
RT "HBP2: a new mammalian protein that complements the fission yeast MBF
RT transcription complex.";
RL Curr. Genet. 40:110-118(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Lee C.-J., Chan W.-I., Appleby V.J., Orme A.T., Scotting P.J.;
RT "BBX is expressed in developing CNS and in neuronal tumours.";
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA Wambutt R., Korn B., Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and
RT analysis of 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-485 AND SER-822, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-844, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-243; SER-704 AND
RP SER-822, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
CC -!- FUNCTION: Transcription factor that is necessary for cell cycle
CC progression from G1 to S phase.
CC -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8WY36-1; Sequence=Displayed;
CC Name=2; Synonyms=BBXa;
CC IsoId=Q8WY36-2; Sequence=VSP_018006;
CC -!- SIMILARITY: Contains 1 HMG box DNA-binding domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI10904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF276948; AAL68984.1; -; mRNA.
DR EMBL; AF276949; AAL68985.1; -; mRNA.
DR EMBL; AF454941; AAL58870.1; -; mRNA.
DR EMBL; AF454942; AAL58871.1; -; mRNA.
DR EMBL; AL136769; CAB66703.1; -; mRNA.
DR EMBL; AL834307; CAD38977.1; -; mRNA.
DR EMBL; BC012837; AAH12837.2; -; mRNA.
DR EMBL; BC110903; AAI10904.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001136040.1; NM_001142568.2.
DR RefSeq; NP_064620.2; NM_020235.6.
DR RefSeq; XP_005247699.1; XM_005247642.1.
DR RefSeq; XP_005247700.1; XM_005247643.1.
DR RefSeq; XP_005247701.1; XM_005247644.1.
DR RefSeq; XP_005247702.1; XM_005247645.1.
DR RefSeq; XP_005247703.1; XM_005247646.1.
DR UniGene; Hs.124366; -.
DR UniGene; Hs.736885; -.
DR ProteinModelPortal; Q8WY36; -.
DR SMR; Q8WY36; 80-153.
DR IntAct; Q8WY36; 2.
DR STRING; 9606.ENSP00000319974; -.
DR PhosphoSite; Q8WY36; -.
DR DMDM; 74724044; -.
DR PaxDb; Q8WY36; -.
DR PRIDE; Q8WY36; -.
DR DNASU; 56987; -.
DR Ensembl; ENST00000325805; ENSP00000319974; ENSG00000114439.
DR Ensembl; ENST00000406780; ENSP00000385530; ENSG00000114439.
DR Ensembl; ENST00000415149; ENSP00000408358; ENSG00000114439.
DR GeneID; 56987; -.
DR KEGG; hsa:56987; -.
DR UCSC; uc010hpr.4; human.
DR CTD; 56987; -.
DR GeneCards; GC03P107241; -.
DR HGNC; HGNC:14422; BBX.
DR HPA; HPA006049; -.
DR neXtProt; NX_Q8WY36; -.
DR PharmGKB; PA25280; -.
DR eggNOG; NOG305473; -.
DR HOVERGEN; HBG079777; -.
DR InParanoid; Q8WY36; -.
DR OMA; FQFAEIS; -.
DR OrthoDB; EOG77DJ8X; -.
DR PhylomeDB; Q8WY36; -.
DR ChiTaRS; BBX; human.
DR GeneWiki; BBX_(gene); -.
DR GenomeRNAi; 56987; -.
DR NextBio; 62675; -.
DR PRO; PR:Q8WY36; -.
DR ArrayExpress; Q8WY36; -.
DR Bgee; Q8WY36; -.
DR CleanEx; HS_BBX; -.
DR Genevestigator; Q8WY36; -.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0060348; P:bone development; IEA:Ensembl.
DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:UniProtKB-KW.
DR GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR019102; TF_HMG_box_BBX_DUF2028.
DR Pfam; PF09667; DUF2028; 1.
DR Pfam; PF00505; HMG_box; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; DNA-binding;
KW Nucleus; Phosphoprotein; Polymorphism; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1 941 HMG box transcription factor BBX.
FT /FTId=PRO_0000232885.
FT DNA_BIND 80 148 HMG box.
FT COILED 326 370 Potential.
FT COMPBIAS 41 50 Poly-Glu.
FT COMPBIAS 446 542 Lys-rich.
FT COMPBIAS 671 773 Lys-rich.
FT MOD_RES 243 243 Phosphoserine.
FT MOD_RES 485 485 Phosphoserine.
FT MOD_RES 704 704 Phosphoserine.
FT MOD_RES 822 822 Phosphoserine.
FT MOD_RES 844 844 Phosphoserine.
FT VAR_SEQ 735 764 Missing (in isoform 2).
FT /FTId=VSP_018006.
FT VARIANT 576 576 P -> S (in dbSNP:rs59781647).
FT /FTId=VAR_061264.
SQ SEQUENCE 941 AA; 105130 MW; E45B359A602B5D8D CRC64;
MKGSNRNKDH SAEGEGVGKR PKRKCLQWHP LLAKKLLDFS EEEEEEDEEE DIDKVQLLGA
DGLEQDVGET EDDESPEQRA RRPMNAFLLF CKRHRSLVRQ EHPRLDNRGA TKILADWWAV
LDPKEKQKYT DMAKEYKDAF MKANPGYKWC PTTNKPVKSP TPTVNPRKKL WAFPSDSSRD
LPSPKKAKTE EMPQLNFGMA DPTQMGGLSM LLLAGEHALG TPEVSSGTCR PDVSESPELR
QKSPLFQFAE ISSSTSHSDA STKQCQTSAL FQFAEISSNT SQLGGAEPVK RCGKSALFQL
AEMCLASEGM KMEESKLIKA KESDGGRIKE LEKGKEEKEI KMEKTDETRL QKEAEFEKSA
KENLRDSKEL RNFEALQIDD IMAIKMEDPK EIRKEELEED HKCSHFPDFS YSASSKIIIS
DVPSRKDHMC HPHGIMIIED PAALNKPEKL KKKKKKSKMD RHGNDKSTPK KTCKKRQSSE
SDIESVIYTI EAVAKGDWGI EKLGDTPRKK VRTSSSGKGS ILDAKPPKKK VKSREKKMSK
EKSSDTTKES RPPDFISISA SKNISGETPE GIKAEPLTPM EDALPPSLSG QAKPEDSDCH
RKIETCGSRK SERSCKGALY KTLVSEGMLT SLRANVDRGK RSSGKGNSSD HEGCWNEESW
TFSQSGTSGS KKFKKTKPKE DCLLGSAKLD EEFEKKFNSL PQYSPVTFDR KCVPVPRKKK
KTGNVSSEPT KTSKGPFQSQ KKNLFHKIVS KYKHKKEKPN VPEKGSGDKW SNKQLFLDAI
HPTEAIFSED RNTMEPVHKV KNIPSIFNTP EPTTTQEPLV GSQKRKARKT KITHLVRTAD
GRVSPAGGTL DDKPKEQLQR SLPKATETDC NDKCSHNTEV GETRSSTPEM PAVSAFFSLA
ALAEVAAMEN VHRGQRSTPL THDGQPKEMP QAPVLISCAD Q
//
ID BBX_HUMAN Reviewed; 941 AA.
AC Q8WY36; Q2TAJ1; Q7L3J8; Q7LBY8; Q8NDB0; Q8WY35; Q9H0J6;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAR-2002, sequence version 1.
DT 22-JAN-2014, entry version 94.
DE RecName: Full=HMG box transcription factor BBX;
DE AltName: Full=Bobby sox homolog;
DE AltName: Full=HMG box-containing protein 2;
GN Name=BBX; Synonyms=HBP2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND FUNCTION.
RC TISSUE=Bone marrow;
RX PubMed=11680820; DOI=10.1007/s002940100241;
RA Sanchez-Diaz A., Blanco M.A., Jones N., Moreno S.;
RT "HBP2: a new mammalian protein that complements the fission yeast MBF
RT transcription complex.";
RL Curr. Genet. 40:110-118(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Lee C.-J., Chan W.-I., Appleby V.J., Orme A.T., Scotting P.J.;
RT "BBX is expressed in developing CNS and in neuronal tumours.";
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA Wambutt R., Korn B., Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and
RT analysis of 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-485 AND SER-822, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-844, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-243; SER-704 AND
RP SER-822, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
CC -!- FUNCTION: Transcription factor that is necessary for cell cycle
CC progression from G1 to S phase.
CC -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8WY36-1; Sequence=Displayed;
CC Name=2; Synonyms=BBXa;
CC IsoId=Q8WY36-2; Sequence=VSP_018006;
CC -!- SIMILARITY: Contains 1 HMG box DNA-binding domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI10904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF276948; AAL68984.1; -; mRNA.
DR EMBL; AF276949; AAL68985.1; -; mRNA.
DR EMBL; AF454941; AAL58870.1; -; mRNA.
DR EMBL; AF454942; AAL58871.1; -; mRNA.
DR EMBL; AL136769; CAB66703.1; -; mRNA.
DR EMBL; AL834307; CAD38977.1; -; mRNA.
DR EMBL; BC012837; AAH12837.2; -; mRNA.
DR EMBL; BC110903; AAI10904.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001136040.1; NM_001142568.2.
DR RefSeq; NP_064620.2; NM_020235.6.
DR RefSeq; XP_005247699.1; XM_005247642.1.
DR RefSeq; XP_005247700.1; XM_005247643.1.
DR RefSeq; XP_005247701.1; XM_005247644.1.
DR RefSeq; XP_005247702.1; XM_005247645.1.
DR RefSeq; XP_005247703.1; XM_005247646.1.
DR UniGene; Hs.124366; -.
DR UniGene; Hs.736885; -.
DR ProteinModelPortal; Q8WY36; -.
DR SMR; Q8WY36; 80-153.
DR IntAct; Q8WY36; 2.
DR STRING; 9606.ENSP00000319974; -.
DR PhosphoSite; Q8WY36; -.
DR DMDM; 74724044; -.
DR PaxDb; Q8WY36; -.
DR PRIDE; Q8WY36; -.
DR DNASU; 56987; -.
DR Ensembl; ENST00000325805; ENSP00000319974; ENSG00000114439.
DR Ensembl; ENST00000406780; ENSP00000385530; ENSG00000114439.
DR Ensembl; ENST00000415149; ENSP00000408358; ENSG00000114439.
DR GeneID; 56987; -.
DR KEGG; hsa:56987; -.
DR UCSC; uc010hpr.4; human.
DR CTD; 56987; -.
DR GeneCards; GC03P107241; -.
DR HGNC; HGNC:14422; BBX.
DR HPA; HPA006049; -.
DR neXtProt; NX_Q8WY36; -.
DR PharmGKB; PA25280; -.
DR eggNOG; NOG305473; -.
DR HOVERGEN; HBG079777; -.
DR InParanoid; Q8WY36; -.
DR OMA; FQFAEIS; -.
DR OrthoDB; EOG77DJ8X; -.
DR PhylomeDB; Q8WY36; -.
DR ChiTaRS; BBX; human.
DR GeneWiki; BBX_(gene); -.
DR GenomeRNAi; 56987; -.
DR NextBio; 62675; -.
DR PRO; PR:Q8WY36; -.
DR ArrayExpress; Q8WY36; -.
DR Bgee; Q8WY36; -.
DR CleanEx; HS_BBX; -.
DR Genevestigator; Q8WY36; -.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0060348; P:bone development; IEA:Ensembl.
DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:UniProtKB-KW.
DR GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR019102; TF_HMG_box_BBX_DUF2028.
DR Pfam; PF09667; DUF2028; 1.
DR Pfam; PF00505; HMG_box; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; DNA-binding;
KW Nucleus; Phosphoprotein; Polymorphism; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1 941 HMG box transcription factor BBX.
FT /FTId=PRO_0000232885.
FT DNA_BIND 80 148 HMG box.
FT COILED 326 370 Potential.
FT COMPBIAS 41 50 Poly-Glu.
FT COMPBIAS 446 542 Lys-rich.
FT COMPBIAS 671 773 Lys-rich.
FT MOD_RES 243 243 Phosphoserine.
FT MOD_RES 485 485 Phosphoserine.
FT MOD_RES 704 704 Phosphoserine.
FT MOD_RES 822 822 Phosphoserine.
FT MOD_RES 844 844 Phosphoserine.
FT VAR_SEQ 735 764 Missing (in isoform 2).
FT /FTId=VSP_018006.
FT VARIANT 576 576 P -> S (in dbSNP:rs59781647).
FT /FTId=VAR_061264.
SQ SEQUENCE 941 AA; 105130 MW; E45B359A602B5D8D CRC64;
MKGSNRNKDH SAEGEGVGKR PKRKCLQWHP LLAKKLLDFS EEEEEEDEEE DIDKVQLLGA
DGLEQDVGET EDDESPEQRA RRPMNAFLLF CKRHRSLVRQ EHPRLDNRGA TKILADWWAV
LDPKEKQKYT DMAKEYKDAF MKANPGYKWC PTTNKPVKSP TPTVNPRKKL WAFPSDSSRD
LPSPKKAKTE EMPQLNFGMA DPTQMGGLSM LLLAGEHALG TPEVSSGTCR PDVSESPELR
QKSPLFQFAE ISSSTSHSDA STKQCQTSAL FQFAEISSNT SQLGGAEPVK RCGKSALFQL
AEMCLASEGM KMEESKLIKA KESDGGRIKE LEKGKEEKEI KMEKTDETRL QKEAEFEKSA
KENLRDSKEL RNFEALQIDD IMAIKMEDPK EIRKEELEED HKCSHFPDFS YSASSKIIIS
DVPSRKDHMC HPHGIMIIED PAALNKPEKL KKKKKKSKMD RHGNDKSTPK KTCKKRQSSE
SDIESVIYTI EAVAKGDWGI EKLGDTPRKK VRTSSSGKGS ILDAKPPKKK VKSREKKMSK
EKSSDTTKES RPPDFISISA SKNISGETPE GIKAEPLTPM EDALPPSLSG QAKPEDSDCH
RKIETCGSRK SERSCKGALY KTLVSEGMLT SLRANVDRGK RSSGKGNSSD HEGCWNEESW
TFSQSGTSGS KKFKKTKPKE DCLLGSAKLD EEFEKKFNSL PQYSPVTFDR KCVPVPRKKK
KTGNVSSEPT KTSKGPFQSQ KKNLFHKIVS KYKHKKEKPN VPEKGSGDKW SNKQLFLDAI
HPTEAIFSED RNTMEPVHKV KNIPSIFNTP EPTTTQEPLV GSQKRKARKT KITHLVRTAD
GRVSPAGGTL DDKPKEQLQR SLPKATETDC NDKCSHNTEV GETRSSTPEM PAVSAFFSLA
ALAEVAAMEN VHRGQRSTPL THDGQPKEMP QAPVLISCAD Q
//