B7ZKN7

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	B7ZKN7_HUMAN; B7ZKN7;
Entrez ID	641
GenBank Protein ID
GenBank Nucleotide ID
Protein Name	BLM protein
Gene Name	BLM
Organism	Homo sapiens
NCBI Taxa ID	9606
Sequence (Fasta)	MEHICKLIDT IPDDKLKLLD CGNELLQQRN IRRKLLTEVD FNKSDASLLG SLWRYRPDSL 60 DGPMEGDSCP TGNSMKELNF SHLPSNSVSP GDCLLTTTLG KTGFSATRKN LFERPLFNTH 120 LQKSFVSSNW AETPRLGKKN ESSYFPGNVL TSTAVKDQNK HTASINDLER ETQPSYDIDN 180 FDIDDFDDDD DWEDIMHNLA ASKSSTAAYQ PIKEGRPIKS VSERLSSAKT DCLPVSSTAQ 240 NINFSESIQN YTDKSAQNLA SRNLKHERFQ SLSFPHTKEM MKIFHKKFGL HNFRTNQLEA 300 INAALLGEDC FILMPTGGGK SLCYQLPACV SPGVTVVISP LRSLIVDQVQ KLTSLDIPAT 360 YLTGDKTDSE ATNIYLQLSK KDPIIKLLYV TPEKICASNR LISTLENLYE RKLLARFVID 420 EAHCVSQWGH DFRQDYKRMN MLRQKFPSVP VMALTATANP RVQKDILTQL KILRPQVFSM 480 SFNRHNLKYY VLPKKPKKVA FDCLEWIRKH HPYDSGIIYC LSRRECDTMA DTLQRDGLAA 540 LAYHAGLSDS ARDEVQQKWI NQDGCQVICA TIAFGMGIDK PDVRFVIHAS LPKSVEGYYQ 600 ESGRAGRDGE ISHCLLFYTY HDVTRLKRLI MMEKDGNHHT RETHFNNLYS MVHYCENITE 660 CRRIQLLAYF GENGFNPDFC KKHPDVSCDN CCKTKDYKTR DVTDDVKSIV RFVQEHSSSQ 720 GMRNIKHVGP SGRFTMNMLV DIFLGSKSAK IQSGIFGKGS AYSRHNAERL FKKLILDKIL 780 DEDLYINAND QAIAYVMLGN KAQTVLNDNL KVDFMETENS SSVKKQKALV AKVSQREEMV 840 KKCLGELTEV CKSLGKVFGV HYFNIFNTVT LKKLAESLSS DPEVLLQIDG VTEDKLEKYG 900 AEVISVLQKY SEWTSPAEDS SPGISLSSSR GPGRSAAEEL DEEIPVSSHY FASKTRNERK 960 RKKMPASQRS KRRKTASSGS KAKGGSATCR KISSKTKSSS IIGSSSASHT SQATSGANSK 1020 LGIMAPPKPI NRPFLKPSYA FS 1043 Fasta Sequence >B7ZKN7\|BLM\|Homo sapiens (Human) MEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSDASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERLSSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKDILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNDNLKVDFMETENSSSVKKQKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIPVSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSSSASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Phosphorylation	Bloom Syndrome		N		24108125
1	[Reference]: An S112A mutant of RMI2 localized normally in cells and was found in SAC-induced coimmunoprecipitations of the BTR complex

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	leukaemia, lymphoma, skin squamous cell, other tumour types Bloom syndrome
CTD (Curated) (count: 1)	MESH:D001816 ; Bloom Syndrome
HGMD (count: 70) (view all)	CD073574; Bloom syndrome; Small deletions CD994697; Bloom syndrome; Small deletions CD073575; Bloom syndrome; Small deletions CD984169; Bloom syndrome; Small deletions CD073576; Bloom syndrome; Small deletions CD073577; Bloom syndrome; Small deletions CD073578; Bloom syndrome; Small deletions CD973356; Bloom syndrome; Small deletions CD073583; Bloom syndrome; Small deletions CD973355; Bloom syndrome; Small deletions CD073579; Bloom syndrome; Small deletions CD073580; Bloom syndrome; Small deletions CD073581; Bloom syndrome; Small deletions CD951599; Bloom syndrome; Small deletions CD073582; Bloom syndrome; Small deletions CD973354; Bloom syndrome; Small deletions CG073805; Bloom syndrome; Gross deletions CG073806; Bloom syndrome; Gross deletions CG073807; Bloom syndrome; Gross deletions CG073808; Bloom syndrome; Gross deletions CX952002; Bloom syndrome; Small indels CI073732; Bloom syndrome; Small insertions CI073733; Bloom syndrome; Small insertions CI073734; Bloom syndrome; Small insertions CI073735; Bloom syndrome; Small insertions CI012284; Bloom syndrome; Small insertions CI910628; Bloom syndrome; Small insertions CI073736; Bloom syndrome; Small insertions CI073737; Bloom syndrome; Small insertions CM072896; Bloom syndrome; Missense/nonsense CM950137; Bloom syndrome; Missense/nonsense CM973006; Bloom syndrome; Missense/nonsense CM072901; Bloom syndrome; Missense/nonsense CM072904; Bloom syndrome; Missense/nonsense CM072892; Bloom syndrome; Missense/nonsense CM072903; Bloom syndrome; Missense/nonsense CM072897; Bloom syndrome; Missense/nonsense CM973007; Bloom syndrome; Missense/nonsense CM952086; Bloom syndrome; Missense/nonsense CM973008; Bloom syndrome; Missense/nonsense CM994683; Bloom syndrome; Missense/nonsense CM950138; Bloom syndrome; Missense/nonsense CM003917; Bloom syndrome; Missense/nonsense CM072902; Bloom syndrome; Missense/nonsense CM973009; Bloom syndrome; Missense/nonsense CM973010; Bloom syndrome; Missense/nonsense CM973011; Bloom syndrome; Missense/nonsense CM072888; Bloom syndrome; Missense/nonsense CM072894; Bloom syndrome; Missense/nonsense CM072899; Bloom syndrome; Missense/nonsense CM970166; Bloom syndrome; Missense/nonsense CM072889; Bloom syndrome; Missense/nonsense CM950139; Bloom syndrome; Missense/nonsense CM072905; Bloom syndrome; Missense/nonsense CM072906; Bloom syndrome; Missense/nonsense CM072893; Bloom syndrome; Missense/nonsense CM072900; Bloom syndrome; Missense/nonsense CM072898; Bloom syndrome; Missense/nonsense CM072891; Bloom syndrome; Missense/nonsense CM072895; Bloom syndrome; Missense/nonsense CM072890; Bloom syndrome; Missense/nonsense CS073437; Bloom syndrome; Splicing CS073438; Bloom syndrome; Splicing CS073439; Bloom syndrome; Splicing CS073440; Bloom syndrome; Splicing CS073441; Bloom syndrome; Splicing CS073442; Bloom syndrome; Splicing CS073443; Bloom syndrome; Splicing CS073444; Bloom syndrome; Splicing CS073445; Bloom syndrome; Splicing
GWASdb (count: 6)	rs2518968; Multiple complex diseases; Null rs17273206; Multiple complex diseases; Null rs10468106; Salmonella-induced pyroptosis; Null rs2227935; Breast cancer; breast cancer rs2380165; Osteoarthritis; osteoarthritis rs7167216; Breast cancer; breast cancer

※ PTM Sites

PTM	Modification Sites