Gene: BLM

Basic information

Tag Content
Uniprot ID A0A5G2R540
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSSSCP00000072344
Ensembl nucleotide ID ENSSSCG00000001816
Gene name BLM RecQ like helicase
Gene symbol BLM
Organism Sus scrofa
NCBI taxa ID 9823
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MRETGIMAAI PQNNLQEQLE RHSARKLNNK LSLSKPKSSG FTFKKKAPSA KDLSITSVSV 60
AKTPVLSDKD VNVTEAFSFS EPLSHTTDQH KRINDFKNTP AGQQTKRVSS QQPLLPDLSQ 120
VPQEVLCTSQ NTPVIKESRD ATFKKLEFSS SSDSCITFND WDDMDDFDTS GNSKTFVTPL 180
RNNFVRVSTA QKSKKSKRNF LKSQFDKINT VKTDLIPPSS ESKQAYLTKK QKDDSEWLSS 240
DVICIDDDDP NSEEHINEDT QENRSLKTHL EEKRDNCEKE KSLEETELHS VEKSSCIELN 300
EDDYDIDYVP PSPEEGMTST SSSSLKCSSM LKDLDTSDRR DGLGTSEDLS EPEKMTSQQP 360
NPETSTNCEA GQINVQQQLI RVMDHICKLL DTIPDDKLKA LDCGNELLQQ RDMRRKLLAE 420
ADFNTCDASA LALLWRCRPA SLGSPVASVS SPSAFPNGNS CPTGNSVKEL AFPHCLSNSF 480
SSGEHLLTTT PGKTGFSATT KTVFERPPFN SHLQKSFVSS NWAETPRVEK RNESSYFPGN 540
VLTSTAVKDQ NKHTTSINDL EREIQASCDI DNFDIDDFDD DDDDWENMMH NLAASKSSTA 600
VYQPIKEGRP VKSVSERISS AKTDSLPVAS TAQNKNFSES IHNYTDKSEQ NLTSRNLKHK 660
HFQSLNFPHT KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG GGKSLCYQLP 720
ACVSSGVTIV ISPLRSLIVD QVQKLTSLDI PATYLTGDKT DSEATSIYLQ LSKKDPIIKL 780
LYVTPEKVCA SNRLISTLEN LYNRKLLARF VIDEAHCVSQ WGHDFRPDYK RMNMLRQKFP 840
SVPVMALTAT ANPRVQKDIL TQLKILRPQV FTMSFNRHNL KYYVLPKKPK KVAFDCLEWI 900
RKHHPHDSGI IYCLSRRECD TMADTLQKDG LAALAYHAGL SDSARDEVQH KWINQDGCQV 960
ICATIAFGMG IDKPDVRFVI HASLPKSVEG YYQESGRAGR DGEISQCLLF YTYHDVTRLK 1020
RLILMEKDGN HHTKETHFNN LYSMVHYCEN IAECRRIQLL AYFGENEFNP NFCKKYPDVS 1080
CDNCCKTKDY KTRDVTDDVK NIVRFVQEHS SSRGARNIGS SGRFTMNMLV DIFLGSKSAK 1140
LQSGIFGKGS AYSRHNAERL FKKLILDKIL DEDLYINAND QPIAYIMLGD KAQAVLNGHL 1200
KVDFMETENS SSVKKQKALV AKVSQREEMV KKCLGELTEV CKSLGKVFGV HYFNIFNTTT 1260
LKKLAESLSS DPEVLLQIDG VTEDKLEKYG AEVIPILQKY SEWTVPAEDN SPRRSPSSCR 1320
GSGRNAPEEL DEETLISSHY FANKTKNERK RKRIPASQRS KRRKTSFSGS KAKG 1374

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologBLM100685609E2RS76Canis lupus familiarisPredictionMore>>
1:1 orthologBLMA0A452E3H5Capra hircusPredictionMore>>
1:1 orthologBLM641P54132CL/PHomo sapiensPublicationMore>>
1:1 orthologBlm12144O88700Mus musculusPredictionMore>>
1:1 orthologBLMA0A2I3SP55Pan troglodytesPredictionMore>>
1:1 orthologBLMA0A5G2R540Sus scrofaPredictionMore>>
1:1 orthologBLM100345123G1T6H2Oryctolagus cuniculusPredictionMore>>
1:1 orthologBlmD3ZQW1Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005634 nucleus
GO:0043138 3'-5' DNA helicase activity
GO:0005524 ATP binding
GO:0003677 DNA binding
GO:0006310 DNA recombination
GO:0006281 DNA repair
GO:0006260 DNA replication

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR012532 BDHCT
IPR032439 BDHCT_assoc
IPR032437 BLM_N
IPR011545 DEAD/DEAH_box_helicase_dom
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR010997 HRDC-like_sf
IPR002121 HRDC_dom
IPR027417 P-loop_NTPase
IPR032284 RecQ_Zn-bd
IPR018982 RQC_domain
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS00690 DEAH_ATP_HELICASE
PS51192 HELICASE_ATP_BIND_1
PS51194 HELICASE_CTER
PS50967 HRDC

Pfam

Pfam ID Pfam Term
PF08072 BDHCT
PF16204 BDHCT_assoc
PF16202 BLM_N
PF00270 DEAD
PF00271 Helicase_C
PF00570 HRDC
PF16124 RecQ_Zn_bind
PF09382 RQC