Gene: Rad54b

Basic information

Tag Content
Uniprot ID Q6PFE3; A2AIV0;
Entrez ID 623474
Genbank protein ID AAH57604.1
Genbank nucleotide ID NM_001039556.3
Ensembl protein ID ENSMUSP00000066977
Ensembl nucleotide ID ENSMUSG00000078773
Gene name DNA repair and recombination protein RAD54B
Gene symbol Rad54b
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.
Sequence
MRRSAAPSQV QGKSFKKTRF IPPGRSNADV SKEITKMSPD PKLFQGAEQS QNDPGVCSSN 60
PCPSEGIPRE VGDGTRVDPL PPVHSASKEI TESKAQEEEA SSLLKYFSVV WCKASKKKHK 120
KWEGDAILIV RGRSFTLKDL EGKDIGRGIG YKFKDLENVE EGQTLIIGGK EIEILGTISS 180
DDFNSGKCFQ HGSGSPAVPS SQAARKCFSN PFKSVCQSTQ AQGKRWNDCR PRHNPCTPNA 240
LVMPRPDENH QRMFNRHCSP IVDVVIDPHL VHHLRPHQKD GIIFLYECVM GMRAVGKCGA 300
ILADEMGLGK TLQCISLIWT LQCQGPYGGK PVIKKTLIVT PGSLVNNWRK EFQKWLGSER 360
IKIFTVDQDH KVEEFINSTF HSVLIISYEM LLRSLDQIKT IPFGLLICDE GHRLKNSSIK 420
TTTALSSLSC EKTVILTGTP VQNDLQEFFA LVDFVNPGIL GSLSSYRKIY EEPIIISREP 480
SSSKEERELG ERRATELTRL TGRFILRRTQ EVINKYLPPK IENVVFCRPG ALQIELYRKL 540
LRSQSVRFCL QGLLENSAHL ICIGALKKLC NHPCLLFSSV KGKEFSSSCE ENEERNLCQG 600
LLSVFPAGYN PLQFSEEESG KLQVLVKLLA VIHELRPTEK VILVSNYRQT LNVLEEVCKR 660
HGYACARLDG QTPVSQRQHI VDSFNSKYST DFIFLLSSKA GGVGLNLIGG SHLILYDIDW 720
NPATDIQAMS RVWRDGQKHP VHIYRLLTTG TIEEKIYQRQ ISKQGLSGAV VDLTRSSEHI 780
QFSVEELKNL FTLHESSHCV THDLLDCECT GEKGHTEDAS EGPVASRQCQ FGPQKSDALR 840
PLSMSQLKQW KHFSGDHLNL PDPFLERIRE NVSFFFQNIT NQAPAV 886

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 structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRAD54B533414F1MSA4Bos taurusPredictionMore>>
1:1 orthologRAD54B487053F1PW14Canis lupus familiarisPredictionMore>>
1:1 orthologFSBP102186978A0A452DW56Capra hircusPredictionMore>>
1:1 orthologRAD54B25788Q9Y620Homo sapiensPublicationMore>>
1:1 orthologRad54b623474Q6PFE3Mus musculusPredictionMore>>
1:1 orthologRad54b313063F1LYB7Rattus norvegicusPredictionMore>>
1:1 ortholograd54b560482E9QHY4Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RAD54Brs12681366-CT (protective)HI-SNP 30172247
RAD54Brs12681366A>G; GWAS28232668
RAD54Brs957448A>GGWAS28232668

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003677 DNA bindingIEA
GO:0004386 helicase activityIEA
GO:0005524 ATP bindingIEA
GO:0015616 DNA translocase activityISO
GO:0015616 DNA translocase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000724 double-strand break repair via homologous recombinationIGI
GO:0000724 double-strand break repair via homologous recombinationISO
GO:0000724 double-strand break repair via homologous recombinationIMP
GO:0000724 double-strand break repair via homologous recombinationIBA
GO:0006974 cellular response to DNA damage stimulusIMP
GO:0006974 cellular response to DNA damage stimulusIGI
GO:0007131 reciprocal meiotic recombinationIBA
GO:0008340 determination of adult lifespanIGI
GO:0010212 response to ionizing radiationIMP
GO:0010212 response to ionizing radiationIGI
GO:0042493 response to drugIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIBA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0067 ATP-binding
KW-0227 DNA damage
KW-0234 DNA repair
KW-0238 DNA-binding
KW-0347 Helicase
KW-0378 Hydrolase
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

PROSITE

PROSITE ID PROSITE Term
PS51192 HELICASE_ATP_BIND_1
PS51194 HELICASE_CTER

Pfam

Pfam ID Pfam Term
PF00271 Helicase_C
PF00176 SNF2_N

Protein-miRNA interaction