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CHAF1B (chromatin assembly factor 1 subunit B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8208
Gene nameGene Name - the full gene name approved by the HGNC.
Chromatin assembly factor 1 subunit B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CHAF1B
SynonymsGene synonyms aliases
CAF-1, CAF-IP60, CAF1, CAF1A, CAF1P60, MPHOSPH7, MPP7
ChromosomeChromosome number
21
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.12-q22.13
SummarySummary of gene provided in NCBI Entrez Gene.
Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is require
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140630794 A>C,G Likely-pathogenic Intron variant, missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016399 hsa-miR-193b-3p Microarray 20304954
MIRT020576 hsa-miR-155-5p Proteomics 18668040
MIRT023664 hsa-miR-1-3p Proteomics 18668040
MIRT042223 hsa-miR-484 CLASH 23622248
MIRT517897 hsa-miR-1277-5p HITS-CLIP 21572407
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 14718166
GO:0003682 Function Chromatin binding TAS 7600578
GO:0005515 Function Protein binding IPI 16980972, 24981860, 27705803, 28514442
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus NAS 9614144
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q13112
Protein name Chromatin assembly factor 1 subunit B (CAF-1 subunit B) (Chromatin assembly factor I p60 subunit) (CAF-I 60 kDa subunit) (CAF-I p60) (M-phase phosphoprotein 7)
Protein function Acts as a component of the histone chaperone complex chromatin assembly factor 1 (CAF-1), which assembles histone octamers onto DNA during replication and repair. CAF-1 performs the first step of the nucleosome assembly process, bringing newly s
PDB 7Y5K , 7Y5L , 7Y5O , 7Y5U , 7Y5V , 7Y60 , 7Y61 , 8IQF , 8IQG , 8J6S , 8J6T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40
57 94
WD domain, G-beta repeat
Repeat
PF00400 WD40
119 157
WD domain, G-beta repeat
Repeat
PF00400 WD40
161 199
WD domain, G-beta repeat
Repeat
PF15512 CAF-1_p60_C
381 555
Chromatin assembly factor complex 1 subunit p60, C-terminal
Domain
Sequence
MKVITCEIAWHNKEPVYSLDFQHGTAGRIHRLASAGVDTNVRIWKVEKGPDGKAIVEFLS
NLARHTKAVNVVRFSPTGEILASGGDDAVILLWK
VNDNKEPEQIAFQDEDEAQLNKENWT
VVKTLRGHLEDVYDICWATDGNLMASASVDNTAIIWD
VSKGQKISIFNEHKSYVQGVTWD
PLGQYVATLSCDRVLRVYS
IQKKRVAFNVSKMLSGIGAEGEARSYRMFHDDSMKSFFRRL
SFTPDGSLLLTPAGCVESGENVMNTTYVFSRKNLKRPIAHLPCPGKATLAVRCCPVYFEL
RPVVETGVELMSLPYRLVFAVASEDSVLLYDTQQSFPFGYVSNIHYHTLSDISWSSDGAF
LAISSTDGYCSFVTFEKDELGIPLKEKPVLNMRTPDTAKKTKSQTHRGSSPGPRPVEGTP
ASRTQDPSSPGTTPPQARQAPAPTVIRDPPSITPAVKSPLPGPSEEKTLQPSSQNTKAHP
SRRVTLNTLQAWSKTTPRRINLTPLKTDTPPSSVPTSVISTPSTEEIQSETPGDAQGSPP
ELKRPRLDENKGGTE
SLDP
Sequence length 559
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Liver carcinoma Liver carcinoma 28284560
Mouth diseases Mouth Diseases 17682004

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