Gene Gene information from NCBI Gene database.
Entrez ID 8208
Gene name Chromatin assembly factor 1 subunit B
Gene symbol CHAF1B
Synonyms (NCBI Gene)
CAF-1CAF-IP60CAF1CAF1ACAF1P60MPHOSPH7MPP7
Chromosome 21
Chromosome location 21q22.12-q22.13
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs140630794 A>C,G Likely-pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
326
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 9614144, 14718166
GO:0003682 Function Chromatin binding TAS 7600578
GO:0005515 Function Protein binding IPI 16980972, 24981860, 27705803, 28514442, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601245 1911 ENSG00000159259
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Attention deficit hyperactivity disorder Likely pathogenic rs140630794 RCV000162182
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic rs140630794 RCV000162182
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs140630794 RCV000162182
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOUTH DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma Breast Carcinoma BEFREE 21083601
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 33109754 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21083601
★☆☆☆☆
Found in Text Mining only
Carcinoma of larynx Laryngeal carcinoma BEFREE 28374866
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 23109837
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome LHGDN 15068244
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 8660983, 8792829
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 24039914 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)