Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8208
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Chromatin assembly factor 1 subunit B |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CHAF1B |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CAF-1, CAF-IP60, CAF1, CAF1A, CAF1P60, MPHOSPH7, MPP7 |
Chromosome
Chromosome number
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21 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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21q22.12-q22.13 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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 |
|
Sequence length |
559 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder |
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 View all (32 more) |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental retardation |
intellectual disability |
|
|
GenCC |
Hypertension |
Hypertension |
|
|
GWAS |
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