SMARCAD1
entrez
56916
canonical
uniprot
Q9H4L7
canonical
ensembl
ENSG00000163104
resolver
ensp
ENSP00000346217
resolver
ensp
ENSP00000351947
resolver
ensp
ENSP00000415576
resolver
ensp
ENSP00000423286
resolver
ensp
ENSP00000572338
resolver
ensp
ENSP00000572340
resolver
ensp
ENSP00000747985
resolver
genesymbol
SMARCAD1
resolver
genesymbol_syn
KIAA1122
resolver
hgnc
HGNC:18398
resolver
uniprot
B7Z799
resolver
uniprot
Q05D56
resolver
uniprot
Q96SX1
resolver
uniprot
Q9H017
resolver
uniprot
Q9H860
resolver
uniprot
Q9NPU9
resolver
uniprot
Q9ULU7
resolver
uniprot_entry
SMRCD_HUMAN
resolver
uniprot_sec
B7Z799
resolver
uniprot_sec
Q05D56
resolver
uniprot_sec
Q96SX1
resolver
uniprot_sec
Q9H017
resolver
uniprot_sec
Q9H860
resolver
uniprot_sec
Q9NPU9
resolver
uniprot_sec
Q9ULU7
resolver
amino_acid_sequence
MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDITEKTEDSSVPETPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTVIIVSEPSEDEESQGLPTMARRNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKLIESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDDQSIKKTRLDHGEESNESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQYVSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEYDSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRPFNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNGGGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLYQEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVIVTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPVQNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFILRRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTEMCNVMMQLRKMANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHINNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRLDGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAEDRCHRVGQTKEVLVIKLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLLKTSMGL
uniprot
proteins
disease_involvement
DISEASE: Adermatoglyphia (ADERM) [MIM:136000]: An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. {ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:24909267}. Note=The disease is caused by variants affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in ADERM. {ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:24909267}.; DISEASE: Basan syndrome (BSNS) [MIM:129200]: An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints. {ECO:0000269|PubMed:24664640, ECO:0000269|PubMed:26932190}. Note=The disease is caused by variants affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in BSNS. {ECO:0000269|PubMed:24664640, ECO:0000269|PubMed:26932190}.; DISEASE: Huriez syndrome (HRZ) [MIM:181600]: An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome. {ECO:0000269|PubMed:29409814}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: Protein that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization (PubMed:22960744, PubMed:21820097). Combines the ATP-dependent ability to exchange histones, with the chaperone-like ATP-independent activity to deposit histones and assemble nucleosomes (PubMed:21820097). Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs (PubMed:22960744). Required for the restoration of heterochromatin organization after replication (PubMed:21549307). Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing (PubMed:21549307). {ECO:0000269|PubMed:21549307, ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:22960744}.
uniprot
proteins
mass_dalton
117402
uniprot
proteins
mutagenesis
MUTAGEN 528; /note="K->R: No effect on subcellular localization and on histone deacetylation."; /evidence="ECO:0000269|PubMed:21549307
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at the C-terminus promotes histone binding but impedes nucleosome binding (PubMed:21820097). Phosphorylation impedes ATPase activity and histone exchange activity (PubMed:21820097). {ECO:0000269|PubMed:21820097}.
uniprot
proteins
protein_family
SNF2/RAD54 helicase family
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
11031099
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18675275
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21549307
uniprot
proteins
pubmed
21820097
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22960744
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24664640
uniprot
proteins
pubmed
24909267
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
26932190
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29409814
uniprot
proteins
pubmed
39424143
uniprot
proteins
sequence_length
1026
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18675275, ECO:0000269|PubMed:21549307, ECO:0000269|PubMed:22960744}. Chromosome {ECO:0000269|PubMed:18675275, ECO:0000269|PubMed:21549307, ECO:0000269|PubMed:22960744}. Note=Colocalizes with PCNA at replication forks during S phase (PubMed:21549307). Recruited to double-strand breaks (DSBs) sites of DNA damage (PubMed:22960744). {ECO:0000269|PubMed:21549307, ECO:0000269|PubMed:22960744}.
uniprot
proteins