Property Summary

NCBI Gene PubMed Count 20
PubMed Score 13.09
PubTator Score 32.88

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9H4L7 B7Z799 Q05D56 Q96SX1 Q9H017 Q9H860 Q9NPU9 Q9ULU7
Symbols ETL1
HEL1
ADERM

Gene

Gene RIF (5)

PMID Text
24909267 These data indicate a pivotal role for the SMARCAD1-skin specific isoform in dermatoglyph formation, ADG and epidermal differientation gene expression
22960744 findings unveil an evolutionarily conserved role for the Fun30 and SMARCAD1 chromatin remodellers in controlling end resection, homologous recombination and genome stability in the context of chromatin
21820097 The existence of a short isoform of SMARCAD1 exclusively expressed in the skin, is demonstrated.
21549307 Findings suggest that chromatin remodeling by SMARCAD1 ensures that silenced loci, such as pericentric heterochromatin, are correctly perpetuated.
18675275 Results suggest a novel model for gene regulation via the SMARCAD1/KIAA1122 protein complex.

AA Sequence

MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDITEKTEDSSVPE      1 - 70
TPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTVIIVSEPSEDEESQGLPTMAR     71 - 140
RNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKLIESTSTMDGAIAAALLMFGDAGGGPRKRKL    141 - 210
SSSSEPYEEDEFNDDQSIKKTRLDHGEESNESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEW    211 - 280
MYTEALESLKVFAEDQDMQYVSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFN    281 - 350
PKRVVEDSEYDSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRP    351 - 420
FNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNGGGWNIEQPSI    421 - 490
LNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLYQEGNNGPHLIVVPASTIDNW    491 - 560
LREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVIVTTYNCAISSSDDRSLFRRLKLNYAIFDEG    561 - 630
HMLKNMGSIRYQHLMTINANNRLLLTGTPVQNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQ    631 - 700
SIYEKERIAHAKQIIKPFILRRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTE    701 - 770
MCNVMMQLRKMANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHI    771 - 840
NNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRLDGKTQISERI    841 - 910
HLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAEDRCHRVGQTKEVLVIKLISQ    911 - 980
GTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLLKTSMGL                            981 - 1026
//

Text Mined References (34)

PMID Year Title
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
24909267 2014 Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22960744 2012 The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection.
22864933 2012 Identification of novel germline polymorphisms governing capecitabine sensitivity.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
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