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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Gene

SMARCAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. 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.2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi521 – 529ATPPROSITE-ProRule annotation9
Nucleotide bindingi897 – 904ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: UniProtKB
  • helicase activity Source: UniProtKB-KW
  • nucleic acid binding Source: UniProtKB

GO - Biological processi

  • ATP-dependent chromatin remodeling Source: UniProtKB
  • chromatin organization Source: UniProtKB
  • chromatin remodeling Source: UniProtKB
  • chromosome separation Source: UniProtKB
  • DNA double-strand break processing Source: UniProtKB
  • histone H3 deacetylation Source: UniProtKB
  • histone H4 deacetylation Source: UniProtKB
  • nucleotide metabolic process Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • regulation of DNA recombination Source: UniProtKB

Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ9H4L7.

Names & Taxonomyi

Protein namesi
Recommended name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC:3.6.4.12)
Alternative name(s):
ATP-dependent helicase 1
Short name:
hHEL1
Gene namesi
Name:SMARCAD1
Synonyms:KIAA1122
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163104.17.
HGNCiHGNC:18398. SMARCAD1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Adermatoglyphia (ADERM)2 Publications
The disease is caused by mutations 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.2 Publications
Disease descriptionAn 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.
See also OMIM:136000
Basan syndrome (BSNS)2 Publications
The disease is caused by mutations 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.2 Publications
Disease descriptionAn 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.
See also OMIM:129200

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi528K → R: No effect on subcellular localization and on histone deacetylation. 1 Publication1

Keywords - Diseasei

Ectodermal dysplasia

Organism-specific databases

DisGeNETi56916.
MalaCardsiSMARCAD1.
MIMi129200. phenotype.
136000. phenotype.
OpenTargetsiENSG00000163104.
Orphaneti289465. Isolated adermatoglyphia.
PharmGKBiPA134954731.

Polymorphism and mutation databases

BioMutaiSMARCAD1.
DMDMi306526240.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743561 – 1026SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1Add BLAST1026

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei54PhosphothreonineCombined sources1
Modified residuei57PhosphoserineCombined sources1
Modified residuei71PhosphothreonineCombined sources1
Cross-linki77Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei79PhosphoserineCombined sources1
Cross-linki84Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei124PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei132PhosphoserineCombined sources1
Modified residuei146PhosphoserineCombined sources1
Modified residuei152PhosphoserineCombined sources1
Modified residuei211PhosphoserineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Modified residuei217PhosphotyrosineCombined sources1
Modified residuei239PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Cross-linki335Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki724Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki996Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9H4L7.
MaxQBiQ9H4L7.
PaxDbiQ9H4L7.
PeptideAtlasiQ9H4L7.
PRIDEiQ9H4L7.

PTM databases

iPTMnetiQ9H4L7.
PhosphoSitePlusiQ9H4L7.

Expressioni

Tissue specificityi

Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus.2 Publications

Gene expression databases

BgeeiENSG00000163104.
CleanExiHS_SMARCAD1.
ExpressionAtlasiQ9H4L7. baseline and differential.
GenevisibleiQ9H4L7. HS.

Organism-specific databases

HPAiHPA016737.

Interactioni

Subunit structurei

Binds to DNA preferentially in the vicinity of transcriptional start sites. Interacts with MSH2 and TRIM28. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with PCNA.2 Publications

Protein-protein interaction databases

BioGridi121244. 141 interactors.
IntActiQ9H4L7. 6 interactors.
STRINGi9606.ENSP00000351947.

Structurei

3D structure databases

ProteinModelPortaliQ9H4L7.
SMRiQ9H4L7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini157 – 199CUE 1PROSITE-ProRule annotationAdd BLAST43
Domaini251 – 294CUE 2PROSITE-ProRule annotationAdd BLAST44
Domaini509 – 677Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini858 – 1010Helicase C-terminalPROSITE-ProRule annotationAdd BLAST153

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi628 – 631DEGH box4
Motifi721 – 738Nuclear localization signalSequence analysisAdd BLAST18
Motifi1005 – 1008DEGD box4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0389. Eukaryota.
ENOG410XNUT. LUCA.
GeneTreeiENSGT00900000140927.
HOGENOMiHOG000172362.
HOVERGENiHBG055804.
InParanoidiQ9H4L7.
KOiK14439.
OMAiKEHEWMY.
OrthoDBiEOG091G0307.
PhylomeDBiQ9H4L7.
TreeFamiTF105768.

Family and domain databases

CDDicd00079. HELICc. 1 hit.
InterProiView protein in InterPro
IPR003892. CUE.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
PfamiView protein in Pfam
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
SMARTiView protein in SMART
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiView protein in PROSITE
PS51140. CUE. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H4L7-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS
60 70 80 90 100
RANTPDSDIT EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED
110 120 130 140 150
VVSPNCSNTV QEKTFNKDTV IIVSEPSEDE ESQGLPTMAR RNDDISELED
160 170 180 190 200
LSELEDLKDA KLQTLKELFP QRSDNDLLKL IESTSTMDGA IAAALLMFGD
210 220 230 240 250
AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN ESAESSSNWE
260 270 280 290 300
KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
310 320 330 340 350
VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN
360 370 380 390 400
PKRVVEDSEY DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE
410 420 430 440 450
LTLIPQCSQK KAQKITELRP FNSWEALFTK MSKTNGLSED LIWHCKTLIQ
460 470 480 490 500
ERDVVIRLMN KCEDISNKLT KQVTMLTGNG GGWNIEQPSI LNQSLSLKPY
510 520 530 540 550
QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY QEGNNGPHLI
560 570 580 590 600
VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
610 620 630 640 650
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN
660 670 680 690 700
NRLLLTGTPV QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ
710 720 730 740 750
SIYEKERIAH AKQIIKPFIL RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL
760 770 780 790 800
YLGLFNRLKK SINNLEKNTE MCNVMMQLRK MANHPLLHRQ YYTAEKLKEM
810 820 830 840 850
SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI NNFQLDMDLI
860 870 880 890 900
LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL
910 920 930 940 950
DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID
960 970 980 990 1000
CNPYNDKQAE DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD
1010 1020
MTTVDEGDEG SMPADIATLL KTSMGL
Length:1,026
Mass (Da):117,402
Last modified:October 5, 2010 - v2
Checksum:i0A5DB5653F478413
GO
Isoform 2 (identifier: Q9H4L7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     765-765: L → LVT

Show »
Length:1,028
Mass (Da):117,603
Checksum:i0F1C3F3AB7224F23
GO
Isoform 3 (identifier: Q9H4L7-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-430: Missing.

Note: Skin-specific.
Show »
Length:596
Mass (Da):68,774
Checksum:i6BBB9C2EB02E2A97
GO

Sequence cautioni

Q9H4L7: The sequence AAH17953 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
Q9H4L7: The sequence BAA86436 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Q9H4L7: The sequence BAB14759 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti215E → D in AAH17953 (PubMed:15489334).Curated1
Sequence conflicti937N → D in BAB14759 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02803766S → F. Corresponds to variant dbSNP:rs11723410Ensembl.1
Natural variantiVAR_028038135L → F. Corresponds to variant dbSNP:rs2664891Ensembl.1
Natural variantiVAR_028039140R → C. Corresponds to variant dbSNP:rs2632398Ensembl.1
Natural variantiVAR_028040245S → Y. Corresponds to variant dbSNP:rs3103117Ensembl.1
Natural variantiVAR_028041247S → NCombined sources1 PublicationCorresponds to variant dbSNP:rs11722476Ensembl.1
Natural variantiVAR_028042301V → ACombined sources2 PublicationsCorresponds to variant dbSNP:rs7439869Ensembl.1
Natural variantiVAR_028043351P → Q1 PublicationCorresponds to variant dbSNP:rs17854344Ensembl.1
Natural variantiVAR_028044972V → A1 PublicationCorresponds to variant dbSNP:rs17857297Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0431101 – 430Missing in isoform 3. 1 PublicationAdd BLAST430
Alternative sequenceiVSP_007104765L → LVT in isoform 2. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008271 mRNA. Translation: AAG16639.1.
AB032948 mRNA. Translation: BAA86436.2. Different initiation.
AK023990 mRNA. Translation: BAB14759.1. Different initiation.
AK027490 mRNA. Translation: BAB55150.1.
AK301668 mRNA. Translation: BAH13535.1.
AC096746 Genomic DNA. No translation available.
BC017953 mRNA. Translation: AAH17953.1. Sequence problems.
BC045534 mRNA. Translation: AAH45534.1.
AL359929 mRNA. Translation: CAB95769.1.
AL512768 mRNA. Translation: CAC21685.1.
CCDSiCCDS3639.1. [Q9H4L7-1]
CCDS47101.1. [Q9H4L7-2]
CCDS58914.1. [Q9H4L7-3]
RefSeqiNP_001121901.1. NM_001128429.2. [Q9H4L7-2]
NP_001121902.1. NM_001128430.1. [Q9H4L7-2]
NP_001241878.1. NM_001254949.1. [Q9H4L7-3]
NP_064544.2. NM_020159.4. [Q9H4L7-1]
XP_016863952.1. XM_017008463.1. [Q9H4L7-1]
UniGeneiHs.410406.

Genome annotation databases

EnsembliENST00000354268; ENSP00000346217; ENSG00000163104. [Q9H4L7-1]
ENST00000359052; ENSP00000351947; ENSG00000163104. [Q9H4L7-2]
ENST00000457823; ENSP00000415576; ENSG00000163104. [Q9H4L7-2]
ENST00000509418; ENSP00000423286; ENSG00000163104. [Q9H4L7-3]
GeneIDi56916.
KEGGihsa:56916.
UCSCiuc003htb.5. human. [Q9H4L7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSMRCD_HUMAN
AccessioniPrimary (citable) accession number: Q9H4L7
Secondary accession number(s): B7Z799
, Q05D56, Q96SX1, Q9H017, Q9H860, Q9NPU9, Q9ULU7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: October 5, 2010
Last modified: October 25, 2017
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families