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Q9H4L7

- SMRCD_HUMAN

UniProt

Q9H4L7 - SMRCD_HUMAN

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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: 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi521 – 5299ATPPROSITE-ProRule annotation
Nucleotide bindingi897 – 9048ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. DNA binding Source: UniProtKB
  3. helicase activity Source: UniProtKB-KW
  4. nucleic acid binding Source: UniProtKB

GO - Biological processi

  1. ATP-dependent chromatin remodeling Source: UniProtKB
  2. chromatin modification Source: UniProtKB
  3. chromatin remodeling Source: UniProtKB
  4. chromosome separation Source: UniProtKB
  5. DNA double-strand break processing Source: UniProtKB
  6. histone H3 deacetylation Source: UniProtKB
  7. histone H4 deacetylation Source: UniProtKB
  8. nucleotide metabolic process Source: UniProtKB
  9. positive regulation of transcription, DNA-templated Source: UniProtKB
  10. protein homooligomerization Source: UniProtKB
  11. regulation of DNA recombination Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Helicase, Hydrolase

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:18398. SMARCAD1.

Subcellular locationi

Nucleus. Chromosome
Note: Colocalizes with PCNA at replication forks during S phase. Recruited to double-strand breaks (DSBs) sites of DNA damage.

GO - Cellular componenti

  1. heterochromatin Source: UniProtKB
  2. nuclear matrix Source: UniProtKB
  3. nuclear replication fork Source: UniProtKB
  4. nucleus Source: HPA
  5. site of double-strand break Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation causing aberrant splicing of isoform 3 is likely to exert a loss-of-function effect and is associated with ADERM.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi528 – 5281K → R: No effect on subcellular localization and on histone deacetylation. 1 Publication

Organism-specific databases

MIMi136000. phenotype.
Orphaneti289465. Isolated adermatoglyphia.
PharmGKBiPA134954731.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10261026SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1PRO_0000074356Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei54 – 541Phosphothreonine2 Publications
Modified residuei57 – 571Phosphoserine1 Publication
Modified residuei79 – 791Phosphoserine1 Publication
Modified residuei124 – 1241Phosphoserine6 Publications
Modified residuei127 – 1271Phosphoserine6 Publications
Modified residuei132 – 1321Phosphoserine3 Publications
Modified residuei146 – 1461Phosphoserine2 Publications
Modified residuei152 – 1521Phosphoserine1 Publication
Modified residuei211 – 2111Phosphoserine1 Publication
Modified residuei214 – 2141Phosphoserine1 Publication
Modified residuei239 – 2391Phosphoserine2 Publications
Modified residuei242 – 2421Phosphoserine2 Publications
Modified residuei302 – 3021Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9H4L7.
PaxDbiQ9H4L7.
PRIDEiQ9H4L7.

PTM databases

PhosphoSiteiQ9H4L7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9H4L7.
CleanExiHS_SMARCAD1.
ExpressionAtlasiQ9H4L7. baseline and differential.
GenevestigatoriQ9H4L7.

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. 122 interactions.
IntActiQ9H4L7. 2 interactions.
STRINGi9606.ENSP00000351947.

Structurei

3D structure databases

ProteinModelPortaliQ9H4L7.
SMRiQ9H4L7. Positions 497-1006.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini157 – 19943CUE 1PROSITE-ProRule annotationAdd
BLAST
Domaini251 – 29444CUE 2PROSITE-ProRule annotationAdd
BLAST
Domaini509 – 677169Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini858 – 1010153Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi628 – 6314DEGH box
Motifi721 – 73818Nuclear localization signalSequence AnalysisAdd
BLAST
Motifi1005 – 10084DEGD box

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 2 CUE domains.PROSITE-ProRule annotation
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG0553.
GeneTreeiENSGT00630000089890.
HOGENOMiHOG000172362.
HOVERGENiHBG055804.
InParanoidiQ9H4L7.
KOiK14439.
OMAiKNQRGIQ.
OrthoDBiEOG7QNVKC.
PhylomeDBiQ9H4L7.
TreeFamiTF105768.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003892. CUE.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51140. CUE. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

The sequence AAH17953.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA86436.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB14759.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti215 – 2151E → D in AAH17953. (PubMed:15489334)Curated
Sequence conflicti937 – 9371N → D in BAB14759. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661S → F.
Corresponds to variant rs11723410 [ dbSNP | Ensembl ].
VAR_028037
Natural varianti135 – 1351L → F.
Corresponds to variant rs2664891 [ dbSNP | Ensembl ].
VAR_028038
Natural varianti140 – 1401R → C.
Corresponds to variant rs2632398 [ dbSNP | Ensembl ].
VAR_028039
Natural varianti245 – 2451S → Y.
Corresponds to variant rs3103117 [ dbSNP | Ensembl ].
VAR_028040
Natural varianti247 – 2471S → N.2 Publications
Corresponds to variant rs11722476 [ dbSNP | Ensembl ].
VAR_028041
Natural varianti301 – 3011V → A.4 Publications
Corresponds to variant rs7439869 [ dbSNP | Ensembl ].
VAR_028042
Natural varianti351 – 3511P → Q.1 Publication
Corresponds to variant rs17854344 [ dbSNP | Ensembl ].
VAR_028043
Natural varianti972 – 9721V → A.1 Publication
Corresponds to variant rs17857297 [ dbSNP | Ensembl ].
VAR_028044

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 430430Missing in isoform 3. 1 PublicationVSP_043110Add
BLAST
Alternative sequencei765 – 7651L → LVT in isoform 2. 3 PublicationsVSP_007104

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]
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.4. human. [Q9H4L7-2]
uc003htc.4. human. [Q9H4L7-1]

Polymorphism databases

DMDMi306526240.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

The ends of our fingers - Issue 136 of March 2012

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 .
CCDSi CCDS3639.1. [Q9H4L7-1 ]
CCDS47101.1. [Q9H4L7-2 ]
CCDS58914.1. [Q9H4L7-3 ]
RefSeqi NP_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 ]
UniGenei Hs.410406.

3D structure databases

ProteinModelPortali Q9H4L7.
SMRi Q9H4L7. Positions 497-1006.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121244. 122 interactions.
IntActi Q9H4L7. 2 interactions.
STRINGi 9606.ENSP00000351947.

PTM databases

PhosphoSitei Q9H4L7.

Polymorphism databases

DMDMi 306526240.

Proteomic databases

MaxQBi Q9H4L7.
PaxDbi Q9H4L7.
PRIDEi Q9H4L7.

Protocols and materials databases

DNASUi 56916.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000354268 ; ENSP00000346217 ; ENSG00000163104 . [Q9H4L7-1 ]
ENST00000359052 ; ENSP00000351947 ; ENSG00000163104 . [Q9H4L7-2 ]
ENST00000457823 ; ENSP00000415576 ; ENSG00000163104 . [Q9H4L7-2 ]
ENST00000509418 ; ENSP00000423286 ; ENSG00000163104 . [Q9H4L7-3 ]
GeneIDi 56916.
KEGGi hsa:56916.
UCSCi uc003htb.4. human. [Q9H4L7-2 ]
uc003htc.4. human. [Q9H4L7-1 ]

Organism-specific databases

CTDi 56916.
GeneCardsi GC04P095128.
H-InvDB HIX0004380.
HGNCi HGNC:18398. SMARCAD1.
HPAi HPA016737.
MIMi 136000. phenotype.
612761. gene.
neXtProti NX_Q9H4L7.
Orphaneti 289465. Isolated adermatoglyphia.
PharmGKBi PA134954731.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0553.
GeneTreei ENSGT00630000089890.
HOGENOMi HOG000172362.
HOVERGENi HBG055804.
InParanoidi Q9H4L7.
KOi K14439.
OMAi KNQRGIQ.
OrthoDBi EOG7QNVKC.
PhylomeDBi Q9H4L7.
TreeFami TF105768.

Miscellaneous databases

ChiTaRSi SMARCAD1. human.
GeneWikii SMARCAD1.
GenomeRNAii 56916.
NextBioi 62407.
PROi Q9H4L7.
SOURCEi Search...

Gene expression databases

Bgeei Q9H4L7.
CleanExi HS_SMARCAD1.
ExpressionAtlasi Q9H4L7. baseline and differential.
Genevestigatori Q9H4L7.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003892. CUE.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view ]
Pfami PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view ]
SMARTi SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS51140. CUE. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases."
    Adra C.N., Donato J.-L., Badovinac R., Syed F., Kheraj R., Cai H., Moran C., Kolker M.T., Turner H., Weremowicz S., Shirakawa T., Morton C.C., Schnipper L.E., Drews R.
    Genomics 69:162-173(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ALA-301.
    Tissue: Fetal brain.
  2. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
    Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
    DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-702 (ISOFORMS 1/2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 649-1026 (ISOFORM 2).
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ASN-247; ALA-301; GLN-351 AND ALA-972.
    Tissue: Kidney and Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 433-1026 (ISOFORM 1).
    Tissue: Melanoma and Testis.
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-124; SER-127; SER-239 AND SER-242, VARIANT [LARGE SCALE ANALYSIS] ASN-247, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-124; SER-127; SER-132 AND SER-302, VARIANT [LARGE SCALE ANALYSIS] ALA-301, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  9. "The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS."
    Okazaki N., Ikeda S., Ohara R., Shimada K., Yanagawa T., Nagase T., Ohara O., Koga H.
    J. Mol. Biol. 382:257-265(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: DNA-BINDING, INTERACTION WITH MSH2 AND TRIM28.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-79; SER-124; SER-127; SER-132; SER-211 AND SER-214, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-54; SER-124; SER-127; SER-132 AND SER-146, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-124 AND SER-127, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia."
    Nousbeck J., Burger B., Fuchs-Telem D., Pavlovsky M., Fenig S., Sarig O., Itin P., Sprecher E.
    Am. J. Hum. Genet. 89:302-307(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ADERM, TISSUE SPECIFICITY, ALTERNATIVE SPLICING (ISOFORM 3).
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Maintenance of silent chromatin through replication requires SWI/SNF-like chromatin remodeler SMARCAD1."
    Rowbotham S.P., Barki L., Neves-Costa A., Santos F., Dean W., Hawkes N., Choudhary P., Will W.R., Webster J., Oxley D., Green C.M., Varga-Weisz P., Mermoud J.E.
    Mol. Cell 42:285-296(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PCNA; TRIM28; HDAC1; HDAC2; EHMT2; PARP1 AND CBX3, MUTAGENESIS OF LYS-528.
  16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-54; SER-57; SER-124; SER-127; SER-146; SER-152; SER-239 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. Cited for: FUNCTION, SUBCELLULAR LOCATION.
  19. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-301, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSMRCD_HUMAN
AccessioniPrimary (citable) accession number: Q9H4L7
Secondary accession number(s): B7Z799
, Q05D56, Q96SX1, Q9H017, Q9H860, Q9NPU9, Q9ULU7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: October 5, 2010
Last modified: October 29, 2014
This is version 131 of the entry and version 2 of the sequence. [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

External Data

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