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Q9H4L7

- SMRCD_HUMAN

UniProt

Q9H4L7 - SMRCD_HUMAN

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
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (05 Oct 2010)
      Previous versions | rss
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    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
    5. protein 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

    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

    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

    ArrayExpressiQ9H4L7.
    BgeeiQ9H4L7.
    CleanExiHS_SMARCAD1.
    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. 120 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.
    HOGENOMiHOG000172362.
    HOVERGENiHBG055804.
    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

    MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS     50
    RANTPDSDIT EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED 100
    VVSPNCSNTV QEKTFNKDTV IIVSEPSEDE ESQGLPTMAR RNDDISELED 150
    LSELEDLKDA KLQTLKELFP QRSDNDLLKL IESTSTMDGA IAAALLMFGD 200
    AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN ESAESSSNWE 250
    KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY 300
    VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN 350
    PKRVVEDSEY DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE 400
    LTLIPQCSQK KAQKITELRP FNSWEALFTK MSKTNGLSED LIWHCKTLIQ 450
    ERDVVIRLMN KCEDISNKLT KQVTMLTGNG GGWNIEQPSI LNQSLSLKPY 500
    QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY QEGNNGPHLI 550
    VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI 600
    VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN 650
    NRLLLTGTPV QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ 700
    SIYEKERIAH AKQIIKPFIL RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL 750
    YLGLFNRLKK SINNLEKNTE MCNVMMQLRK MANHPLLHRQ YYTAEKLKEM 800
    SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI NNFQLDMDLI 850
    LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL 900
    DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID 950
    CNPYNDKQAE DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD 1000
    MTTVDEGDEG SMPADIATLL KTSMGL 1026
    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.
    The sequence BAA86436.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB14759.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 120 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.
    HOGENOMi HOG000172362.
    HOVERGENi HBG055804.
    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

    ArrayExpressi Q9H4L7.
    Bgeei Q9H4L7.
    CleanExi HS_SMARCAD1.
    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

    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 1, 2014
    This is version 130 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

    Dasty 3