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Q9NZC9

- SMAL1_HUMAN

UniProt

Q9NZC9 - SMAL1_HUMAN

Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Gene

SMARCAL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks.3 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi458 – 4658ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. annealing helicase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB-KW
    3. DNA binding Source: InterPro
    4. DNA-dependent ATPase activity Source: UniProtKB
    5. helicase activity Source: UniProtKB-KW
    6. protein binding Source: UniProtKB

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. cellular response to DNA damage stimulus Source: UniProtKB
    3. chromatin modification Source: InterPro
    4. DNA metabolic process Source: UniProtKB
    5. DNA strand renaturation Source: GOC
    6. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    7. replication fork processing Source: UniProtKB

    Keywords - Molecular functioni

    Helicase, Hydrolase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (EC:3.6.4.-)
    Alternative name(s):
    HepA-related protein
    Short name:
    hHARP
    Sucrose nonfermenting protein 2-like 1
    Gene namesi
    Name:SMARCAL1
    Synonyms:HARP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:11102. SMARCAL1.

    Subcellular locationi

    Nucleus 2 Publications
    Note: Recruited to damaged DNA regions.

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. site of double-strand break Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]: Causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischemia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti468 – 4681A → P in SIOD. 1 Publication
    VAR_021370
    Natural varianti548 – 5481I → N in SIOD. 1 Publication
    VAR_021371
    Natural varianti579 – 5791S → L in SIOD. 1 Publication
    VAR_021372
    Natural varianti586 – 5861R → W in SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 1 Publication
    VAR_021373
    Natural varianti644 – 6441R → W in SIOD. 1 Publication
    VAR_021374
    Natural varianti645 – 6451R → C in SIOD. 1 Publication
    VAR_021375
    Natural varianti647 – 6471K → Q in SIOD. 1 Publication
    VAR_021376
    Natural varianti647 – 6471K → T in SIOD. 1 Publication
    VAR_021377
    Natural varianti705 – 7051T → I in SIOD. 1 Publication
    VAR_021379
    Natural varianti764 – 7641R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 1 Publication
    VAR_021381
    Natural varianti820 – 8201R → H in SIOD. 1 Publication
    VAR_021382

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi17 – 193RQK → AAA: Loss of interaction with RPA2 and impaired recruitment by the RPA complex to sites of DNA damage. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi242900. phenotype.
    Orphaneti1830. Schimke immuno-osseous dysplasia.
    PharmGKBiPA35952.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 954953SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1PRO_0000074348Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication
    Modified residuei151 – 1511Phosphoserine2 Publications

    Post-translational modificationi

    DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC.2 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NZC9.
    PaxDbiQ9NZC9.
    PRIDEiQ9NZC9.

    PTM databases

    PhosphoSiteiQ9NZC9.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed, with high levels in testis.2 Publications

    Gene expression databases

    ArrayExpressiQ9NZC9.
    BgeeiQ9NZC9.
    CleanExiHS_SMARCAL1.
    GenevestigatoriQ9NZC9.

    Organism-specific databases

    HPAiHPA020337.

    Interactioni

    Subunit structurei

    Interacts with RPA2; the interaction is direct and mediates the recruitment by the RPA complex of SMARCAL1 to sites of DNA damage.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RPA2P1592712EBI-5457961,EBI-621404

    Protein-protein interaction databases

    BioGridi119072. 6 interactions.
    IntActiQ9NZC9. 3 interactions.
    MINTiMINT-8415341.
    STRINGi9606.ENSP00000349823.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZC9.
    SMRiQ9NZC9. Positions 409-840.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini226 – 30378HARP 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini327 – 39872HARP 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini445 – 600156Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini716 – 869154Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 3029Mediates interaction with RPA2Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili3 – 3432Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi549 – 5524DESH box

    Sequence similaritiesi

    Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.PROSITE-ProRule annotation
    Contains 2 HARP domains.PROSITE-ProRule annotation
    Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
    Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiCOG0553.
    HOVERGENiHBG054110.
    InParanoidiQ9NZC9.
    KOiK14440.
    OMAiSIHYLVA.
    OrthoDBiEOG7XSTD5.
    PhylomeDBiQ9NZC9.
    TreeFamiTF106474.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR010003. HARP_dom.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR000330. SNF2_N.
    [Graphical view]
    PfamiPF07443. HARP. 2 hits.
    PF00271. Helicase_C. 1 hit.
    PF00176. SNF2_N. 1 hit.
    [Graphical view]
    SMARTiSM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 3 hits.
    PROSITEiPS51467. HARP. 2 hits.
    PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9NZC9-1 [UniParc]FASTAAdd to Basket

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    MSLPLTEEQR KKIEENRQKA LARRAEKLLA EQHQRTSSGT SIAGNPFQAK    50
    QGPSQNFPRE SCKPVSHGVI FKQQNLSSSS NADQRPHDSH SFQAKGIWKK 100
    PEEMPTACPG HSPRSQMALT GISPPLAQSP PEVPKQQLLS YELGQGHAQA 150
    SPEIRFTPFA NPTHKPLAKP KSSQETPAHS SGQPPRDAKL EAKTAKASPS 200
    GQNISYIHSS SESVTPRTEG RLQQKSGSSV QKGVNSQKGK CVRNGDRFQV 250
    LIGYNAELIA VFKTLPSKNY DPDTKTWNFS MNDYSALMKA AQSLPTVNLQ 300
    PLEWAYGSSE SPSTSSEGQA GLPSAPSLSF VKGRCMLISR AYFEADISYS 350
    QDLIALFKQM DSRRYDVKTR KWSFLLEEHS KLIAKVRCLP QVQLDPLPTT 400
    LTLAFASQLK KTSLSLTPDV PEADLSEVDP KLVSNLMPFQ RAGVNFAIAK 450
    GGRLLLADDM GLGKTIQAIC IAAFYRKEWP LLVVVPSSVR FTWEQAFLRW 500
    LPSLSPDCIN VVVTGKDRLT AGLINIVSFD LLSKLEKQLK TPFKVVIIDE 550
    SHFLKNSRTA RCRAAMPVLK VAKRVILLSG TPAMSRPAEL YTQIIAVKPT 600
    FFPQFHAFGL RYCDAKRMPW GWDYSGSSNL GELKLLLEEA VMLRRLKSDV 650
    LSQLPAKQRK IVVIAPGRIN ARTRAALDAA AKEMTTKDKT KQQQKDALIL 700
    FFNRTAEAKI PSVIEYILDL LESGREKFLV FAHHKVVLDA ITQELERKHV 750
    QHIRIDGSTS SAEREDLCQQ FQLSERHAVA VLSITAANMG LTFSSADLVV 800
    FAELFWNPGV LIQAEDRVHR IGQTSSVGIH YLVAKGTADD YLWPLIQEKI 850
    KVLAEAGLSE TNFSEMTEST DYLYKDPKQQ KIYDLFQKSF EKEGSDMELL 900
    EAAESFDPGS ASGTSGSSSQ NMGDTLDESS LTASPQKKRR FEFFDNWDSF 950
    TSPL 954
    Length:954
    Mass (Da):105,938
    Last modified:October 1, 2000 - v1
    Checksum:iC5C762C24A2FDD3A
    GO

    Sequence cautioni

    The sequence BAA90955.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti118 – 1181A → T in AAF24984. (PubMed:10857751)Curated
    Sequence conflicti335 – 3351C → G in AAF24984. (PubMed:10857751)Curated
    Sequence conflicti344 – 3441E → K in BAA90955. (PubMed:14702039)Curated
    Sequence conflicti882 – 8821I → M in AAF24984. (PubMed:10857751)Curated
    Sequence conflicti900 – 9001L → V in AAF24984. (PubMed:10857751)Curated
    Sequence conflicti911 – 9111A → G in AAF24984. (PubMed:10857751)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221A → G.1 Publication
    Corresponds to variant rs17851400 [ dbSNP | Ensembl ].
    VAR_038370
    Natural varianti43 – 431A → T.
    Corresponds to variant rs2066524 [ dbSNP | Ensembl ].
    VAR_021363
    Natural varianti114 – 1141R → H.
    Corresponds to variant rs11555797 [ dbSNP | Ensembl ].
    VAR_021364
    Natural varianti206 – 2061Y → D.
    Corresponds to variant rs5014982 [ dbSNP | Ensembl ].
    VAR_021365
    Natural varianti207 – 2071I → F.
    Corresponds to variant rs6734114 [ dbSNP | Ensembl ].
    VAR_021366
    Natural varianti315 – 3151S → R.
    Corresponds to variant rs2066522 [ dbSNP | Ensembl ].
    VAR_021367
    Natural varianti377 – 3771E → Q.2 Publications
    Corresponds to variant rs2066518 [ dbSNP | Ensembl ].
    VAR_021368
    Natural varianti424 – 4241D → V.
    Corresponds to variant rs2066520 [ dbSNP | Ensembl ].
    VAR_021369
    Natural varianti432 – 4321L → V in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036026
    Natural varianti468 – 4681A → P in SIOD. 1 Publication
    VAR_021370
    Natural varianti548 – 5481I → N in SIOD. 1 Publication
    VAR_021371
    Natural varianti579 – 5791S → L in SIOD. 1 Publication
    VAR_021372
    Natural varianti586 – 5861R → W in SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 1 Publication
    VAR_021373
    Natural varianti644 – 6441R → W in SIOD. 1 Publication
    VAR_021374
    Natural varianti645 – 6451R → C in SIOD. 1 Publication
    VAR_021375
    Natural varianti647 – 6471K → Q in SIOD. 1 Publication
    VAR_021376
    Natural varianti647 – 6471K → T in SIOD. 1 Publication
    VAR_021377
    Natural varianti649 – 6491D → N.
    Corresponds to variant rs2066523 [ dbSNP | Ensembl ].
    VAR_021378
    Natural varianti705 – 7051T → I in SIOD. 1 Publication
    VAR_021379
    Natural varianti742 – 7421T → M.
    Corresponds to variant rs2271336 [ dbSNP | Ensembl ].
    VAR_021380
    Natural varianti764 – 7641R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 1 Publication
    VAR_021381
    Natural varianti820 – 8201R → H in SIOD. 1 Publication
    VAR_021382

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF082179 mRNA. Translation: AAF24984.1.
    AF210842
    , AF210833, AF210834, AF210835, AF210836, AF210837, AF210838, AF210839, AF210840, AF210841 Genomic DNA. Translation: AAF70454.1.
    AF432223 mRNA. Translation: AAL73034.1.
    AC098820 Genomic DNA. Translation: AAX93097.1.
    CH471063 Genomic DNA. Translation: EAW70567.1.
    BC016482 mRNA. Translation: AAH16482.1.
    BC043341 mRNA. Translation: AAH43341.1.
    AL122076 mRNA. Translation: CAB59251.1.
    AK000117 mRNA. Translation: BAA90955.1. Different initiation.
    CCDSiCCDS2403.1.
    PIRiT34557.
    RefSeqiNP_001120679.1. NM_001127207.1.
    NP_054859.2. NM_014140.3.
    XP_005246688.1. XM_005246631.2.
    XP_005246689.1. XM_005246632.1.
    UniGeneiHs.516674.

    Genome annotation databases

    EnsembliENST00000357276; ENSP00000349823; ENSG00000138375.
    ENST00000358207; ENSP00000350940; ENSG00000138375.
    GeneIDi50485.
    KEGGihsa:50485.
    UCSCiuc002vgc.4. human.

    Polymorphism databases

    DMDMi60390962.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    SMARCAL1base

    SMARCAL1 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF082179 mRNA. Translation: AAF24984.1 .
    AF210842
    , AF210833 , AF210834 , AF210835 , AF210836 , AF210837 , AF210838 , AF210839 , AF210840 , AF210841 Genomic DNA. Translation: AAF70454.1 .
    AF432223 mRNA. Translation: AAL73034.1 .
    AC098820 Genomic DNA. Translation: AAX93097.1 .
    CH471063 Genomic DNA. Translation: EAW70567.1 .
    BC016482 mRNA. Translation: AAH16482.1 .
    BC043341 mRNA. Translation: AAH43341.1 .
    AL122076 mRNA. Translation: CAB59251.1 .
    AK000117 mRNA. Translation: BAA90955.1 . Different initiation.
    CCDSi CCDS2403.1.
    PIRi T34557.
    RefSeqi NP_001120679.1. NM_001127207.1.
    NP_054859.2. NM_014140.3.
    XP_005246688.1. XM_005246631.2.
    XP_005246689.1. XM_005246632.1.
    UniGenei Hs.516674.

    3D structure databases

    ProteinModelPortali Q9NZC9.
    SMRi Q9NZC9. Positions 409-840.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119072. 6 interactions.
    IntActi Q9NZC9. 3 interactions.
    MINTi MINT-8415341.
    STRINGi 9606.ENSP00000349823.

    PTM databases

    PhosphoSitei Q9NZC9.

    Polymorphism databases

    DMDMi 60390962.

    Proteomic databases

    MaxQBi Q9NZC9.
    PaxDbi Q9NZC9.
    PRIDEi Q9NZC9.

    Protocols and materials databases

    DNASUi 50485.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357276 ; ENSP00000349823 ; ENSG00000138375 .
    ENST00000358207 ; ENSP00000350940 ; ENSG00000138375 .
    GeneIDi 50485.
    KEGGi hsa:50485.
    UCSCi uc002vgc.4. human.

    Organism-specific databases

    CTDi 50485.
    GeneCardsi GC02P217277.
    GeneReviewsi SMARCAL1.
    HGNCi HGNC:11102. SMARCAL1.
    HPAi HPA020337.
    MIMi 242900. phenotype.
    606622. gene.
    neXtProti NX_Q9NZC9.
    Orphaneti 1830. Schimke immuno-osseous dysplasia.
    PharmGKBi PA35952.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0553.
    HOVERGENi HBG054110.
    InParanoidi Q9NZC9.
    KOi K14440.
    OMAi SIHYLVA.
    OrthoDBi EOG7XSTD5.
    PhylomeDBi Q9NZC9.
    TreeFami TF106474.

    Miscellaneous databases

    GeneWikii SMARCAL1.
    GenomeRNAii 50485.
    NextBioi 53040.
    PROi Q9NZC9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NZC9.
    Bgeei Q9NZC9.
    CleanExi HS_SMARCAL1.
    Genevestigatori Q9NZC9.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR010003. HARP_dom.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR000330. SNF2_N.
    [Graphical view ]
    Pfami PF07443. HARP. 2 hits.
    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. 3 hits.
    PROSITEi PS51467. HARP. 2 hits.
    PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse."
      Coleman M.A., Eisen J.A., Mohrenweiser H.W.
      Genomics 65:274-282(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS SIOD PRO-468; ASN-548; LEU-579; TRP-586; TRP-644; CYS-645; GLN-647; THR-647; ILE-705; GLN-764 AND HIS-820.
    3. "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].
    4. 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], VARIANTS GLY-22 AND GLN-377.
      Tissue: Lung and Lymph.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 147-954.
      Tissue: Testis.
    7. "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] OF 335-954, VARIANT GLN-377.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA."
      Yusufzai T., Kong X., Yokomori K., Kadonaga J.T.
      Genes Dev. 23:2400-2404(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RPA2 AND THE RPA COMPLEX, REGION, SUBCELLULAR LOCATION.
    10. "The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks."
      Bansbach C.E., Betous R., Lovejoy C.A., Glick G.G., Cortez D.
      Genes Dev. 23:2405-2414(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN DNA DAMAGE RESPONSE, INTERACTION WITH RPA2, PHOSPHORYLATION.
    11. "The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart."
      Ciccia A., Bredemeyer A.L., Sowa M.E., Terret M.E., Jallepalli P.V., Harper J.W., Elledge S.J.
      Genes Dev. 23:2415-2425(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN DNA REPLICATION, INTERACTION WITH RPA2 AND THE RPA COMPLEX, REGION, SUBCELLULAR LOCATION, MUTAGENESIS OF 17-ARG--LYS-19, CHARACTERIZATION OF VARIANTS SIOD TRP-586 AND GLN-764.
    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-151, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    15. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-432.
    16. "HARP is an ATP-driven annealing helicase."
      Yusufzai T., Kadonaga J.T.
      Science 322:748-750(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS SIOD TRP-586 AND GLN-764, FUNCTION, DNA-BINDING.

    Entry informationi

    Entry nameiSMAL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZC9
    Secondary accession number(s): A6NEH0
    , Q53R00, Q96AY1, Q9NXQ5, Q9UFH3, Q9UI93
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2005
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 117 of the entry and version 1 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 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3