Homo sapiens L. (human) [HSA]

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


DESCRIPTION:
ATP-dependent annealing helicase that 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.

STRUCTURE SIMILARITY:
Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.
Contains 1 helicase C-terminal domain.
Contains 1 helicase ATP-binding domain.
Contains 2 HARP domains.


RELATED PATHWAY(S):
chromatin remodeling


RELATED DISEASE(S):
Schimke immuno-osseous dysplasia (SIOD)


Amino acids sequence

        10         20         30         40         50         60
MSLPLTEEQR KKIEENRQKA LARRAEKLLA EQHQRTSSGT SIAGNPFQAK QGPSQNFPRE
        70         80         90        100        110        120
SCKPVSHGVI FKQQNLSSSS NADQRPHDSH SFQAKGIWKK PEEMPTACPG HSPRSQMALT
       130        140        150        160        170        180
GISPPLAQSP PEVPKQQLLS YELGQGHAQA SPEIRFTPFA NPTHKPLAKP KSSQETPAHS
       190        200        210        220        230        240
SGQPPRDAKL EAKTAKASPS GQNISYIHSS SESVTPRTEG RLQQKSGSSV QKGVNSQKGK
       250        260        270        280        290        300
CVRNGDRFQV LIGYNAELIA VFKTLPSKNY DPDTKTWNFS MNDYSALMKA AQSLPTVNLQ
       310        320        330        340        350        360
PLEWAYGSSE SPSTSSEGQA GLPSAPSLSF VKGRCMLISR AYFEADISYS QDLIALFKQM
       370        380        390        400        410        420
DSRRYDVKTR KWSFLLEEHS KLIAKVRCLP QVQLDPLPTT LTLAFASQLK KTSLSLTPDV
       430        440        450        460        470        480
PEADLSEVDP KLVSNLMPFQ RAGVNFAIAK GGRLLLADDM GLGKTIQAIC IAAFYRKEWP
       490        500        510        520        530        540
LLVVVPSSVR FTWEQAFLRW LPSLSPDCIN VVVTGKDRLT AGLINIVSFD LLSKLEKQLK
       550        560        570        580        590        600
TPFKVVIIDE SHFLKNSRTA RCRAAMPVLK VAKRVILLSG TPAMSRPAEL YTQIIAVKPT
       610        620        630        640        650        660
FFPQFHAFGL RYCDAKRMPW GWDYSGSSNL GELKLLLEEA VMLRRLKSDV LSQLPAKQRK
       670        680        690        700        710        720
IVVIAPGRIN ARTRAALDAA AKEMTTKDKT KQQQKDALIL FFNRTAEAKI PSVIEYILDL
       730        740        750        760        770        780
LESGREKFLV FAHHKVVLDA ITQELERKHV QHIRIDGSTS SAEREDLCQQ FQLSERHAVA
       790        800        810        820        830        840
VLSITAANMG LTFSSADLVV FAELFWNPGV LIQAEDRVHR IGQTSSVGIH YLVAKGTADD
       850        860        870        880        890        900
YLWPLIQEKI KVLAEAGLSE TNFSEMTEST DYLYKDPKQQ KIYDLFQKSF EKEGSDMELL
       910        920        930        940        950
EAAESFDPGS ASGTSGSSSQ NMGDTLDESS LTASPQKKRR FEFFDNWDSF TSPL

Encoded by SMARCAL1 gene

FULL NAME: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1


OTHER NAME(S):
HARP
HHARP


DESCRIPTION:
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgtccttgc ctcttacaga ggagcagagg aaaaagattg aagagaatcg acaaaaggct
        70         80         90        100        110        120
ctggcccgca gagctgagaa gttattggca gaacagcatc agaggactag ctcgggcacc
       130        140        150        160        170        180
tccattgctg gcaacccatt ccaggccaag caaggcccat cccaaaattt cccaagggag
       190        200        210        220        230        240
tcttgtaagc cagtgagcca tggtgtcatt ttcaagcaac agaatctcag tagctcatct
       250        260        270        280        290        300
aatgctgacc aaagacctca tgattcccac agttttcagg caaagggaat atggaaaaag
       310        320        330        340        350        360
ccagaagaaa tgcccacagc ctgcccaggc cacagtccac gtagtcaaat ggctctcact
       370        380        390        400        410        420
ggaatctctc ctcccttggc acaaagtcct ccagaggtcc ctaaacaaca gctcttgagt
       430        440        450        460        470        480
tatgagttag gtcaaggtca tgctcaggct tcacctgaga tcaggttcac accctttgct
       490        500        510        520        530        540
aacccaactc ataagcctct ggccaaacca aagagttccc aagagacacc agctcattcc
       550        560        570        580        590        600
tctggacagc ctcccaggga tgctaagtta gaggccaaga cagcaaaagc ctccccttcg
       610        620        630        640        650        660
gggcagaaca tttcttacat ccattctagc tcagagagtg taacgcccag gacagaagga
       670        680        690        700        710        720
agactccagc agaagtcagg gtcctcagtc caaaaaggag tgaactctca gaagggaaag
       730        740        750        760        770        780
tgcgtaagga acggcgatcg tttccaggtg ttgattgggt acaatgcgga actcattgca
       790        800        810        820        830        840
gtgtttaaga ccctgcccag caagaattat gatcctgaca ccaagacgtg gaacttcagc
       850        860        870        880        890        900
atgaatgact atagtgccct gatgaaagca gcccagagcc tccccacggt caacctgcag
       910        920        930        940        950        960
cctctggaat gggcctatgg cagcagcgag tcaccctcca ccagcagtga gggacaggcc
       970        980        990       1000       1010       1020
ggccttccat cagctccatc cctttcattt gtcaaagggc gatgcatgct catctccagg
      1030       1040       1050       1060       1070       1080
gcctacttcg aggcagacat cagttattca caggacctta ttgcgctttt taaacagatg
      1090       1100       1110       1120       1130       1140
gattccagaa gatatgatgt caagaccagg aagtggagct ttctcttgga agagcacagt
      1150       1160       1170       1180       1190       1200
aaactaattg caaaggtgcg ctgcctccca caagttcagc tggaccctct gcccacgact
      1210       1220       1230       1240       1250       1260
ctcaccctgg cgtttgcttc tcagctcaag aagacatctc tcagtctcac gccagatgtc
      1270       1280       1290       1300       1310       1320
ccagaggcag acctttctga agtggacccc aagctcgtgt ctaatctgat gccctttcag
      1330       1340       1350       1360       1370       1380
agagctggag tcaattttgc catagccaaa ggaggccgcc tgctgctcgc tgacgacatg
      1390       1400       1410       1420       1430       1440
ggcctgggga agaccatcca agccatctgc atcgcagcct tttaccggaa ggagtggccg
      1450       1460       1470       1480       1490       1500
ctcctggtgg tggtgccatc ctccgtgcgc ttcacctggg agcaggcctt ccttcggtgg
      1510       1520       1530       1540       1550       1560
ctgccatctc tgagcccaga ttgcatcaac gtcgtggtga ctgggaagga ccgcctgaca
      1570       1580       1590       1600       1610       1620
gctggcctga tcaacattgt cagctttgac cttcttagca agttggaaaa acagctaaaa
      1630       1640       1650       1660       1670       1680
acccctttta aagttgtcat cattgatgaa tctcacttcc tcaaaaacag taggactgcc
      1690       1700       1710       1720       1730       1740
cgctgtcgag cagctatgcc ggtcctaaag gttgccaaga gggtgatcct gttgtcgggc
      1750       1760       1770       1780       1790       1800
acaccagcca tgtcccggcc cgcagagctc tacacgcaga tcatcgcagt caagccaact
      1810       1820       1830       1840       1850       1860
ttcttccccc agtttcatgc ctttggactt cgctactgtg atgccaaacg gatgccttgg
      1870       1880       1890       1900       1910       1920
gggtgggact actcaggttc ctccaacctg ggagagctga agctcctgct ggaggaagca
      1930       1940       1950       1960       1970       1980
gtcatgctgc ggcgcctcaa gtccgacgtc ctttcccagc tgcctgccaa gcagcgcaag
      1990       2000       2010       2020       2030       2040
atagtggtga ttgccccagg acggatcaat gccaggacca gagctgccct ggatgctgca
      2050       2060       2070       2080       2090       2100
gccaaggaaa tgaccaccaa ggacaaaact aaacagcagc agaaagatgc cctcattctc
      2110       2120       2130       2140       2150       2160
ttcttcaaca gaacagctga agctaaaatc ccatctgtca ttgaatatat cttggaccta
      2170       2180       2190       2200       2210       2220
ctggaaagtg gaagagagaa gtttttagta tttgcacacc ataaggtggt cctggacgca
      2230       2240       2250       2260       2270       2280
attacgcaag agcttgagag aaagcacgtg cagcacatcc gcatcgatgg ctccacctca
      2290       2300       2310       2320       2330       2340
tcagctgagc gggaggacct gtgccagcag ttccaactgt cggagaggca tgctgtggcc
      2350       2360       2370       2380       2390       2400
gtgctgtcca tcaccgctgc caatatgggc ctcaccttct cctcggctga cctggtggtg
      2410       2420       2430       2440       2450       2460
tttgctgagc tgttttggaa cccaggggtg ctgatccagg ctgaggaccg cgtgcaccgc
      2470       2480       2490       2500       2510       2520
attggacaga ccagctccgt gggcattcac tacctcgtgg caaagggcac agctgatgac
      2530       2540       2550       2560       2570       2580
tacctttggc ccctgattca agagaagatt aaagttctgg cagaagccgg gctttctgag
      2590       2600       2610       2620       2630       2640
accaattttt cagaaatgac agaatccact gattacctct acaaggaccc aaagcagcag
      2650       2660       2670       2680       2690       2700
aagatctacg acctattcca gaagtccttt gagaaagaag gaagtgatat ggagctcctg
      2710       2720       2730       2740       2750       2760
gaagcagcag agtcctttga cccaggaagt gcttcaggaa catctggaag tagttcccag
      2770       2780       2790       2800       2810       2820
aacatgggag acaccctgga tgaaagctca ttgacagcca gtccacagaa gaaaaggaga
      2830       2840       2850       2860
tttgaatttt ttgataactg ggacagcttt acgtctcccc tgtaa 

Last modification date: Oct. 2, 2011