UniProtKB - Q9NZC9 (SMAL1_HUMAN)
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
SMARCAL1
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 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 458 – 465 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP-dependent activity, acting on DNA Source: Ensembl
- ATP-dependent DNA/DNA annealing activity Source: UniProtKB
- helicase activity Source: UniProtKB-KW
- hydrolase activity Source: UniProtKB-KW
GO - Biological processi
- cellular response to DNA damage stimulus Source: UniProtKB
- DNA repair Source: GO_Central
- double-strand break repair via nonhomologous end joining Source: CACAO
- regulation of transcription by RNA polymerase II Source: UniProtKB
- replication fork processing Source: UniProtKB
- replication fork protection Source: GO_Central
- t-circle formation Source: BHF-UCL
Keywordsi
Molecular function | Helicase, Hydrolase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9NZC9 |
SignaLinki | Q9NZC9 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11102, SMARCAL1 |
MIMi | 606622, gene |
neXtProti | NX_Q9NZC9 |
VEuPathDBi | HostDB:ENSG00000138375 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Note: Recruited to damaged DNA regions.
Nucleus
- nuclear replication fork Source: GO_Central
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- site of double-strand break Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Schimke immuno-osseous dysplasia (SIOD)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021370 | 468 | A → P in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021371 | 548 | I → N in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473036EnsemblClinVar. | 1 | |
Natural variantiVAR_021372 | 579 | S → L in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021373 | 586 | R → 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. 3 PublicationsCorresponds to variant dbSNP:rs119473038EnsemblClinVar. | 1 | |
Natural variantiVAR_021374 | 644 | R → W in SIOD. 1 PublicationCorresponds to variant dbSNP:rs1313658611EnsemblClinVar. | 1 | |
Natural variantiVAR_021375 | 645 | R → C in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473037EnsemblClinVar. | 1 | |
Natural variantiVAR_021376 | 647 | K → Q in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021377 | 647 | K → T in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021379 | 705 | T → I in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200644381EnsemblClinVar. | 1 | |
Natural variantiVAR_021381 | 764 | R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs267607071EnsemblClinVar. | 1 | |
Natural variantiVAR_021382 | 820 | R → H in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200666300EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 17 – 19 | RQK → AAA: Loss of interaction with RPA2 and impaired recruitment by the RPA complex to sites of DNA damage. 1 Publication | 3 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 50485 |
GeneReviewsi | SMARCAL1 |
MalaCardsi | SMARCAL1 |
MIMi | 242900, phenotype |
OpenTargetsi | ENSG00000138375 |
Orphaneti | 1830, Schimke immuno-osseous dysplasia |
PharmGKBi | PA35952 |
Miscellaneous databases
Pharosi | Q9NZC9, Tbio |
Genetic variation databases
BioMutai | SMARCAL1 |
DMDMi | 60390962 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000074348 | 2 – 954 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1Add BLAST | 953 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Modified residuei | 112 | PhosphoserineCombined sources | 1 | |
Modified residuei | 123 | PhosphoserineCombined sources | 1 | |
Modified residuei | 129 | PhosphoserineCombined sources | 1 | |
Modified residuei | 151 | PhosphoserineCombined sources | 1 | |
Modified residuei | 198 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9NZC9 |
jPOSTi | Q9NZC9 |
MassIVEi | Q9NZC9 |
MaxQBi | Q9NZC9 |
PaxDbi | Q9NZC9 |
PeptideAtlasi | Q9NZC9 |
PRIDEi | Q9NZC9 |
ProteomicsDBi | 83371 |
PTM databases
GlyConnecti | 2837, 1 N-Linked glycan (1 site) |
GlyGeni | Q9NZC9, 1 site, 1 N-linked glycan (1 site) |
iPTMneti | Q9NZC9 |
MetOSitei | Q9NZC9 |
PhosphoSitePlusi | Q9NZC9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000138375, Expressed in sural nerve and 122 other tissues |
ExpressionAtlasi | Q9NZC9, baseline and differential |
Genevisiblei | Q9NZC9, HS |
Organism-specific databases
HPAi | ENSG00000138375, Low tissue specificity |
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 PublicationsBinary interactionsi
Q9NZC9
With | #Exp. | IntAct |
---|---|---|
RPA2 [P15927] | 14 | EBI-5457961,EBI-621404 |
Protein-protein interaction databases
BioGRIDi | 119072, 30 interactors |
ELMi | Q9NZC9 |
IntActi | Q9NZC9, 15 interactors |
MINTi | Q9NZC9 |
STRINGi | 9606.ENSP00000349823 |
Miscellaneous databases
RNActi | Q9NZC9, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9NZC9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 226 – 303 | HARP 1PROSITE-ProRule annotationAdd BLAST | 78 | |
Domaini | 327 – 398 | HARP 2PROSITE-ProRule annotationAdd BLAST | 72 | |
Domaini | 445 – 600 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 156 | |
Domaini | 716 – 869 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 154 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 20 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 2 – 30 | Mediates interaction with RPA2Add BLAST | 29 | |
Regioni | 27 – 238 | DisorderedSequence analysisAdd BLAST | 212 | |
Regioni | 904 – 934 | DisorderedSequence analysisAdd BLAST | 31 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 3 – 34 | Sequence analysisAdd BLAST | 32 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 549 – 552 | DESH box | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 32 – 61 | Polar residuesSequence analysisAdd BLAST | 30 | |
Compositional biasi | 68 – 87 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 167 – 181 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 196 – 238 | Polar residuesSequence analysisAdd BLAST | 43 | |
Compositional biasi | 908 – 932 | Polar residuesSequence analysisAdd BLAST | 25 |
Sequence similaritiesi
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG1000, Eukaryota |
GeneTreei | ENSGT00940000157608 |
InParanoidi | Q9NZC9 |
OMAi | NSVGIHY |
OrthoDBi | 1082831at2759 |
PhylomeDBi | Q9NZC9 |
TreeFami | TF106474 |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR030101, HARP(SMARCAL1) IPR010003, HARP_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
PANTHERi | PTHR45766:SF3, PTHR45766:SF3, 2 hits |
Pfami | View protein in Pfam PF07443, HARP, 2 hits PF00271, Helicase_C, 1 hit PF00176, SNF2-rel_dom, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS51467, HARP, 2 hits PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MSLPLTEEQR KKIEENRQKA LARRAEKLLA EQHQRTSSGT SIAGNPFQAK
60 70 80 90 100
QGPSQNFPRE SCKPVSHGVI FKQQNLSSSS NADQRPHDSH SFQAKGIWKK
110 120 130 140 150
PEEMPTACPG HSPRSQMALT GISPPLAQSP PEVPKQQLLS YELGQGHAQA
160 170 180 190 200
SPEIRFTPFA NPTHKPLAKP KSSQETPAHS SGQPPRDAKL EAKTAKASPS
210 220 230 240 250
GQNISYIHSS SESVTPRTEG RLQQKSGSSV QKGVNSQKGK CVRNGDRFQV
260 270 280 290 300
LIGYNAELIA VFKTLPSKNY DPDTKTWNFS MNDYSALMKA AQSLPTVNLQ
310 320 330 340 350
PLEWAYGSSE SPSTSSEGQA GLPSAPSLSF VKGRCMLISR AYFEADISYS
360 370 380 390 400
QDLIALFKQM DSRRYDVKTR KWSFLLEEHS KLIAKVRCLP QVQLDPLPTT
410 420 430 440 450
LTLAFASQLK KTSLSLTPDV PEADLSEVDP KLVSNLMPFQ RAGVNFAIAK
460 470 480 490 500
GGRLLLADDM GLGKTIQAIC IAAFYRKEWP LLVVVPSSVR FTWEQAFLRW
510 520 530 540 550
LPSLSPDCIN VVVTGKDRLT AGLINIVSFD LLSKLEKQLK TPFKVVIIDE
560 570 580 590 600
SHFLKNSRTA RCRAAMPVLK VAKRVILLSG TPAMSRPAEL YTQIIAVKPT
610 620 630 640 650
FFPQFHAFGL RYCDAKRMPW GWDYSGSSNL GELKLLLEEA VMLRRLKSDV
660 670 680 690 700
LSQLPAKQRK IVVIAPGRIN ARTRAALDAA AKEMTTKDKT KQQQKDALIL
710 720 730 740 750
FFNRTAEAKI PSVIEYILDL LESGREKFLV FAHHKVVLDA ITQELERKHV
760 770 780 790 800
QHIRIDGSTS SAEREDLCQQ FQLSERHAVA VLSITAANMG LTFSSADLVV
810 820 830 840 850
FAELFWNPGV LIQAEDRVHR IGQTSSVGIH YLVAKGTADD YLWPLIQEKI
860 870 880 890 900
KVLAEAGLSE TNFSEMTEST DYLYKDPKQQ KIYDLFQKSF EKEGSDMELL
910 920 930 940 950
EAAESFDPGS ASGTSGSSSQ NMGDTLDESS LTASPQKKRR FEFFDNWDSF
TSPL
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7BYI2 | H7BYI2_HUMAN | HepA-related protein | SMARCAL1 | 796 | Annotation score: | ||
H7C051 | H7C051_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 325 | Annotation score: | ||
C9JHQ1 | C9JHQ1_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 141 | Annotation score: | ||
H7C1I3 | H7C1I3_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 161 | Annotation score: | ||
C9JP32 | C9JP32_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 92 | Annotation score: | ||
C9J8F8 | C9J8F8_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 130 | Annotation score: | ||
C9J6I8 | C9J6I8_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 145 | Annotation score: | ||
C9JS37 | C9JS37_HUMAN | SWI/SNF-related matrix-associated a... | SMARCAL1 | 19 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 118 | A → T in AAF24984 (PubMed:10857751).Curated | 1 | |
Sequence conflicti | 335 | C → G in AAF24984 (PubMed:10857751).Curated | 1 | |
Sequence conflicti | 344 | E → K in BAA90955 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 882 | I → M in AAF24984 (PubMed:10857751).Curated | 1 | |
Sequence conflicti | 900 | L → V in AAF24984 (PubMed:10857751).Curated | 1 | |
Sequence conflicti | 911 | A → G in AAF24984 (PubMed:10857751).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038370 | 22 | A → G1 PublicationCorresponds to variant dbSNP:rs17851400Ensembl. | 1 | |
Natural variantiVAR_021363 | 43 | A → T. Corresponds to variant dbSNP:rs2066524EnsemblClinVar. | 1 | |
Natural variantiVAR_021364 | 114 | R → H. Corresponds to variant dbSNP:rs11555797EnsemblClinVar. | 1 | |
Natural variantiVAR_021366 | 207 | I → F. Corresponds to variant dbSNP:rs6734114Ensembl. | 1 | |
Natural variantiVAR_021367 | 315 | S → R. Corresponds to variant dbSNP:rs2066522EnsemblClinVar. | 1 | |
Natural variantiVAR_021368 | 377 | E → Q2 PublicationsCorresponds to variant dbSNP:rs2066518EnsemblClinVar. | 1 | |
Natural variantiVAR_021369 | 424 | D → V. Corresponds to variant dbSNP:rs2066520EnsemblClinVar. | 1 | |
Natural variantiVAR_036026 | 432 | L → V in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_021370 | 468 | A → P in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021371 | 548 | I → N in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473036EnsemblClinVar. | 1 | |
Natural variantiVAR_021372 | 579 | S → L in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021373 | 586 | R → 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. 3 PublicationsCorresponds to variant dbSNP:rs119473038EnsemblClinVar. | 1 | |
Natural variantiVAR_021374 | 644 | R → W in SIOD. 1 PublicationCorresponds to variant dbSNP:rs1313658611EnsemblClinVar. | 1 | |
Natural variantiVAR_021375 | 645 | R → C in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473037EnsemblClinVar. | 1 | |
Natural variantiVAR_021376 | 647 | K → Q in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021377 | 647 | K → T in SIOD. 1 Publication | 1 | |
Natural variantiVAR_021378 | 649 | D → N. Corresponds to variant dbSNP:rs2066523Ensembl. | 1 | |
Natural variantiVAR_021379 | 705 | T → I in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200644381EnsemblClinVar. | 1 | |
Natural variantiVAR_021380 | 742 | T → M. Corresponds to variant dbSNP:rs2271336EnsemblClinVar. | 1 | |
Natural variantiVAR_021381 | 764 | R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs267607071EnsemblClinVar. | 1 | |
Natural variantiVAR_021382 | 820 | R → H in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200666300EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 |
Genome annotation databases
Ensembli | ENST00000357276; ENSP00000349823; ENSG00000138375 ENST00000358207; ENSP00000350940; ENSG00000138375 |
GeneIDi | 50485 |
KEGGi | hsa:50485 |
MANE-Selecti | ENST00000357276.9; ENSP00000349823.4; NM_014140.4; NP_054859.2 |
UCSCi | uc002vgc.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
SMARCAL1base SMARCAL1 mutation db |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4MQV | X-ray | 1.95 | B/D | 5-30 | [»] | |
SMRi | Q9NZC9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119072, 30 interactors |
ELMi | Q9NZC9 |
IntActi | Q9NZC9, 15 interactors |
MINTi | Q9NZC9 |
STRINGi | 9606.ENSP00000349823 |
PTM databases
GlyConnecti | 2837, 1 N-Linked glycan (1 site) |
GlyGeni | Q9NZC9, 1 site, 1 N-linked glycan (1 site) |
iPTMneti | Q9NZC9 |
MetOSitei | Q9NZC9 |
PhosphoSitePlusi | Q9NZC9 |
Genetic variation databases
BioMutai | SMARCAL1 |
DMDMi | 60390962 |
Proteomic databases
EPDi | Q9NZC9 |
jPOSTi | Q9NZC9 |
MassIVEi | Q9NZC9 |
MaxQBi | Q9NZC9 |
PaxDbi | Q9NZC9 |
PeptideAtlasi | Q9NZC9 |
PRIDEi | Q9NZC9 |
ProteomicsDBi | 83371 |
Protocols and materials databases
Antibodypediai | 34237, 193 antibodies from 31 providers |
DNASUi | 50485 |
Genome annotation databases
Ensembli | ENST00000357276; ENSP00000349823; ENSG00000138375 ENST00000358207; ENSP00000350940; ENSG00000138375 |
GeneIDi | 50485 |
KEGGi | hsa:50485 |
MANE-Selecti | ENST00000357276.9; ENSP00000349823.4; NM_014140.4; NP_054859.2 |
UCSCi | uc002vgc.5, human |
Organism-specific databases
CTDi | 50485 |
DisGeNETi | 50485 |
GeneCardsi | SMARCAL1 |
GeneReviewsi | SMARCAL1 |
HGNCi | HGNC:11102, SMARCAL1 |
HPAi | ENSG00000138375, Low tissue specificity |
MalaCardsi | SMARCAL1 |
MIMi | 242900, phenotype 606622, gene |
neXtProti | NX_Q9NZC9 |
OpenTargetsi | ENSG00000138375 |
Orphaneti | 1830, Schimke immuno-osseous dysplasia |
PharmGKBi | PA35952 |
VEuPathDBi | HostDB:ENSG00000138375 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1000, Eukaryota |
GeneTreei | ENSGT00940000157608 |
InParanoidi | Q9NZC9 |
OMAi | NSVGIHY |
OrthoDBi | 1082831at2759 |
PhylomeDBi | Q9NZC9 |
TreeFami | TF106474 |
Enzyme and pathway databases
PathwayCommonsi | Q9NZC9 |
SignaLinki | Q9NZC9 |
Miscellaneous databases
BioGRID-ORCSi | 50485, 19 hits in 1051 CRISPR screens |
ChiTaRSi | SMARCAL1, human |
GeneWikii | SMARCAL1 |
GenomeRNAii | 50485 |
Pharosi | Q9NZC9, Tbio |
PROi | PR:Q9NZC9 |
RNActi | Q9NZC9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000138375, Expressed in sural nerve and 122 other tissues |
ExpressionAtlasi | Q9NZC9, baseline and differential |
Genevisiblei | Q9NZC9, HS |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR030101, HARP(SMARCAL1) IPR010003, HARP_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
PANTHERi | PTHR45766:SF3, PTHR45766:SF3, 2 hits |
Pfami | View protein in Pfam PF07443, HARP, 2 hits PF00271, Helicase_C, 1 hit PF00176, SNF2-rel_dom, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS51467, HARP, 2 hits PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SMAL1_HUMAN | |
Accessioni | Q9NZC9Primary (citable) accession number: Q9NZC9 Secondary accession number(s): A6NEH0 Q9UI93 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2005 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 171 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families