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HUMAN:SMAL1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) SMARCAL1 (synonyms: HARP)
Protein Name(s) SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

HepA-related protein hHARP Sucrose nonfermenting protein 2-like 1

External Links
UniProt Q9NZC9
EMBL AF082179
AF210842
AF210833
AF210834
AF210835
AF210836
AF210837
AF210838
AF210839
AF210840
AF210841
AF432223
AC098820
CH471063
BC016482
BC043341
AL122076
AK000117
CCDS CCDS2403.1
PIR T34557
RefSeq NP_001120679.1
NP_054859.2
XP_005246688.1
XP_005246689.1
UniGene Hs.516674
PDB 4MQV
PDBsum 4MQV
ProteinModelPortal Q9NZC9
SMR Q9NZC9
BioGrid 119072
IntAct Q9NZC9
MINT MINT-8415341
STRING 9606.ENSP00000349823
iPTMnet Q9NZC9
PhosphoSitePlus Q9NZC9
BioMuta SMARCAL1
DMDM 60390962
EPD Q9NZC9
MaxQB Q9NZC9
PaxDb Q9NZC9
PeptideAtlas Q9NZC9
PRIDE Q9NZC9
DNASU 50485
Ensembl ENST00000357276
ENST00000358207
GeneID 50485
KEGG hsa:50485
UCSC uc002vgc.5
CTD 50485
DisGeNET 50485
GeneCards SMARCAL1
GeneReviews SMARCAL1
HGNC HGNC:11102
HPA HPA020337
MalaCards SMARCAL1
MIM 242900
606622
neXtProt NX_Q9NZC9
OpenTargets ENSG00000138375
Orphanet 1830
PharmGKB PA35952
eggNOG KOG1000
COG0553
GeneTree ENSGT00860000133750
HOVERGEN HBG054110
InParanoid Q9NZC9
KO K14440
OMA EREDLCQ
OrthoDB EOG091G0A1B
PhylomeDB Q9NZC9
TreeFam TF106474
ChiTaRS SMARCAL1
GeneWiki SMARCAL1
GenomeRNAi 50485
PRO PR:Q9NZC9
Proteomes UP000005640
Bgee ENSG00000138375
CleanEx HS_SMARCAL1
ExpressionAtlas Q9NZC9
Genevisible Q9NZC9
GO GO:0005654
GO:0005634
GO:0035861
GO:0036310
GO:0005524
GO:0008094
GO:0004386
GO:0006974
GO:0006259
GO:0006357
GO:0031297
GO:0090656
InterPro IPR010003
IPR014001
IPR001650
IPR027417
IPR000330
Pfam PF07443
PF00271
PF00176
SMART SM00487
SM00490
SUPFAM SSF52540
PROSITE PS51467
PS51192
PS51194

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0006303

double-strand break repair via nonhomologous end joining

PMID:26089390[1]

ECO:0000315

P

Human cells with a deletion in Smarcal1 have less frequent double stranded break repair events. This is seen in Figure 5B where cells with the Smarcal1 deletion show a 4fold decrease in DSB repair events compared to wild type.

complete
CACAO 12729

enables

GO:0036310

annealing helicase activity

PMID:18974355[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0036310

annealing helicase activity

PMID:22705370[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0035861

site of double-strand break

PMID:19793862[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0035861

site of double-strand break

PMID:19793863[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0031297

replication fork processing

PMID:19793862[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0008094

DNA-dependent ATPase activity

PMID:18974355[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:19793862[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006357

regulation of transcription by RNA polymerase II

PMID:18974355[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006259

DNA metabolic process

PMID:18974355[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

colocalizes_with

GO:0005662

DNA replication factor A complex

PMID:19793862[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

colocalizes_with

GO:0005662

DNA replication factor A complex

PMID:19793863[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:18974355[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0048478

replication fork protection

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002908525
UniProtKB:Q5FWF4

P

Seeded From UniProt

complete

part_of

GO:0043596

nuclear replication fork

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002244927
UniProtKB:Q5FWF4

C

Seeded From UniProt

complete

enables

GO:0036310

annealing helicase activity

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0031655
PANTHER:PTN002908525
UniProtKB:Q5FWF4
UniProtKB:Q9NZC9

F

Seeded From UniProt

complete

involved_in

GO:0036292

DNA rewinding

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0031655
PANTHER:PTN002908525
UniProtKB:Q5FWF4

P

Seeded From UniProt

complete

involved_in

GO:0031297

replication fork processing

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002908525
UniProtKB:Q5FWF4
UniProtKB:Q9NZC9

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002908525
UniProtKB:Q5FWF4
UniProtKB:Q9NZC9

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002908525
UniProtKB:Q5FWF4

P

Seeded From UniProt

complete

colocalizes_with

GO:0005662

DNA replication factor A complex

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000084485
UniProtKB:Q9NZC9

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0031655
PANTHER:PTN002244927
UniProtKB:Q5FWF4
UniProtKB:Q9NZC9

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000733

DNA strand renaturation

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic annotation used in automatic assertion

GO:0036310

P

Seeded From UniProt

complete

involved_in

GO:0000733

DNA strand renaturation

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0036310

P

Seeded From UniProt

complete

involved_in

GO:0000733

DNA strand renaturation

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0036310

P

Seeded From UniProt

complete

involved_in

GO:0000733

DNA strand renaturation

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0036310

P

Seeded From UniProt

complete

enables

GO:0008094

DNA-dependent ATPase activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BJL0
ensembl:ENSMUSP00000047589

F

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR000330

F

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030101

P

Seeded From UniProt

complete

involved_in

GO:0031297

replication fork processing

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030101

P

Seeded From UniProt

complete

enables

GO:0036310

annealing helicase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030101

F

Seeded From UniProt

complete

involved_in

GO:0031297

replication fork processing

PMID:27918544[7]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

occurs_at:(GO:0000781)

Seeded From UniProt

complete

involved_in

GO:0090656

t-circle formation

PMID:27918544[7]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0000166

nucleotide binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0547

F

Seeded From UniProt

complete

enables

GO:0004386

helicase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0347

F

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0067

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. Keka, IS et al. (2015) Smarcal1 promotes double-strand-break repair by nonhomologous end-joining. Nucleic Acids Res. 43 6359-72 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 2.4 Yusufzai, T & Kadonaga, JT (2008) HARP is an ATP-driven annealing helicase. Science 322 748-50 PubMed GONUTS page
  3. Yuan, J et al. (2012) The HARP-like domain-containing protein AH2/ZRANB3 binds to PCNA and participates in cellular response to replication stress. Mol. Cell 47 410-21 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 Ciccia, A et al. (2009) The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. Genes Dev. 23 2415-25 PubMed GONUTS page
  5. 5.0 5.1 Yusufzai, T et al. (2009) The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA. Genes Dev. 23 2400-4 PubMed GONUTS page
  6. 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 6.8 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  7. 7.0 7.1 Rivera, T et al. (2017) A balance between elongation and trimming regulates telomere stability in stem cells. Nat. Struct. Mol. Biol. 24 30-39 PubMed GONUTS page