UniProtKB - Q9NRZ9 (HELLS_HUMAN)
Protein
Lymphoid-specific helicase
Gene
HELLS
Organism
Homo sapiens (Human)
Status
Functioni
Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 248 – 255 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- chromatin binding Source: GO_Central
- helicase activity Source: UniProtKB-KW
GO - Biological processi
- cell cycle Source: UniProtKB-KW
- cell division Source: UniProtKB-KW
- DNA methylation Source: GO_Central
- DNA methylation-dependent heterochromatin assembly Source: UniProtKB
- lymphocyte proliferation Source: UniProtKB
- maintenance of DNA methylation Source: UniProtKB
- multicellular organism development Source: UniProtKB
- pericentric heterochromatin assembly Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, Helicase, Hydrolase |
Biological process | Cell cycle, Cell division, Mitosis, Transcription, Transcription regulation |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9NRZ9 |
Names & Taxonomyi
Protein namesi | Recommended name: Lymphoid-specific helicase (EC:3.6.4.-)Alternative name(s): Proliferation-associated SNF2-like protein SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6 |
Gene namesi | ORF Names:Nbla10143 |
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
EuPathDBi | HostDB:ENSG00000119969.14 |
HGNCi | HGNC:4861, HELLS |
MIMi | 603946, gene |
neXtProti | NX_Q9NRZ9 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Note: Closely associated with pericentric heterochromatin.By similarity
Nucleus
- nucleus Source: GO_Central
Other locations
- chromosome, centromeric region Source: UniProtKB
- pericentric heterochromatin Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076582 | 699 | Q → R in ICF4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253733EnsemblClinVar. | 1 | |
Natural variantiVAR_076583 | 801 | Missing in ICF4; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3070 |
MalaCardsi | HELLS |
MIMi | 616911, phenotype |
OpenTargetsi | ENSG00000119969 |
Orphaneti | 2268, ICF syndrome |
PharmGKBi | PA35054 |
Miscellaneous databases
Pharosi | Q9NRZ9, Tbio |
Polymorphism and mutation databases
BioMutai | HELLS |
DMDMi | 74761670 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000260051 | 1 – 838 | Lymphoid-specific helicaseAdd BLAST | 838 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 115 | PhosphoserineCombined sources | 1 | |
Modified residuei | 503 | PhosphoserineCombined sources | 1 | |
Modified residuei | 515 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9NRZ9 |
jPOSTi | Q9NRZ9 |
MassIVEi | Q9NRZ9 |
MaxQBi | Q9NRZ9 |
PaxDbi | Q9NRZ9 |
PeptideAtlasi | Q9NRZ9 |
PRIDEi | Q9NRZ9 |
ProteomicsDBi | 82450 [Q9NRZ9-1] 82451 [Q9NRZ9-2] 82452 [Q9NRZ9-3] 82453 [Q9NRZ9-4] 82454 [Q9NRZ9-5] 82455 [Q9NRZ9-6] 82456 [Q9NRZ9-7] 82457 [Q9NRZ9-8] 82458 [Q9NRZ9-9] |
PTM databases
iPTMneti | Q9NRZ9 |
MetOSitei | Q9NRZ9 |
PhosphoSitePlusi | Q9NRZ9 |
Expressioni
Tissue specificityi
Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias.1 Publication
Inductioni
By concanavalin-A in peripheral blood leukocytes.1 Publication
Gene expression databases
Bgeei | ENSG00000119969, Expressed in kidney and 172 other tissues |
ExpressionAtlasi | Q9NRZ9, baseline and differential |
Genevisiblei | Q9NRZ9, HS |
Organism-specific databases
HPAi | ENSG00000119969, Tissue enhanced (lymphoid) |
Interactioni
Binary interactionsi
Hide detailsQ9NRZ9
With | #Exp. | IntAct |
---|---|---|
E2F3 [O00716] | 2 | EBI-1056215,EBI-765551 |
Isoform 6 [Q9NRZ9-6]
With | #Exp. | IntAct |
---|---|---|
GTSF1L [Q9H1H1] | 3 | EBI-12003732,EBI-19128683 |
MEOX2 [Q6FHY5] | 3 | EBI-12003732,EBI-16439278 |
SERTAD2 [Q14140] | 3 | EBI-12003732,EBI-2822051 |
Protein-protein interaction databases
BioGRIDi | 109320, 92 interactors |
IntActi | Q9NRZ9, 40 interactors |
MINTi | Q9NRZ9 |
STRINGi | 9606.ENSP00000377601 |
Miscellaneous databases
RNActi | Q9NRZ9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 235 – 403 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 169 | |
Domaini | 603 – 767 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 165 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 30 – 115 | Sequence analysisAdd BLAST | 86 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 354 – 357 | DEAH boxSequence analysis | 4 |
Sequence similaritiesi
Belongs to the SNF2/RAD54 helicase family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0385, Eukaryota |
GeneTreei | ENSGT00740000115593 |
InParanoidi | Q9NRZ9 |
PhylomeDBi | Q9NRZ9 |
TreeFami | TF329077 |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit |
InterProi | View protein in InterPro IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
Pfami | View protein in Pfam PF00271, Helicase_C, 1 hit PF00176, SNF2_N, 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 PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
s (9+)i Sequence
Sequence statusi: Complete.
This entry describes 9 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 9 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 11 Publication (identifier: Q9NRZ9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPAERPAGSG GSEAPAMVEQ LDTAVITPAM LEEEEQLEAA GLERERKMLE
60 70 80 90 100
KARMSWDRES TEIRYRRLQH LLEKSNIYSK FLLTKMEQQQ LEEQKKKEKL
110 120 130 140 150
ERKKESLKVK KGKNSIDASE EKPVMRKKRG REDESYNISE VMSKEEILSV
160 170 180 190 200
AKKNKKENED ENSSSTNLCV EDLQKNKDSN SIIKDRLSET VRQNTKFFFD
210 220 230 240 250
PVRKCNGQPV PFQQPKHFTG GVMRWYQVEG MEWLRMLWEN GINGILADEM
260 270 280 290 300
GLGKTVQCIA TIALMIQRGV PGPFLVCGPL STLPNWMAEF KRFTPDIPTM
310 320 330 340 350
LYHGTQEERQ KLVRNIYKRK GTLQIHPVVI TSFEIAMRDR NALQHCYWKY
360 370 380 390 400
LIVDEGHRIK NMKCRLIREL KRFNADNKLL LTGTPLQNNL SELWSLLNFL
410 420 430 440 450
LPDVFDDLKS FESWFDITSL SETAEDIIAK EREQNVLHML HQILTPFLLR
460 470 480 490 500
RLKSDVALEV PPKREVVVYA PLSKKQEIFY TAIVNRTIAN MFGSSEKETI
510 520 530 540 550
ELSPTGRPKR RTRKSINYSK IDDFPNELEK LISQIQPEVD RERAVVEVNI
560 570 580 590 600
PVESEVNLKL QNIMMLLRKC CNHPYLIEYP IDPVTQEFKI DEELVTNSGK
610 620 630 640 650
FLILDRMLPE LKKRGHKVLL FSQMTSMLDI LMDYCHLRDF NFSRLDGSMS
660 670 680 690 700
YSEREKNMHS FNTDPEVFIF LVSTRAGGLG INLTAADTVI IYDSDWNPQS
710 720 730 740 750
DLQAQDRCHR IGQTKPVVVY RLVTANTIDQ KIVERAAAKR KLEKLIIHKN
760 770 780 790 800
HFKGGQSGLN LSKNFLDPKE LMELLKSRDY EREIKGSREK VISDKDLELL
810 820 830
LDRSDLIDQM NASGPIKEKM GIFKILENSE DSSPECLF
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0B4J1V9 | A0A0B4J1V9_HUMAN | Helicase, lymphoid-specific, isofor... | HELLS hCG_39170 | 884 | Annotation score: | ||
A0A087WSW7 | A0A087WSW7_HUMAN | Helicase, lymphoid-specific, isofor... | HELLS hCG_39170 | 700 | Annotation score: | ||
Q76H82 | Q76H82_HUMAN | Lymphoid specific helicase variant1 | HELLS | 97 | Annotation score: | ||
Q9NW36 | Q9NW36_HUMAN | Lymphoid-specific helicase | HELLS | 310 | Annotation score: | ||
B1ALG6 | B1ALG6_HUMAN | Lymphoid-specific helicase | HELLS | 192 | Annotation score: | ||
F6XU50 | F6XU50_HUMAN | Helicase, lymphoid-specific, isofor... | HELLS hCG_39170 | 714 | Annotation score: |
Sequence cautioni
The sequence AAG01987 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH29381 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH30963 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH31004 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 136 | Y → F in CAD97978 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 646 | D → N in CAD97978 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 696 | W → C in AAH29381 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 702 | L → P in BAE45737 (PubMed:12880961).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064720 | 616 | H → R Found in a renal cell carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_076582 | 699 | Q → R in ICF4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253733EnsemblClinVar. | 1 | |
Natural variantiVAR_076583 | 801 | Missing in ICF4; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_052224 | 1 – 16 | Missing in isoform 2. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_052225 | 124 – 129 | VMRKKR → GNFVCG in isoform 9. 1 Publication | 6 | |
Alternative sequenceiVSP_052226 | 130 – 838 | Missing in isoform 9. 1 PublicationAdd BLAST | 709 | |
Alternative sequenceiVSP_052227 | 313 – 442 | Missing in isoform 6. 1 PublicationAdd BLAST | 130 | |
Alternative sequenceiVSP_052228 | 313 – 344 | Missing in isoform 3. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_052229 | 313 – 315 | VRN → IYL in isoform 8. 1 Publication | 3 | |
Alternative sequenceiVSP_052230 | 316 – 838 | Missing in isoform 8. 1 PublicationAdd BLAST | 523 | |
Alternative sequenceiVSP_052231 | 345 – 442 | Missing in isoform 5. 1 PublicationAdd BLAST | 98 | |
Alternative sequenceiVSP_052232 | 345 | H → L in isoform 7. 1 Publication | 1 | |
Alternative sequenceiVSP_052233 | 346 – 838 | Missing in isoform 7. 1 PublicationAdd BLAST | 493 | |
Alternative sequenceiVSP_052234 | 783 – 838 | Missing in isoform 4. 1 PublicationAdd BLAST | 56 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000348459; ENSP00000239027; ENSG00000119969 [Q9NRZ9-1] ENST00000394045; ENSP00000377609; ENSG00000119969 [Q9NRZ9-5] |
GeneIDi | 3070 |
KEGGi | hsa:3070 |
UCSCi | uc001kjt.5, human [Q9NRZ9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q9NRZ9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109320, 92 interactors |
IntActi | Q9NRZ9, 40 interactors |
MINTi | Q9NRZ9 |
STRINGi | 9606.ENSP00000377601 |
PTM databases
iPTMneti | Q9NRZ9 |
MetOSitei | Q9NRZ9 |
PhosphoSitePlusi | Q9NRZ9 |
Polymorphism and mutation databases
BioMutai | HELLS |
DMDMi | 74761670 |
Proteomic databases
EPDi | Q9NRZ9 |
jPOSTi | Q9NRZ9 |
MassIVEi | Q9NRZ9 |
MaxQBi | Q9NRZ9 |
PaxDbi | Q9NRZ9 |
PeptideAtlasi | Q9NRZ9 |
PRIDEi | Q9NRZ9 |
ProteomicsDBi | 82450 [Q9NRZ9-1] 82451 [Q9NRZ9-2] 82452 [Q9NRZ9-3] 82453 [Q9NRZ9-4] 82454 [Q9NRZ9-5] 82455 [Q9NRZ9-6] 82456 [Q9NRZ9-7] 82457 [Q9NRZ9-8] 82458 [Q9NRZ9-9] |
Protocols and materials databases
Antibodypediai | 3852, 259 antibodies |
DNASUi | 3070 |
Genome annotation databases
Ensembli | ENST00000348459; ENSP00000239027; ENSG00000119969 [Q9NRZ9-1] ENST00000394045; ENSP00000377609; ENSG00000119969 [Q9NRZ9-5] |
GeneIDi | 3070 |
KEGGi | hsa:3070 |
UCSCi | uc001kjt.5, human [Q9NRZ9-1] |
Organism-specific databases
CTDi | 3070 |
DisGeNETi | 3070 |
EuPathDBi | HostDB:ENSG00000119969.14 |
GeneCardsi | HELLS |
HGNCi | HGNC:4861, HELLS |
HPAi | ENSG00000119969, Tissue enhanced (lymphoid) |
MalaCardsi | HELLS |
MIMi | 603946, gene 616911, phenotype |
neXtProti | NX_Q9NRZ9 |
OpenTargetsi | ENSG00000119969 |
Orphaneti | 2268, ICF syndrome |
PharmGKBi | PA35054 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0385, Eukaryota |
GeneTreei | ENSGT00740000115593 |
InParanoidi | Q9NRZ9 |
PhylomeDBi | Q9NRZ9 |
TreeFami | TF329077 |
Enzyme and pathway databases
PathwayCommonsi | Q9NRZ9 |
Miscellaneous databases
BioGRID-ORCSi | 3070, 9 hits in 850 CRISPR screens |
ChiTaRSi | HELLS, human |
GeneWikii | HELLS |
GenomeRNAii | 3070 |
Pharosi | Q9NRZ9, Tbio |
PROi | PR:Q9NRZ9 |
RNActi | Q9NRZ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119969, Expressed in kidney and 172 other tissues |
ExpressionAtlasi | Q9NRZ9, baseline and differential |
Genevisiblei | Q9NRZ9, HS |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit |
InterProi | View protein in InterPro IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
Pfami | View protein in Pfam PF00271, Helicase_C, 1 hit PF00176, SNF2_N, 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 PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HELLS_HUMAN | |
Accessioni | Q9NRZ9Primary (citable) accession number: Q9NRZ9 Secondary accession number(s): B2RB41 Q9H4P5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2006 |
Last sequence update: | October 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 157 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations