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Protein

Lymphoid-specific helicase

Gene

HELLS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi248 – 255ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Helicase, Hydrolase

Keywords - Biological processi

Cell cycle, Cell division, Mitosis, Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, Nucleotide-binding

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
Name:HELLSImported
Synonyms:PASG1 Publication, SMARCA6Imported
ORF Names:Nbla10143
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:4861. HELLS.

Subcellular locationi

  • Nucleus By similarity

  • Note: Closely associated with pericentric heterochromatin.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:616911
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076582699Q → R in ICF4; unknown pathological significance. 1 Publication1
Natural variantiVAR_076583801Missing in ICF4; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3070.
MIMi616911. phenotype.
OpenTargetsiENSG00000119969.
PharmGKBiPA35054.

Polymorphism and mutation databases

BioMutaiHELLS.
DMDMi74761670.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002600511 – 838Lymphoid-specific helicaseAdd BLAST838

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei115PhosphoserineCombined sources1
Modified residuei503PhosphoserineCombined sources1
Modified residuei515PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NRZ9.
MaxQBiQ9NRZ9.
PaxDbiQ9NRZ9.
PeptideAtlasiQ9NRZ9.
PRIDEiQ9NRZ9.

PTM databases

iPTMnetiQ9NRZ9.
PhosphoSitePlusiQ9NRZ9.

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

BgeeiENSG00000119969.
ExpressionAtlasiQ9NRZ9. baseline and differential.
GenevisibleiQ9NRZ9. HS.

Organism-specific databases

HPAiCAB004491.
HPA063242.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
E2F3O007162EBI-1056215,EBI-765551

Protein-protein interaction databases

BioGridi109320. 47 interactors.
IntActiQ9NRZ9. 21 interactors.
MINTiMINT-2819086.
STRINGi9606.ENSP00000239027.

Structurei

3D structure databases

ProteinModelPortaliQ9NRZ9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini235 – 403Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini603 – 767Helicase C-terminalPROSITE-ProRule annotationAdd BLAST165

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili30 – 115Sequence analysisAdd BLAST86

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi354 – 357DEAH boxSequence analysis4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0386. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00740000115593.
HOVERGENiHBG060049.
InParanoidiQ9NRZ9.
KOiK19001.
PhylomeDBiQ9NRZ9.
TreeFamiTF329077.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. 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.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q9NRZ9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:838
Mass (Da):97,074
Last modified:October 1, 2000 - v1
Checksum:iFE8C644C23F2526E
GO
Isoform 2 (identifier: Q9NRZ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:822
Mass (Da):95,607
Checksum:iA309C9A880B6097D
GO
Isoform 31 Publication (identifier: Q9NRZ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-344: Missing.

Show »
Length:806
Mass (Da):93,323
Checksum:i8CA3BA80E4D0A8BF
GO
Isoform 41 Publication (identifier: Q9NRZ9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     783-838: Missing.

Show »
Length:782
Mass (Da):90,766
Checksum:iFB649163E59684AA
GO
Isoform 51 Publication (identifier: Q9NRZ9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-442: Missing.

Show »
Length:740
Mass (Da):85,387
Checksum:i8DB53162055D1DFC
GO
Isoform 61 Publication (identifier: Q9NRZ9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-442: Missing.

Show »
Length:708
Mass (Da):81,637
Checksum:i2D3377EDAB5399EE
GO
Isoform 71 Publication (identifier: Q9NRZ9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-345: H → L
     346-838: Missing.

Show »
Length:345
Mass (Da):39,881
Checksum:i0171AA8F1508500B
GO
Isoform 81 Publication (identifier: Q9NRZ9-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-315: VRN → IYL
     316-838: Missing.

Show »
Length:315
Mass (Da):36,407
Checksum:i3CC4A3B96843B5F6
GO
Isoform 91 Publication (identifier: Q9NRZ9-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-129: VMRKKR → GNFVCG
     130-838: Missing.

Show »
Length:129
Mass (Da):14,838
Checksum:i27119BC8DDB6D496
GO

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti136Y → F in CAD97978 (PubMed:17974005).Curated1
Sequence conflicti646D → N in CAD97978 (PubMed:17974005).Curated1
Sequence conflicti696W → C in AAH29381 (PubMed:15489334).Curated1
Sequence conflicti702L → P in BAE45737 (PubMed:12880961).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064720616H → R Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_076582699Q → R in ICF4; unknown pathological significance. 1 Publication1
Natural variantiVAR_076583801Missing in ICF4; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0522241 – 16Missing in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_052225124 – 129VMRKKR → GNFVCG in isoform 9. 1 Publication6
Alternative sequenceiVSP_052226130 – 838Missing in isoform 9. 1 PublicationAdd BLAST709
Alternative sequenceiVSP_052227313 – 442Missing in isoform 6. 1 PublicationAdd BLAST130
Alternative sequenceiVSP_052228313 – 344Missing in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_052229313 – 315VRN → IYL in isoform 8. 1 Publication3
Alternative sequenceiVSP_052230316 – 838Missing in isoform 8. 1 PublicationAdd BLAST523
Alternative sequenceiVSP_052231345 – 442Missing in isoform 5. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_052232345H → L in isoform 7. 1 Publication1
Alternative sequenceiVSP_052233346 – 838Missing in isoform 7. 1 PublicationAdd BLAST493
Alternative sequenceiVSP_052234783 – 838Missing in isoform 4. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155827 mRNA. Translation: AAF82262.1.
AB102717 mRNA. Translation: BAD10845.1.
AB102718 mRNA. Translation: BAD10846.1.
AB102719 mRNA. Translation: BAD10847.1.
AB102720 mRNA. Translation: BAD10848.1.
AB102721 mRNA. Translation: BAD10849.1.
AB102722 mRNA. Translation: BAD10850.1.
AK314485 mRNA. Translation: BAG37088.1.
AB113249 mRNA. Translation: BAD24805.1.
BX538033 mRNA. Translation: CAD97978.1.
AL138759 Genomic DNA. Translation: CAD13191.1.
CH471066 Genomic DNA. Translation: EAW50035.1.
BC015477 mRNA. Translation: AAH15477.1.
BC029381 mRNA. Translation: AAH29381.1. Different initiation.
BC030963 mRNA. Translation: AAH30963.1. Different initiation.
BC031004 mRNA. Translation: AAH31004.1. Different initiation.
AY007108 mRNA. Translation: AAG01987.1. Different initiation.
AB074174 mRNA. Translation: BAE45737.1.
CCDSiCCDS73163.1. [Q9NRZ9-5]
CCDS7434.1. [Q9NRZ9-1]
RefSeqiNP_001275996.1. NM_001289067.1.
NP_001275997.1. NM_001289068.1. [Q9NRZ9-2]
NP_001275998.1. NM_001289069.1. [Q9NRZ9-3]
NP_001275999.1. NM_001289070.1. [Q9NRZ9-5]
NP_001276000.1. NM_001289071.1.
NP_001276001.1. NM_001289072.1. [Q9NRZ9-6]
NP_001276002.1. NM_001289073.1.
NP_001276003.1. NM_001289074.1.
NP_001276004.1. NM_001289075.1.
NP_060533.2. NM_018063.4. [Q9NRZ9-1]
UniGeneiHs.463677.
Hs.655830.
Hs.658935.

Genome annotation databases

EnsembliENST00000348459; ENSP00000239027; ENSG00000119969. [Q9NRZ9-1]
ENST00000394045; ENSP00000377609; ENSG00000119969. [Q9NRZ9-5]
GeneIDi3070.
KEGGihsa:3070.
UCSCiuc001kjt.5. human. [Q9NRZ9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155827 mRNA. Translation: AAF82262.1.
AB102717 mRNA. Translation: BAD10845.1.
AB102718 mRNA. Translation: BAD10846.1.
AB102719 mRNA. Translation: BAD10847.1.
AB102720 mRNA. Translation: BAD10848.1.
AB102721 mRNA. Translation: BAD10849.1.
AB102722 mRNA. Translation: BAD10850.1.
AK314485 mRNA. Translation: BAG37088.1.
AB113249 mRNA. Translation: BAD24805.1.
BX538033 mRNA. Translation: CAD97978.1.
AL138759 Genomic DNA. Translation: CAD13191.1.
CH471066 Genomic DNA. Translation: EAW50035.1.
BC015477 mRNA. Translation: AAH15477.1.
BC029381 mRNA. Translation: AAH29381.1. Different initiation.
BC030963 mRNA. Translation: AAH30963.1. Different initiation.
BC031004 mRNA. Translation: AAH31004.1. Different initiation.
AY007108 mRNA. Translation: AAG01987.1. Different initiation.
AB074174 mRNA. Translation: BAE45737.1.
CCDSiCCDS73163.1. [Q9NRZ9-5]
CCDS7434.1. [Q9NRZ9-1]
RefSeqiNP_001275996.1. NM_001289067.1.
NP_001275997.1. NM_001289068.1. [Q9NRZ9-2]
NP_001275998.1. NM_001289069.1. [Q9NRZ9-3]
NP_001275999.1. NM_001289070.1. [Q9NRZ9-5]
NP_001276000.1. NM_001289071.1.
NP_001276001.1. NM_001289072.1. [Q9NRZ9-6]
NP_001276002.1. NM_001289073.1.
NP_001276003.1. NM_001289074.1.
NP_001276004.1. NM_001289075.1.
NP_060533.2. NM_018063.4. [Q9NRZ9-1]
UniGeneiHs.463677.
Hs.655830.
Hs.658935.

3D structure databases

ProteinModelPortaliQ9NRZ9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109320. 47 interactors.
IntActiQ9NRZ9. 21 interactors.
MINTiMINT-2819086.
STRINGi9606.ENSP00000239027.

PTM databases

iPTMnetiQ9NRZ9.
PhosphoSitePlusiQ9NRZ9.

Polymorphism and mutation databases

BioMutaiHELLS.
DMDMi74761670.

Proteomic databases

EPDiQ9NRZ9.
MaxQBiQ9NRZ9.
PaxDbiQ9NRZ9.
PeptideAtlasiQ9NRZ9.
PRIDEiQ9NRZ9.

Protocols and materials databases

DNASUi3070.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000348459; ENSP00000239027; ENSG00000119969. [Q9NRZ9-1]
ENST00000394045; ENSP00000377609; ENSG00000119969. [Q9NRZ9-5]
GeneIDi3070.
KEGGihsa:3070.
UCSCiuc001kjt.5. human. [Q9NRZ9-1]

Organism-specific databases

CTDi3070.
DisGeNETi3070.
GeneCardsiHELLS.
H-InvDBHIX0017337.
HGNCiHGNC:4861. HELLS.
HPAiCAB004491.
HPA063242.
MIMi603946. gene.
616911. phenotype.
neXtProtiNX_Q9NRZ9.
OpenTargetsiENSG00000119969.
PharmGKBiPA35054.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0386. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00740000115593.
HOVERGENiHBG060049.
InParanoidiQ9NRZ9.
KOiK19001.
PhylomeDBiQ9NRZ9.
TreeFamiTF329077.

Miscellaneous databases

ChiTaRSiHELLS. human.
GeneWikiiHELLS.
GenomeRNAii3070.
PROiQ9NRZ9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119969.
ExpressionAtlasiQ9NRZ9. baseline and differential.
GenevisibleiQ9NRZ9. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. 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.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHELLS_HUMAN
AccessioniPrimary (citable) accession number: Q9NRZ9
Secondary accession number(s): B2RB41
, Q3LID1, Q6I7N7, Q76H76, Q76H77, Q76H78, Q76H79, Q76H80, Q76H81, Q7Z397, Q7Z5X2, Q8N6P4, Q9H4P5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 127 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 10
    Human chromosome 10: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.