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UniProtKB - Q9NRZ9 (HELLS_HUMAN)

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Protein

Lymphoid-specific helicase

Gene

HELLS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, Helicase, Hydrolase
Biological processCell cycle, Cell division, Mitosis, Transcription, Transcription regulation
LigandATP-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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000119969.14
HGNCiHGNC:4861 HELLS
MIMi603946 gene
neXtProtiNX_Q9NRZ9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 PublicationCorresponds to variant dbSNP:rs879253733Ensembl.1
Natural variantiVAR_076583801Missing in ICF4; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3070
MalaCardsiHELLS
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
ProteomicsDBi82450
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

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

Show more details

Protein-protein interaction databases

BioGridi109320, 57 interactors
IntActiQ9NRZ9, 27 interactors
MINTiQ9NRZ9
STRINGi9606.ENSP00000239027

Structurei

3D structure databases

ProteinModelPortaliQ9NRZ9
SMRiQ9NRZ9
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0386 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00740000115593
HOVERGENiHBG060049
InParanoidiQ9NRZ9
KOiK19001
PhylomeDBiQ9NRZ9
TreeFamiTF329077

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 3 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

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 PublicationCorresponds to variant dbSNP:rs879253733Ensembl.1
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

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2000
Last modified: July 18, 2018
This is version 140 of the entry and version 1 of the sequence. See 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

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