Seroatlas · Human Serome Atlas

RECQL4

ATP-dependent DNA helicase Q4

Also known as: RecQ4, RECQ4_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O94761
Gene: RECQL4
Ensembl: ENSG00000160957
Chromosome: 8
Canonical length: 1208 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

1208 residues, UniProt reviewed canonical sequence.

>O94761|RECQL4
     1  MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR TTGQAGGGLR
    61  SSESLPAAAE EAPEPRCWGP HLNRAATKSP QSTPGRSRQG SVPDYGQRLK ANLKGTLQAG
   121  PALGRRPWPL GRASSKASTP KPPGTGPVPS FAEKVSDEPP QLPEPQPRPG RLQHLQASLS
   181  QRLGSLDPGW LQRCHSEVPD FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS
   241  AFQEVSIRVG SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG
   301  EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR GNYVRLNMKQ
   361  KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK ESCFLNEQFD HWAAQCPRPA
   421  SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV LPLYSLGPSG QLAETPAEVF QALEQLGHQA
   481  FRPGQERAVM RILSGISTLL VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ
   541  VSGLPPCLKA ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA
   601  FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS DVAQHLAVAE
   661  EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL DSIIIYCNRR EDTERIAALL
   721  RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS RERRRVQRAF MQGQLRVVVA TVAFGMGLDR
   781  PDVRAVLHLG LPPSFESYVQ AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL
   841  AVKRLVQRVF PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH
   901  ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP GGPAQLQALA
   961  HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL ASVRRALCQL QWDHEPRTGV
  1021  RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ ICDFLYGRVQ ARERQALARL RRTFQAFHSV
  1081  AFPSCGPCLE QQDEERSTRL KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR
  1141  CDIRQFLSLR PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT
  1201  EELLQVAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RECQL4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 24 nTPM
testis: 22 nTPM
cerebellum: 14 nTPM
esophagus: 13 nTPM
skin: 9.3 nTPM
prostate: 8.6 nTPM

Single-cell type

early primary spermatocytes: 32 nCPM
oocytes: 32 nCPM
differentiating spermatogonia: 22 nCPM
erythrocyte progenitors: 20 nCPM
breast lactating cells: 18 nCPM
monocyte progenitors: 14 nCPM

Immune cell

memory B-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM
gdT-cell: 0.2 nTPM
intermediate monocyte: 0.2 nTPM
memory CD8 T-cell: 0.2 nTPM
memory CD4 T-cell: 0.1 nTPM

Brain region

cerebellum: 22 nTPM
pons: 22 nTPM
cerebral cortex: 20 nTPM
medulla oblongata: 16 nTPM
thalamus: 15 nTPM
basal ganglia: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RECQL4.

Disease | AllUniProt

Conditions RECQL4 is implicated in, by any mechanism.

RAPADILINO syndrome (RAPADILINOS) MIM:266280
Baller-Gerold syndrome (BGS) MIM:218600
Rothmund-Thomson syndrome 2 (RTS2) MIM:268400

Disease | GeneticClinVar

389 pathogenic / likely-pathogenic of 5,458 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Baller-Gerold syndrome
Rothmund-Thomson syndrome type 2
Rapadilino syndrome
RECQL4-related disorder
Rothmund-Thomson syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.21
gnomAD pLI: 0
gnomAD missense Z: -4.22

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Helicase, C-terminal domain-like
DNA helicase, ATP-dependent, RecQ type
DEAD/DEAH-box helicase domain
Helicase superfamily 1/2, ATP-binding domain
P-loop containing nucleoside triphosphate hydrolase
DEAD/DEAH box helicase
Helicase conserved C-terminal domain
DNA replication/checkpoint protein
DNA replication and checkpoint protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RECQL4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RECQL4 as an antibody target. Whether an autoantibody or antibody against RECQL4 could matter depends on whether native RECQL4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RECQL4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RECQL4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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