Seroatlas · Human Serome Atlas

RECQL

ATP-dependent DNA helicase Q1

Also known as: RecQ1, RECQ1_HUMAN, RecQL1

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

Protein identityUniProt · HPA

UniProt accession: P46063
Gene: RECQL
Ensembl: ENSG00000004700
Chromosome: 12
Canonical length: 649 aa
Protein class: Enzymes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]

Canonical amino-acid sequenceUniProt

649 residues, UniProt reviewed canonical sequence.

>P46063|RECQL
     1  MASVSALTEE LDSITSELHA VEIQIQELTE RQQELIQKKK VLTKKIKQCL EDSDAGASNE
    61  YDSSPAAWNK EDFPWSGKVK DILQNVFKLE KFRPLQLETI NVTMAGKEVF LVMPTGGGKS
   121  LCYQLPALCS DGFTLVICPL ISLMEDQLMV LKQLGISATM LNASSSKEHV KWVHAEMVNK
   181  NSELKLIYVT PEKIAKSKMF MSRLEKAYEA RRFTRIAVDE VHCCSQWGHD FRPDYKALGI
   241  LKRQFPNASL IGLTATATNH VLTDAQKILC IEKCFTFTAS FNRPNLYYEV RQKPSNTEDF
   301  IEDIVKLING RYKGQSGIIY CFSQKDSEQV TVSLQNLGIH AGAYHANLEP EDKTTVHRKW
   361  SANEIQVVVA TVAFGMGIDK PDVRFVIHHS MSKSMENYYQ ESGRAGRDDM KADCILYYGF
   421  GDIFRISSMV VMENVGQQKL YEMVSYCQNI SKCRRVLMAQ HFDEVWNSEA CNKMCDNCCK
   481  DSAFERKNIT EYCRDLIKIL KQAEELNEKL TPLKLIDSWM GKGAAKLRVA GVVAPTLPRE
   541  DLEKIIAHFL IQQYLKEDYS FTAYATISYL KIGPKANLLN NEAHAITMQV TKSTQNSFRA
   601  ESSQTCHSEQ GDKKMEEKNS GNFQKKAANM LQQSGSKNTG AKKRKIDDA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RECQL 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): 0.3
Highest tissue expression: 38 nTPM

Expression across tissuesHPA

Tissue

lymph node: 38 nTPM
tonsil: 36 nTPM
appendix: 32 nTPM
thymus: 32 nTPM
spleen: 30 nTPM
smooth muscle: 28 nTPM

Single-cell type

megakaryocytes: 148 nCPM
esophageal apical cells: 118 nCPM
megakaryocyte progenitors: 78 nCPM
monocyte progenitors: 69 nCPM
erythrocyte progenitors: 64 nCPM
monocytes: 63 nCPM

Immune cell

T-reg: 45 nTPM
NK-cell: 37 nTPM
intermediate monocyte: 32 nTPM
MAIT T-cell: 32 nTPM
gdT-cell: 31 nTPM
non-classical monocyte: 31 nTPM

Brain region

medulla oblongata: 17 nTPM
white matter: 16 nTPM
thalamus: 15 nTPM
spinal cord: 14 nTPM
choroid plexus: 13 nTPM
midbrain: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RECQL.

Disease | AllUniProt

Conditions RECQL is implicated in, by any mechanism.

RECON progeroid syndrome (RECON) MIM:620370

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 1,836 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary cancer-predisposing syndrome
Malignant neoplastic disease
RECON progeroid syndrome
Leukoencephalopathy with calcifications and cysts

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): 1.31
gnomAD pLI: 0
gnomAD missense Z: 0.25
DepMap mean gene effect: -0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

KeywordsUniProt

InteractionsUniProt · HPA

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

RECQL 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 RECQL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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