Tissue expression of RECQL4 - Summary - The Human Protein Atlas

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RECQL4

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TISSUE

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CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	RECQL4
Gene description	RecQ helicase-like 4
Protein class	Cancer-related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Tissue enhanced (testis)
FANTOM5:	Tissue enhanced (testis, appendix)

Protein evidence

Evidence at protein level

Protein expression

Nuclear expression in most tissues at variable levels.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.
Reliability score	Supported based on 2 antibodies. HPA025821 , CAB017800
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis, appendix)

GENE INFORMATION
Gene name	RECQL4 (HGNC Symbol)
Synonyms	RecQ4
Description	RecQ helicase-like 4 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	8
Cytoband	q24.3
Chromosome location (bp)	144511288 - 144517845
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000160957 (version 83.38)
Entrez gene	9401
UniProt
neXtProt
Antibodypedia	RECQL4 antibodies

PROTEIN BROWSER

RECQL4-001	RECQL4-002	RECQL4-005	RECQL4-007	RECQL4-008	RECQL4-011

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
RECQL4-001 ENSP00000483145 ENST00000621189	A0A087X072 [Direct mapping] ATP-dependent DNA helicase Q4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Show all	GO:0003676 [nucleic acid binding] GO:0005524 [ATP binding] GO:0006310 [DNA recombination] GO:0008026 [ATP-dependent helicase activity] Show all	851 aa 94.6 kDa	No	0
RECQL4-002 ENSP00000482313 ENST00000617875	A0A087WZ30 [Direct mapping] ATP-dependent DNA helicase Q4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Show all	GO:0003676 [nucleic acid binding] GO:0005524 [ATP binding] GO:0006310 [DNA recombination] GO:0008026 [ATP-dependent helicase activity] Show all	1208 aa 133.1 kDa	No	0
RECQL4-005 ENSP00000476579 ENST00000524998	V9GYB6 [Direct mapping] ATP-dependent DNA helicase Q4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Show all		229 aa 24.9 kDa	No	0
RECQL4-007 ENSP00000476551 ENST00000532846	V9GYA3 [Direct mapping] ATP-dependent DNA helicase Q4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Show all	GO:0003676 [nucleic acid binding] GO:0005524 [ATP binding] GO:0008270 [zinc ion binding] Show all	352 aa 38.3 kDa	No	0
RECQL4-008 ENSP00000477457 ENST00000534626	V9GZ64 [Direct mapping] ATP-dependent DNA helicase Q4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Show all	GO:0003676 [nucleic acid binding] GO:0005524 [ATP binding] Show all	389 aa 42.8 kDa	No	0
RECQL4-011 ENSP00000477910 ENST00000531875	A0A087WTJ0 [Direct mapping] ATP-dependent DNA helicase Q4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Show all		293 aa 33.3 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.