Tissue expression of ATIC - Summary - The Human Protein Atlas

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ATIC

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TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	ATIC
Gene description	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Protein class	Cancer-related genes Disease related genes Enzymes FDA approved drug targets Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression at variable levels.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. Pending external verification.
Reliability score	Supported based on 2 antibodies. HPA021012 , CAB013462
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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: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	ATIC (HGNC Symbol)
Synonyms	AICARFT, IMPCHASE, PURH
Description	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (HGNC Symbol)
Entrez gene summary	This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
Chromosome	2
Cytoband	q35
Chromosome location (bp)	215311817 - 215349773
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000138363 (version 83.38)
Entrez gene	471
UniProt	P31939 (UniProt - Evidence at protein level)
neXtProt	NX_P31939
Antibodypedia	ATIC antibodies

PROTEIN BROWSER

ATIC-001	ATIC-007	ATIC-009	ATIC-013

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ATIC-001 ENSP00000236959 ENST00000236959	P31939 [Direct mapping] Bifunctional purine biosynthesis protein PURH Phosphoribosylaminoimidazolecarboxamide formyltransferase IMP cyclohydrolase Bifunctional purine biosynthesis protein PURH, N-terminally processed V9HWH7 [Target identity:100%; Query identity:100%] Epididymis secretory sperm binding protein Li 70p Show all	Enzymes ENZYME proteins Transferases Hydrolases SCAMPI predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003360 [brainstem development] GO:0003824 [catalytic activity] GO:0003937 [IMP cyclohydrolase activity] GO:0004643 [phosphoribosylaminoimidazolecarboxamide formyltransferase activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005829 [cytosol] GO:0006139 [nucleobase-containing compound metabolic process] GO:0006144 [purine nucleobase metabolic process] GO:0006164 [purine nucleotide biosynthetic process] GO:0006189 ['de novo' IMP biosynthetic process] GO:0009116 [nucleoside metabolic process] GO:0009168 [purine ribonucleoside monophosphate biosynthetic process] GO:0009259 [ribonucleotide metabolic process] GO:0010035 [response to inorganic substance] GO:0016020 [membrane] GO:0021549 [cerebellum development] GO:0021987 [cerebral cortex development] GO:0031100 [organ regeneration] GO:0042803 [protein homodimerization activity] GO:0044281 [small molecule metabolic process] GO:0046452 [dihydrofolate metabolic process] GO:0046654 [tetrahydrofolate biosynthetic process] GO:0055086 [nucleobase-containing small molecule metabolic process] GO:0070062 [extracellular exosome] Show all	592 aa 64.6 kDa	No	0
ATIC-007 ENSP00000415935 ENST00000435675	P31939 [Direct mapping] Bifunctional purine biosynthesis protein PURH Phosphoribosylaminoimidazolecarboxamide formyltransferase IMP cyclohydrolase Bifunctional purine biosynthesis protein PURH, N-terminally processed Show all	Enzymes ENZYME proteins Transferases Hydrolases SCAMPI predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0003937 [IMP cyclohydrolase activity] GO:0004643 [phosphoribosylaminoimidazolecarboxamide formyltransferase activity] GO:0005829 [cytosol] GO:0006139 [nucleobase-containing compound metabolic process] GO:0006144 [purine nucleobase metabolic process] GO:0006164 [purine nucleotide biosynthetic process] GO:0006189 ['de novo' IMP biosynthetic process] GO:0009168 [purine ribonucleoside monophosphate biosynthetic process] GO:0016020 [membrane] GO:0042803 [protein homodimerization activity] GO:0044281 [small molecule metabolic process] GO:0055086 [nucleobase-containing small molecule metabolic process] GO:0070062 [extracellular exosome] Show all	591 aa 64.5 kDa	No	0
ATIC-009 ENSP00000402393 ENST00000413174	C9JLK0 [Direct mapping] Bifunctional purine biosynthesis protein PURH Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003937 [IMP cyclohydrolase activity] GO:0004643 [phosphoribosylaminoimidazolecarboxamide formyltransferase activity] GO:0006164 [purine nucleotide biosynthetic process] Show all	170 aa 18.8 kDa	No	0
ATIC-013 ENSP00000401936 ENST00000426233	H7C1S2 [Direct mapping] Bifunctional purine biosynthesis protein PURH Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0003937 [IMP cyclohydrolase activity] GO:0004643 [phosphoribosylaminoimidazolecarboxamide formyltransferase activity] GO:0006164 [purine nucleotide biosynthetic process] Show all	231 aa 25.9 kDa	No	0

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