Tissue expression of FREM1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	FREM1
Gene description	FRAS1 related extracellular matrix 1
Protein class	Disease related genes Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (epididymis, endometrium)
GTEx:	Mixed
FANTOM5:	Tissue enhanced (endometrium)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

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

GENE INFORMATION
Gene name	FREM1 (HGNC Symbol)
Synonyms	C9orf143, C9orf145, C9orf154, DKFZp686M16108, FLJ25461, TILRR
Description	FRAS1 related extracellular matrix 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
Chromosome	9
Cytoband	p22.3
Chromosome location (bp)	14734666 - 14910995
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000164946 (version 83.38)
Entrez gene	158326
UniProt	Q5H8C1 (UniProt - Evidence at protein level)
neXtProt	NX_Q5H8C1
Antibodypedia	FREM1 antibodies

PROTEIN BROWSER

FREM1-001	FREM1-002	FREM1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
FREM1-001 ENSP00000370262 ENST00000380880	Q5H8C1 [Direct mapping] FRAS1-related extracellular matrix protein 1 Show all	THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Show all	GO:0005604 [basement membrane] GO:0007154 [cell communication] GO:0016021 [integral component of membrane] GO:0030246 [carbohydrate binding] GO:0046872 [metal ion binding] GO:0097094 [craniofacial suture morphogenesis] Show all	2179 aa 244.2 kDa	Yes	0
FREM1-002 ENSP00000370278 ENST00000380894	Q5H8C1 [Direct mapping] FRAS1-related extracellular matrix protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0005604 [basement membrane] GO:0007154 [cell communication] GO:0016021 [integral component of membrane] GO:0030246 [carbohydrate binding] GO:0046872 [metal ion binding] GO:0097094 [craniofacial suture morphogenesis] Show all	715 aa 80.2 kDa	No	0
FREM1-201 ENSP00000412940 ENST00000422223	Q5H8C1 [Direct mapping] FRAS1-related extracellular matrix protein 1 Show all	THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0005604 [basement membrane] GO:0007154 [cell communication] GO:0007160 [cell-matrix adhesion] GO:0016021 [integral component of membrane] GO:0030246 [carbohydrate binding] GO:0046872 [metal ion binding] GO:0097094 [craniofacial suture morphogenesis] Show all	2179 aa 244.2 kDa	Yes	0