Tissue expression of EFEMP1 - Summary - The Human Protein Atlas

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EFEMP1

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	EFEMP1
Gene description	EGF containing fibulin-like extracellular matrix protein 1
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	10
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

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

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in photoreceptors, inner and outer plexiform layers and nerve fiber layer in retina. Extracellular positivity in most tissues.

DATA RELIABILITY
Data reliability description	Limited external characterization data supports antibody staining but no internal RNA data available for correlation. Paired antibodies with high similarity supports the protein profile.
Reliability score	Supported based on 2 antibodies. HPA070841 , CAB016368
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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

Eye

N/A

Retina

N/A

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: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	EFEMP1 (HGNC Symbol)
Synonyms	DHRD, FBLN3, FBNL, MTLV, S1-5
Description	EGF containing fibulin-like extracellular matrix protein 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Chromosome	2
Cytoband	p16.1
Chromosome location (bp)	55865967 - 55924139
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000115380 (version 83.38)
Entrez gene	2202
UniProt	Q12805 (UniProt - Evidence at protein level)
neXtProt	NX_Q12805
Antibodypedia	EFEMP1 antibodies

PROTEIN BROWSER

EFEMP1-001	EFEMP1-003	EFEMP1-004	EFEMP1-005	EFEMP1-006	EFEMP1-007	EFEMP1-008	EFEMP1-009	EFEMP1-011	EFEMP1-016

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
EFEMP1-001 ENSP00000378058 ENST00000394555	Q12805 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005006 [epidermal growth factor-activated receptor activity] GO:0005154 [epidermal growth factor receptor binding] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005604 [basement membrane] GO:0005615 [extracellular space] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007601 [visual perception] GO:0008083 [growth factor activity] GO:0008284 [positive regulation of cell proliferation] GO:0010977 [negative regulation of neuron projection development] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0030198 [extracellular matrix organization] GO:0031012 [extracellular matrix] GO:0031346 [positive regulation of cell projection organization] GO:0032331 [negative regulation of chondrocyte differentiation] GO:0043010 [camera-type eye development] GO:0048048 [embryonic eye morphogenesis] GO:0048050 [post-embryonic eye morphogenesis] GO:0070062 [extracellular exosome] GO:1903975 [regulation of glial cell migration] Show all	493 aa 54.6 kDa	Yes	0
EFEMP1-003 ENSP00000347596 ENST00000355426	Q12805 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005006 [epidermal growth factor-activated receptor activity] GO:0005154 [epidermal growth factor receptor binding] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005615 [extracellular space] GO:0006355 [regulation of transcription, DNA-templated] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007601 [visual perception] GO:0008083 [growth factor activity] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0030198 [extracellular matrix organization] GO:0031012 [extracellular matrix] GO:0032331 [negative regulation of chondrocyte differentiation] GO:0043010 [camera-type eye development] GO:0048048 [embryonic eye morphogenesis] GO:0048050 [post-embryonic eye morphogenesis] GO:0070062 [extracellular exosome] Show all	493 aa 54.6 kDa	Yes	0
EFEMP1-004 ENSP00000408195 ENST00000439193	C9JPZ9 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] Show all	119 aa 12.7 kDa	Yes	0
EFEMP1-005 ENSP00000389319 ENST00000429909	C9JQX7 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] Show all	87 aa 9.8 kDa	Yes	0
EFEMP1-006 ENSP00000398345 ENST00000440439	C9J4J8 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] Show all	106 aa 11.5 kDa	Yes	0
EFEMP1-007 ENSP00000398387 ENST00000424207	C9J4H7 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		27 aa 3.1 kDa	Yes	0
EFEMP1-008 ENSP00000392055 ENST00000438672	Q580Q6 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1; Putative uncharacterized protein EFEMP1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] Show all	172 aa 18.4 kDa	Yes	0
EFEMP1-009 ENSP00000405686 ENST00000421664	C9J8S9 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		52 aa 6 kDa	Yes	0
EFEMP1-011 ENSP00000399480 ENST00000452337	C9JUM4 [Direct mapping] EGF-containing fibulin-like extracellular matrix protein 1 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		62 aa 7 kDa	Yes	0
EFEMP1-016 ENSP00000489183 ENST00000634374		Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] GO:0005515 [protein binding] Show all	280 aa 31.6 kDa	No	0

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The Human Protein Atlas

The Human Protein Atlas project is funded
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