TMEFF1

Functionⁱ

May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers.By similarity1 Publication

GO - Biological processⁱ

multicellular organism development Source: UniProtKB-KW

Complete GO annotation...

Keywordsⁱ

Molecular function	Developmental protein

Molecular function

Developmental protein

Protein family/group databases

MEROPS protease database More...MEROPSⁱ	I01.974.

MEROPSⁱ

I01.974.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Tomoregulin-1 Short name: TR-1 Alternative name(s): H7365 Transmembrane protein with EGF-like and one follistatin-like domain
Gene namesⁱ	Name:TMEFF1 Synonyms:C9orf2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11866. TMEFF1.

HGNCⁱ

HGNC:11866. TMEFF1.

Subcellular locationⁱ

Cell membrane
1 Publication
Manual assertion based on experiment inⁱ
- Ref.5
  "TMEFF1 and brain tumors."
  Gery S., Yin D., Xie D., Black K.L., Koeffler H.P.
  Oncogene 22:2723-2727(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION.
; Single-pass type I membrane protein
1 Publication
Manual assertion based on experiment inⁱ
- Ref.5
  "TMEFF1 and brain tumors."
  Gery S., Yin D., Xie D., Black K.L., Koeffler H.P.
  Oncogene 22:2723-2727(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION.

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	40 – 330	ExtracellularSequence analysisAdd BLAST	291
Transmembraneⁱ	331 – 351	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	352 – 380	CytoplasmicSequence analysisAdd BLAST	29

GO - Cellular componentⁱ

integral component of membrane Source: UniProtKB-KW
plasma membrane Source: UniProtKB-SubCell

Complete GO annotation...

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	8577.
Open Targets More...OpenTargetsⁱ	ENSG00000241697. ENSG00000251349.
PharmGKBⁱ	PA36567.

Polymorphism and mutation databases

BioMutaⁱ	TMEFF1.
DMDMⁱ	74750770.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 39	Sequence analysisAdd BLAST		39
ChainⁱPRO_0000286056	40 – 380	Tomoregulin-1Add BLAST		341

Amino acid modifications

Feature key	Position(s)	DescriptionActions
Disulfide bondⁱ	275 ↔ 288	By similarity
Disulfide bondⁱ	283 ↔ 299	By similarity
Disulfide bondⁱ	301 ↔ 310	By similarity

Keywords - PTMⁱ

Disulfide bond

Proteomic databases

EPDⁱ	Q8IYR6.
PaxDbⁱ	Q8IYR6.
PeptideAtlas More...PeptideAtlasⁱ	Q8IYR6.
PRIDEⁱ	Q8IYR6.

PTM databases

iPTMnetⁱ	Q8IYR6.
PhosphoSitePlusⁱ	Q8IYR6.

Expressionⁱ

Tissue specificityⁱ

Expressed predominantly in brain, and at lower levels in heart, placenta and skeletal muscle. Down-regulated in brain tumors as compared to control brain tissues.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000241697.
CleanExⁱ	HS_TMEFF1.
Genevisibleⁱ	Q8IYR6. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA051501.

HPAⁱ

HPA051501.

Interactionⁱ

Subunit structureⁱ

May interact with ST14.

Protein-protein interaction databases

BioGridⁱ	114145. 19 interactors.
IntActⁱ	Q8IYR6. 8 interactors.
STRINGⁱ	9606.ENSP00000364013.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8IYR6.
SMRⁱ	Q8IYR6.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	93 – 145	Kazal-like 1PROSITE-ProRule annotationAdd BLAST	53
Domainⁱ	184 – 237	Kazal-like 2PROSITE-ProRule annotationAdd BLAST	54
Domainⁱ	271 – 311	EGF-likePROSITE-ProRule annotationAdd BLAST	41

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	45 – 52	Poly-Gly		8

Sequence similaritiesⁱ

Belongs to the tomoregulin family.Curated

Keywords - Domainⁱ

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IP0E. Eukaryota. ENOG410XQG4. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00730000110884.
HOGENOMⁱ	HOG000154541.
HOVERGENⁱ	HBG053816.
InParanoidⁱ	Q8IYR6.
OMAⁱ	CFVREAS.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AKU.
PhylomeDBⁱ	Q8IYR6.
TreeFamⁱ	TF330868.

Family and domain databases

InterProⁱ	View protein in InterPro IPR013032. EGF-like_CS. IPR000742. EGF-like_dom. IPR002350. Kazal_dom.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07648. Kazal_2. 2 hits.
SMARTⁱ	View protein in SMART SM00280. KAZAL. 2 hits.
SUPFAMⁱ	SSF100895. SSF100895. 2 hits.
PROSITEⁱ	View protein in PROSITE PS00022. EGF_1. 1 hit. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 2 hits. PS51465. KAZAL_2. 2 hits.

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q8IYR6-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGAAAAEAPL RLPAAPPLAF CCYTSVLLLF AFSLPGSRAS NQPPGGGGGS 
        60         70         80         90        100
GGDCPGGKGK SINCSELNVR ESDVRVCDES SCKYGGVCKE DGDGLKCACQ 
       110        120        130        140        150
FQCHTNYIPV CGSNGDTYQN ECFLRRAACK HQKEITVIAR GPCYSDNGSG 
       160        170        180        190        200
SGEGEEEGSG AEVHRKHSKC GPCKYKAECD EDAENVGCVC NIDCSGYSFN 
       210        220        230        240        250
PVCASDGSSY NNPCFVREAS CIKQEQIDIR HLGHCTDTDD TSLLGKKDDG 
       260        270        280        290        300
LQYRPDVKDA SDQREDVYIG NHMPCPENLN GYCIHGKCEF IYSTQKASCR 
       310        320        330        340        350
CESGYTGQHC EKTDFSILYV VPSRQKLTHV LIAAIIGAVQ IAIIVAIVMC 
       360        370        380
ITRKCPKNNR GRRQKQNLGH FTSDTSSRMV

Length:380

Mass (Da):40,934

Last modified:March 1, 2003 - v1

Checksum:ⁱ0F95B3469ACD4601

GO

Isoform 2 (identifier: Q8IYR6-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-65: MGAAAAEAPL...GGKGKSINCS → MLPEQLYFLQSPPEEEPEYHPDASAQ

« Hide

        10         20         30         40         50
MLPEQLYFLQ SPPEEEPEYH PDASAQELNV RESDVRVCDE SSCKYGGVCK 
        60         70         80         90        100
EDGDGLKCAC QFQCHTNYIP VCGSNGDTYQ NECFLRRAAC KHQKEITVIA 
       110        120        130        140        150
RGPCYSDNGS GSGEGEEEGS GAEVHRKHSK CGPCKYKAEC DEDAENVGCV 
       160        170        180        190        200
CNIDCSGYSF NPVCASDGSS YNNPCFVREA SCIKQEQIDI RHLGHCTDTD 
       210        220        230        240        250
DTSLLGKKDD GLQYRPDVKD ASDQREDVYI GNHMPCPENL NGYCIHGKCE 
       260        270        280        290        300
FIYSTQKASC RCESGYTGQH CEKTDFSILY VVPSRQKLTH VLIAAIIGAV 
       310        320        330        340 
QIAIIVAIVM CITRKCPKNN RGRRQKQNLG HFTSDTSSRM V

Note: No experimental confirmation available.

Show »

Length:341

Mass (Da):37,757

Checksum:ⁱ023C42EE31C0A5A3

GO

Sequence cautionⁱ

The sequence AAA64622 differs from that shown. Reason: Frameshift at positions 293 and 297.Curated

The sequence CAA58791 differs from that shown. Reason: Frameshift at positions 293 and 297.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	7	E → Q in AAA64622 (PubMed:8752111).Curated	1
Sequence conflictⁱ	7	E → Q in CAA58791 (PubMed:8752111).Curated	1
Sequence conflictⁱ	11	R → G in AAA64622 (PubMed:8752111).Curated	1
Sequence conflictⁱ	11	R → G in CAA58791 (PubMed:8752111).Curated	1
Sequence conflictⁱ	16 – 23	PPLAFCCY → SARLLLLA in AAA64622 (PubMed:8752111).Curated	8
Sequence conflictⁱ	16 – 23	PPLAFCCY → SARLLLLA in CAA58791 (PubMed:8752111).Curated	8
Sequence conflictⁱ	50	S → T in AAA64622 (PubMed:8752111).Curated	1
Sequence conflictⁱ	50	S → T in CAA58791 (PubMed:8752111).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_032060	189	V → I. Corresponds to variant dbSNP:rs35624603Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_024959	1 – 65	MGAAA…SINCS → MLPEQLYFLQSPPEEEPEYH PDASAQ in isoform 2. 1 PublicationAdd BLAST		65

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U19878 mRNA. Translation: AAA64622.1. Frameshift. X83961 mRNA. Translation: CAA58791.1. Frameshift. AL831919 mRNA. Translation: CAD38580.2. AL353805, AL354917 Genomic DNA. Translation: CAI12543.1. AL354917, AL353805 Genomic DNA. Translation: CAI16192.1. BC035056 mRNA. Translation: AAH35056.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6750.1. [Q8IYR6-1]
PIRⁱ	G01639.
NCBI Reference Sequences More...RefSeqⁱ	NP_001185741.1. NM_001198812.1. NP_003683.2. NM_003692.4. [Q8IYR6-1]
UniGeneⁱ	Hs.598100.

Genome annotation databases

Ensemblⁱ	ENST00000374879; ENSP00000364013; ENSG00000241697. [Q8IYR6-1]
GeneIDⁱ	100526694. 8577.
KEGGⁱ	hsa:100526694. hsa:8577.
UCSC genome browser More...UCSCⁱ	uc004baz.3. human. [Q8IYR6-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U19878 mRNA. Translation: AAA64622.1. Frameshift. X83961 mRNA. Translation: CAA58791.1. Frameshift. AL831919 mRNA. Translation: CAD38580.2. AL353805, AL354917 Genomic DNA. Translation: CAI12543.1. AL354917, AL353805 Genomic DNA. Translation: CAI16192.1. BC035056 mRNA. Translation: AAH35056.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6750.1. [Q8IYR6-1]
PIRⁱ	G01639.
NCBI Reference Sequences More...RefSeqⁱ	NP_001185741.1. NM_001198812.1. NP_003683.2. NM_003692.4. [Q8IYR6-1]
UniGeneⁱ	Hs.598100.

3D structure databases

ProteinModelPortalⁱ	Q8IYR6.
SMRⁱ	Q8IYR6.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114145. 19 interactors.
IntActⁱ	Q8IYR6. 8 interactors.
STRINGⁱ	9606.ENSP00000364013.

Protein family/group databases

MEROPS protease database More...MEROPSⁱ	I01.974.

MEROPSⁱ

I01.974.

PTM databases

iPTMnetⁱ	Q8IYR6.
PhosphoSitePlusⁱ	Q8IYR6.

Polymorphism and mutation databases

BioMutaⁱ	TMEFF1.
DMDMⁱ	74750770.

Proteomic databases

EPDⁱ	Q8IYR6.
PaxDbⁱ	Q8IYR6.
PeptideAtlas More...PeptideAtlasⁱ	Q8IYR6.
PRIDEⁱ	Q8IYR6.

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	8577.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000374879; ENSP00000364013; ENSG00000241697. [Q8IYR6-1]
GeneIDⁱ	100526694. 8577.
KEGGⁱ	hsa:100526694. hsa:8577.
UCSC genome browser More...UCSCⁱ	uc004baz.3. human. [Q8IYR6-1]

Organism-specific databases

CTDⁱ	100526694. 8577.
DisGeNET More...DisGeNETⁱ	8577.
GeneCardsⁱ	TMEFF1.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11866. TMEFF1.
Human Protein Atlas More...HPAⁱ	HPA051501.
MIMⁱ	603421. gene.
neXtProtⁱ	NX_Q8IYR6.
Open Targets More...OpenTargetsⁱ	ENSG00000241697. ENSG00000251349.
PharmGKBⁱ	PA36567.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IP0E. Eukaryota. ENOG410XQG4. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00730000110884.
HOGENOMⁱ	HOG000154541.
HOVERGENⁱ	HBG053816.
InParanoidⁱ	Q8IYR6.
OMAⁱ	CFVREAS.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AKU.
PhylomeDBⁱ	Q8IYR6.
TreeFamⁱ	TF330868.

Miscellaneous databases

Protein Ontology More...PROⁱ	PR:Q8IYR6.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000241697.
CleanExⁱ	HS_TMEFF1.
Genevisibleⁱ	Q8IYR6. HS.

Family and domain databases

InterProⁱ	View protein in InterPro IPR013032. EGF-like_CS. IPR000742. EGF-like_dom. IPR002350. Kazal_dom.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07648. Kazal_2. 2 hits.
SMARTⁱ	View protein in SMART SM00280. KAZAL. 2 hits.
SUPFAMⁱ	SSF100895. SSF100895. 2 hits.
PROSITEⁱ	View protein in PROSITE PS00022. EGF_1. 1 hit. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 2 hits. PS51465. KAZAL_2. 2 hits.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TEFF1_HUMAN
Accessionⁱ	Q8IYR6Primary (citable) accession number: Q8IYR6 Secondary accession number(s): Q13086, Q8N3T8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
	Last sequence update:	March 1, 2003
	Last modified:	June 7, 2017
	This is version 128 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8IYR6 (TEFF1_HUMAN)

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Tomoregulin-1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ