UniProtKB - Q8IYR6 (TEFF1_HUMAN)
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Protein
Tomoregulin-1
Gene
TMEFF1
Organism
Homo sapiens (Human)
Status
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
Keywordsi
Molecular function | Developmental protein |
Protein family/group databases
MEROPSi | I01.974. |
Names & Taxonomyi
Protein namesi | Recommended name: Tomoregulin-1Short 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000241697.4. |
HGNCi | HGNC:11866. TMEFF1. |
MIMi | 603421. gene. |
neXtProti | NX_Q8IYR6. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 40 – 330 | ExtracellularSequence analysisAdd BLAST | 291 | |
Transmembranei | 331 – 351 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 352 – 380 | CytoplasmicSequence analysisAdd BLAST | 29 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 8577. |
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 | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 275 ↔ 288 | By similarity | ||
Disulfide bondi | 283 ↔ 299 | By similarity | ||
Disulfide bondi | 301 ↔ 310 | By similarity |
Keywords - PTMi
Disulfide bondProteomic databases
EPDi | Q8IYR6. |
PaxDbi | Q8IYR6. |
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
HPAi | HPA051501. |
Interactioni
Subunit structurei
May interact with ST14.
Protein-protein interaction databases
BioGridi | 114145. 20 interactors. |
IntActi | Q8IYR6. 8 interactors. |
MINTi | Q8IYR6. |
STRINGi | 9606.ENSP00000364013. |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | 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 helixPhylogenomic databases
eggNOGi | ENOG410IP0E. Eukaryota. ENOG410XQG4. LUCA. |
GeneTreei | ENSGT00730000110884. |
HOGENOMi | HOG000154541. |
HOVERGENi | HBG053816. |
InParanoidi | Q8IYR6. |
OMAi | CFVREAS. |
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. IPR036058. Kazal_dom_sf. |
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. |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8IYR6-1) [UniParc]FASTAAdd 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.
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
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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. |
CCDSi | CCDS6750.1. [Q8IYR6-1] |
PIRi | G01639. |
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. |
UCSCi | uc004baz.3. human. [Q8IYR6-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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: | February 28, 2018 | |
This is version 132 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. |