A2A2Y4 (FRMD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 63.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: FERM domain-containing protein 3 Alternative name(s): Band 4.1-like protein 4O Ovary type protein 4.1 Short name=4.1O | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 597 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer. Ref.8 |
| Subcellular location | Membrane; Single-pass membrane protein Potential. |
| Tissue specificity | Ovary-specific. Ref.1 |
| Developmental stage | Expressed in skeletal muscle, lower levels in thymus and brain. Ref.1 |
| Sequence similarities | Contains 1 FERM domain. |
| Sequence caution | The sequence BAC04321.1 differs from that shown. Reason: Erroneous initiation. The sequence EAW62650.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: InterPro cytoskeletonInferred from electronic annotation. Source: InterPro extrinsic to membraneInferred from electronic annotation. Source: InterPro integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: A2A2Y4-1) 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. | ||||||
| Isoform 2 (identifier: A2A2Y4-2) The sequence of this isoform differs from the canonical sequence as follows: 553-597: GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS → VSMQ | ||||||
| Isoform 3 (identifier: A2A2Y4-3) The sequence of this isoform differs from the canonical sequence as follows: 1-194: Missing. 195-198: KNEL → MVFR 553-597: GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS → VSMQ | ||||||
| Isoform 4 (identifier: A2A2Y4-4) The sequence of this isoform differs from the canonical sequence as follows: 1-344: Missing. 345-398: SSKIQREPPE...EQEEELPLGE → MQAEETKGIG...LGSKVTARNT 553-597: GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS → VSMQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: A2A2Y4-5) The sequence of this isoform differs from the canonical sequence as follows: 1-49: MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQ → MQLSK |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 597 | 597 | FERM domain-containing protein 3 | PRO_0000318098 | |||||
Regions | |||||||||
| Transmembrane | 531 – 551 | 21 | Helical; Potential | ||||||
| Domain | 32 – 312 | 281 | FERM | ||||||
Amino acid modifications | |||||||||
| Modified residue | 415 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 344 | 344 | Missing in isoform 4. | VSP_031162 | |||||
| Alternative sequence | 1 – 194 | 194 | Missing in isoform 3. | VSP_031163 | |||||
| Alternative sequence | 1 – 49 | 49 | MFASC…SCHIQ → MQLSK in isoform 5. | VSP_031164 | |||||
| Alternative sequence | 195 – 198 | 4 | KNEL → MVFR in isoform 3. | VSP_031165 | |||||
| Alternative sequence | 345 – 398 | 54 | SSKIQ…LPLGE → MQAEETKGIGITSMAKCLVK IQTRRSLQLHMVNHCNSNVF VRLLRLGSKVTARNT in isoform 4. | VSP_031166 | |||||
| Alternative sequence | 553 – 597 | 45 | GIDLS…MLGCS → VSMQ in isoform 2, isoform 3 and isoform 4. | VSP_031167 | |||||
| Natural variant | 485 | 1 | D → Y. Corresponds to variant rs4877747 [ dbSNP | Ensembl ]. | VAR_048366 | |||||
Experimental info | |||||||||
| Sequence conflict | 248 | 1 | Q → R in AAN52119. Ref.1 | ||||||
| Sequence conflict | 554 | 1 | I → V in AAN52119. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary." Ni X., Ji C., Cao G., Cheng H., Guo L., Gu S., Ying K., Zhao R.C., Mao Y. J. Hum. Genet. 48:101-106(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. Tissue: Fetal brain. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-597 (ISOFORM 2). Tissue: Cerebellum. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4). Tissue: Brain and Placenta. |
| [7] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 17-597 (ISOFORM 1). Tissue: Kidney. |
| [8] | "FRMD3, a novel putative tumour suppressor in NSCLC." Haase D., Meister M., Muley T., Hess J., Teurich S., Schnabel P., Hartenstein B., Angel P. Oncogene 26:4464-4468(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY137774 mRNA. Translation: AAN52119.1. AK094281 mRNA. Translation: BAC04321.1. Different initiation. AK297722 mRNA. Translation: BAG60076.1. EF560742 mRNA. Translation: ABQ59052.1. AL161786, AL137847 Genomic DNA. Translation: CAH72749.1. AL161786, AL137847, AL450026 Genomic DNA. Translation: CAH72750.2. AL137847, AL161786 Genomic DNA. Translation: CAI40734.1. AL137847, AL161786, AL450026 Genomic DNA. Translation: CAI40735.2. AL137847 Genomic DNA. Translation: CAI40736.1. AL161786, AL137847, AL450026 Genomic DNA. Translation: CAM17460.1. AL450026, AL137847, AL161786 Genomic DNA. Translation: CAM19643.1. AL450026, AL137847, AL161786 Genomic DNA. Translation: CAM19644.1. AL137847, AL161786, AL450026 Genomic DNA. Translation: CAM19673.1. CH471089 Genomic DNA. Translation: EAW62647.1. CH471089 Genomic DNA. Translation: EAW62649.1. CH471089 Genomic DNA. Translation: EAW62650.1. Different initiation. CH471089 Genomic DNA. Translation: EAW62651.1. BC023560 mRNA. Translation: AAH23560.1. BC037253 mRNA. Translation: AAH37253.1. AK223597 mRNA. Translation: BAD97317.1. |
| IPI | IPI00184358. IPI00217088. IPI00642471. IPI00657701. IPI00885145. |
| RefSeq | NP_001231888.1. NM_001244959.1. NP_001231889.1. NM_001244960.1. NP_001231890.1. NM_001244961.1. NP_001231891.1. NM_001244962.1. NP_777598.3. NM_174938.5. |
| UniGene | Hs.127535. Hs.743606. |
3D structure databases | |
| ProteinModelPortal | A2A2Y4. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | A2A2Y4. |
Proteomic databases | |
| PaxDb | A2A2Y4. |
| PRIDE | A2A2Y4. |
Protocols and materials databases | |
| DNASU | 257019. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000304195; ENSP00000303508; ENSG00000172159. ENST00000328788; ENSP00000328615; ENSG00000172159. ENST00000376434; ENSP00000365617; ENSG00000172159. ENST00000376438; ENSP00000365621; ENSG00000172159. |
| GeneID | 257019. |
| KEGG | hsa:257019. |
| UCSC | uc004amq.1. human. uc004amr.1. human. uc004ams.2. human. uc022biz.1. human. uc022bja.1. human. |
Organism-specific databases | |
| CTD | 257019. |
| GeneCards | GC09M085857. |
| H-InvDB | HIX0023043. |
| HGNC | HGNC:24125. FRMD3. |
| MIM | 607619. gene. |
| neXtProt | NX_A2A2Y4. |
| PharmGKB | PA134903920. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG331698. |
| HOVERGEN | HBG057180. |
| InParanoid | A2A2Y4. |
| OMA | FLCEIRQ. |
Gene expression databases | |
| ArrayExpress | A2A2Y4. |
| Bgee | A2A2Y4. |
| Genevestigator | A2A2Y4. |
Family and domain databases | |
| Gene3D | 1.20.80.10. 1 hit. 2.30.29.30. 1 hit. |
| InterPro | IPR019749. Band_41_domain. IPR019750. Band_41_fam. IPR000798. Ez/rad/moesin_like. IPR014847. FERM-adjacent. IPR014352. FERM/acyl-CoA-bd_prot_3-hlx. IPR019748. FERM_central. IPR019747. FERM_CS. IPR000299. FERM_domain. IPR018979. FERM_N. IPR018980. FERM_PH-like_C. IPR011993. PH_like_dom. [Graphical view] |
| Pfam | PF08736. FA. 1 hit. PF09380. FERM_C. 1 hit. PF00373. FERM_M. 1 hit. PF09379. FERM_N. 1 hit. [Graphical view] |
| PRINTS | PR00935. BAND41. PR00661. ERMFAMILY. |
| SMART | SM00295. B41. 1 hit. [Graphical view] |
| SUPFAM | SSF47031. FERM_3-hlx. 1 hit. |
| PROSITE | PS00660. FERM_1. 1 hit. PS00661. FERM_2. False negative. PS50057. FERM_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 257019. |
| NextBio | 92903. |
| SOURCE | Search... |
Entry information
| Entry name | FRMD3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: A2A2Y4 Secondary accession number(s): A8MQB0 Q8N9L2 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant 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 |

Clusters with
