Q5VW36 (FOCAD_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 75.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Focadhesin | ||||
| 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 | 1801 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Potential tumor suppressor in gliomas By similarity. Ref.10 |
| Subunit structure | Interacts with VCL. Ref.10 |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. Cell junction › focal adhesion. Note: Colocalizes with VCL in astrocytes. |
| Tissue specificity | Ubiquitous. High expression in brain followed by testis, muscle, pancreas, heart, ovary, small intestine, placenta, prostate, thymus, kidney, colon, liver, lung, spleen and leukocytes. Expression is reduced in most glioblastomas and all glioblastoma cell lines. Ref.7 Ref.10 |
| Sequence caution | The sequence BAA91129.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA91129.1 differs from that shown. Reason: Frameshift at position 261. The sequence BAD18787.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Acetylation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | focal adhesion Inferred from direct assay Ref.10. Source: UniProtKB integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1801 | 1801 | Focadhesin | PRO_0000314457 | |||||
Regions | |||||||||
| Transmembrane | 404 – 424 | 21 | Helical; Potential | ||||||
| Transmembrane | 441 – 461 | 21 | Helical; Potential | ||||||
| Transmembrane | 1036 – 1056 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 819 | 1 | N6-acetyllysine Ref.8 | ||||||
Natural variations | |||||||||
| Natural variant | 166 | 1 | L → S. Corresponds to variant rs10511687 [ dbSNP | Ensembl ]. | VAR_037877 | |||||
| Natural variant | 234 | 1 | V → I. Corresponds to variant rs10441706 [ dbSNP | Ensembl ]. | VAR_037878 | |||||
| Natural variant | 523 | 1 | I → V. Corresponds to variant rs17832431 [ dbSNP | Ensembl ]. | VAR_037879 | |||||
| Natural variant | 718 | 1 | T → S. Ref.1 Ref.3 Ref.4 Ref.5 Corresponds to variant rs7875872 [ dbSNP | Ensembl ]. | VAR_037880 | |||||
| Natural variant | 721 | 1 | E → K. Corresponds to variant rs10964742 [ dbSNP | Ensembl ]. | VAR_049528 | |||||
| Natural variant | 1373 | 1 | T → A. Ref.4 Corresponds to variant rs3206852 [ dbSNP | Ensembl ]. | VAR_061251 | |||||
| Natural variant | 1373 | 1 | T → P. Corresponds to variant rs3206852 [ dbSNP | Ensembl ]. | VAR_037881 | |||||
| Natural variant | 1373 | 1 | T → S. Corresponds to variant rs3206852 [ dbSNP | Ensembl ]. | VAR_061252 | |||||
| Natural variant | 1668 | 1 | K → E. Ref.1 Ref.4 Ref.5 Ref.6 Corresponds to variant rs4977881 [ dbSNP | Ensembl ]. | VAR_037882 | |||||
Experimental info | |||||||||
| Sequence conflict | 481 | 1 | A → V in AAN17740. Ref.1 | ||||||
| Sequence conflict | 481 | 1 | A → V in BAB71203. Ref.4 | ||||||
| Sequence conflict | 1430 | 1 | E → D in AAH01246. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | Guo J.H., Chen L., Yu L. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-718 AND GLU-1668. Tissue: Brain. |
| [2] | "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]. |
| [3] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-718. |
| [4] | "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] OF 1-915 AND 1305-1801, VARIANTS SER-718; ALA-1373 AND GLU-1668. Tissue: Endothelial cell, Hepatoma and Teratocarcinoma. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 521-1801, VARIANTS SER-718 AND GLU-1668. Tissue: Brain. |
| [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] OF 1300-1801, VARIANT GLU-1668. Tissue: Choriocarcinoma. |
| [7] | "L1 antisense promoter drives tissue-specific transcription of human genes." Matlik K., Redik K., Speek M. J. Biomed. Biotechnol. 2006:71753-71753(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [8] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-819, MASS SPECTROMETRY. |
| [9] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [10] | "KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas." Brockschmidt A., Trost D., Peterziel H., Zimmermann K., Ehrler M., Grassmann H., Pfenning P.N., Waha A., Wohlleber D., Brockschmidt F.F., Jugold M., Hoischen A., Kalla C., Waha A., Seifert G., Knolle P.A., Latz E., Hans V.H. Weber R.G.Brain 135:1027-1041(2012) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INTERACTION WITH VCL, FUNCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY139834 mRNA. Translation: AAN17740.1. AL392163, AL445624, AL662879 Genomic DNA. Translation: CAH73851.1. AK000382 mRNA. Translation: BAA91129.1. Frameshift. AK056522 mRNA. Translation: BAB71203.1. AK172818 mRNA. Translation: BAD18787.1. Different initiation. AB058700 mRNA. Translation: BAB47426.1. CH471071 Genomic DNA. Translation: EAW58627.1. CH471071 Genomic DNA. Translation: EAW58628.1. CH471071 Genomic DNA. Translation: EAW58629.1. BC001246 mRNA. Translation: AAH01246.2. |
| IPI | IPI00748360. |
| RefSeq | NP_060264.3. NM_017794.3. |
| UniGene | Hs.136247. |
3D structure databases | |
| ProteinModelPortal | Q5VW36. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q5VW36. |
Polymorphism databases | |
| DMDM | 74747342. |
Proteomic databases | |
| PaxDb | Q5VW36. |
| PRIDE | Q5VW36. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000338382; ENSP00000344307; ENSG00000188352. ENST00000380249; ENSP00000369599; ENSG00000188352. |
| GeneID | 54914. |
| KEGG | hsa:54914. |
| UCSC | uc003zog.1. human. |
Organism-specific databases | |
| CTD | 54914. |
| GeneCards | GC09P020659. |
| HGNC | HGNC:23377. FOCAD. |
| HPA | HPA055015. |
| MIM | 614606. gene. |
| neXtProt | NX_Q5VW36. |
| PharmGKB | PA134934777. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG27815. |
| HOVERGEN | HBG095600. |
| InParanoid | Q5VW36. |
| OMA | SCDTRPL. |
| OrthoDB | EOG4WWRHQ. |
Gene expression databases | |
| Bgee | Q5VW36. |
| CleanEx | HS_KIAA1797. |
| Genevestigator | Q5VW36. |
Family and domain databases | |
| InterPro | IPR016024. ARM-type_fold. IPR021392. DUF3028. IPR022542. DUF3730. [Graphical view] |
| Pfam | PF11229. DUF3028. 1 hit. PF12530. DUF3730. 2 hits. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 54914. |
| NextBio | 57970. |
| SOURCE | Search... |
Entry information
| Entry name | FOCAD_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5VW36 Secondary accession number(s): D3DRJ9 Q9NX87 | ||||||||
| 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 |

Clusters with
