Human Gene FNBP1 (uc004bza.2) Description and Page Index
  Description: Homo sapiens formin binding protein 1 (FNBP1), mRNA.
RefSeq Summary (NM_015033): The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB011126.1, AF265550.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000446176.7/ ENSP00000413625.1 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr9:132,649,466-132,805,473 Size: 156,008 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr9:132,652,818-132,805,254 Size: 152,437 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:132,649,466-132,805,473)mRNA (may differ from genome)Protein (551 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B7ZL14_HUMAN
DESCRIPTION: SubName: Full=FNBP1 protein;
SIMILARITY: Contains 1 SH3 domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FNBP1
CDC HuGE Published Literature: FNBP1

-  MalaCards Disease Associations
  MalaCards Gene Search: FNBP1
Diseases sorted by gene-association score: familial hypocalciuric hypercalcemia (7), persistent hyperplastic primary vitreous (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 151.79 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1235.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -115.00219-0.525 Picture PostScript Text
3' UTR -1191.083352-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001060 - FCH
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00611 - Fes/CIP4, and EFC/F-BAR homology domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on B7ZL14
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
 Protein Sequence  Protein Sequence 
 Alignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006897 endocytosis


-  Descriptions from all associated GenBank mRNAs
  AB011126 - Homo sapiens KIAA0554 mRNA for KIAA0554 protein.
BC101755 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:126804 IMAGE:8069261), complete cds.
BC143513 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:177039 IMAGE:9052022), complete cds.
BC143515 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:177041 IMAGE:9052024), complete cds.
BC143514 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:177040 IMAGE:9052023), complete cds.
AK023681 - Homo sapiens cDNA FLJ13619 fis, clone PLACE1010926, weakly similar to HYPOTHETICAL 72.2 KD PROTEIN C12C2.05C IN CHROMOSOME II.
AB383906 - Synthetic construct DNA, clone: pF1KSDA0554, Homo sapiens FNBP1 gene for formin-binding protein 1, complete cds, without stop codon, in Flexi system.
AF265550 - Homo sapiens formin-binding protein 17 (FBP17) mRNA, partial cds.
BC062463 - Homo sapiens formin binding protein 1, mRNA (cDNA clone IMAGE:6527319), partial cds.
BC018159 - Homo sapiens, clone IMAGE:3861911, mRNA.
AY952886 - Homo sapiens antigen MMSA-5 mRNA sequence.
BC009262 - Homo sapiens formin binding protein 1, mRNA (cDNA clone IMAGE:3928577), partial cds.
AL049935 - Homo sapiens mRNA; cDNA DKFZp564O1116 (from clone DKFZp564O1116).
AK090963 - Homo sapiens cDNA FLJ33644 fis, clone BRAMY2023852.
JD528556 - Sequence 509580 from Patent EP1572962.
JD250312 - Sequence 231336 from Patent EP1572962.
JD396474 - Sequence 377498 from Patent EP1572962.
JD074468 - Sequence 55492 from Patent EP1572962.
JD036640 - Sequence 17664 from Patent EP1572962.
JD521842 - Sequence 502866 from Patent EP1572962.
JD263607 - Sequence 244631 from Patent EP1572962.
JD087957 - Sequence 68981 from Patent EP1572962.
JD415929 - Sequence 396953 from Patent EP1572962.
JD162067 - Sequence 143091 from Patent EP1572962.
JD114078 - Sequence 95102 from Patent EP1572962.
JD104911 - Sequence 85935 from Patent EP1572962.
JD038646 - Sequence 19670 from Patent EP1572962.
JD433960 - Sequence 414984 from Patent EP1572962.
JD305665 - Sequence 286689 from Patent EP1572962.
JD327820 - Sequence 308844 from Patent EP1572962.
JD418297 - Sequence 399321 from Patent EP1572962.
JD086836 - Sequence 67860 from Patent EP1572962.
JD482236 - Sequence 463260 from Patent EP1572962.
JD496222 - Sequence 477246 from Patent EP1572962.
JD111137 - Sequence 92161 from Patent EP1572962.
JD234338 - Sequence 215362 from Patent EP1572962.
JD336992 - Sequence 318016 from Patent EP1572962.
JD179619 - Sequence 160643 from Patent EP1572962.
JD215263 - Sequence 196287 from Patent EP1572962.
JD231733 - Sequence 212757 from Patent EP1572962.
JD343694 - Sequence 324718 from Patent EP1572962.
JD054057 - Sequence 35081 from Patent EP1572962.
JD311739 - Sequence 292763 from Patent EP1572962.
JD364357 - Sequence 345381 from Patent EP1572962.
JD415089 - Sequence 396113 from Patent EP1572962.
JD069818 - Sequence 50842 from Patent EP1572962.
JD379847 - Sequence 360871 from Patent EP1572962.
JD513996 - Sequence 495020 from Patent EP1572962.
JD151009 - Sequence 132033 from Patent EP1572962.
JD321757 - Sequence 302781 from Patent EP1572962.
JD198216 - Sequence 179240 from Patent EP1572962.
JD147339 - Sequence 128363 from Patent EP1572962.
JD418054 - Sequence 399078 from Patent EP1572962.
JD465158 - Sequence 446182 from Patent EP1572962.
JD418053 - Sequence 399077 from Patent EP1572962.
JD524250 - Sequence 505274 from Patent EP1572962.
JD566851 - Sequence 547875 from Patent EP1572962.
JD266163 - Sequence 247187 from Patent EP1572962.
JD418631 - Sequence 399655 from Patent EP1572962.
JD336348 - Sequence 317372 from Patent EP1572962.
JD122004 - Sequence 103028 from Patent EP1572962.
JD227456 - Sequence 208480 from Patent EP1572962.
JD311283 - Sequence 292307 from Patent EP1572962.
JD251238 - Sequence 232262 from Patent EP1572962.
JD526732 - Sequence 507756 from Patent EP1572962.
JD205605 - Sequence 186629 from Patent EP1572962.
JD101337 - Sequence 82361 from Patent EP1572962.
JD090069 - Sequence 71093 from Patent EP1572962.
JD141063 - Sequence 122087 from Patent EP1572962.
JD057243 - Sequence 38267 from Patent EP1572962.
JD423686 - Sequence 404710 from Patent EP1572962.
JD059305 - Sequence 40329 from Patent EP1572962.
JD115880 - Sequence 96904 from Patent EP1572962.
JD462522 - Sequence 443546 from Patent EP1572962.
JD378377 - Sequence 359401 from Patent EP1572962.
AK293743 - Homo sapiens cDNA FLJ59670 complete cds, highly similar to Homo sapiens formin binding protein 1 (FNBP1), mRNA.
JD390602 - Sequence 371626 from Patent EP1572962.
JD496478 - Sequence 477502 from Patent EP1572962.
JD282538 - Sequence 263562 from Patent EP1572962.
JD520932 - Sequence 501956 from Patent EP1572962.
AK001616 - Homo sapiens cDNA FLJ10754 fis, clone NT2RP3004544, highly similar to Homo sapiens mRNA for KIAA0554 protein.
BC094851 - Homo sapiens cDNA clone IMAGE:6278345.
AK000975 - Homo sapiens cDNA FLJ10113 fis, clone HEMBA1002768, weakly similar to Homo sapiens mRNA for Cdc42-interacting protein 4.
JD217394 - Sequence 198418 from Patent EP1572962.
JD309480 - Sequence 290504 from Patent EP1572962.
JD560405 - Sequence 541429 from Patent EP1572962.
JD475532 - Sequence 456556 from Patent EP1572962.
JD352767 - Sequence 333791 from Patent EP1572962.
JD448257 - Sequence 429281 from Patent EP1572962.
JD178091 - Sequence 159115 from Patent EP1572962.
JD458410 - Sequence 439434 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZL14, B7ZL14_HUMAN, BC143515, NM_015033, NP_055848
UCSC ID: uc004bza.2
RefSeq Accession: NM_015033
Protein: B7ZL14

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC143515.1
exon count: 15CDS single in 3' UTR: no RNA size: 1789
ORF size: 1656CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3184.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.