Human Gene RAB11FIP4 (uc002hgn.1)
  Description: Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.
RefSeq Summary (NM_032932): The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016].
Transcript (Including UTRs)
   Position: hg19 chr17:29,718,642-29,865,232 Size: 146,591 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr17:29,718,871-29,858,750 Size: 139,880 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:29,718,642-29,865,232)mRNA (may differ from genome)Protein (637 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RFIP4_HUMAN
DESCRIPTION: RecName: Full=Rab11 family-interacting protein 4; Short=FIP4-Rab11; Short=Rab11-FIP4; AltName: Full=Arfophilin-2;
FUNCTION: Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6.
SUBUNIT: Homodimer. Forms a complex with Rab11 (RAB11A or RAB11B) and ARF6. Interacts with RAB11A; the interaction is direct. Forms a heterooligomeric complex with RAB11FIP2, RAB11FIP3 and RAB11FIP5. Interacts with HCMV (human cytomegalovirus) gM/UL100. Interacts with ECM29.
SUBCELLULAR LOCATION: Recycling endosome membrane; Peripheral membrane protein. Cleavage furrow. Midbody. Cytoplasmic vesicle. Note=Recruited to the cleavage furrow and the midbody during cytokinesis.
TISSUE SPECIFICITY: Present at high level in testis (at protein level). Weakly expressed in other tissues.
DOMAIN: The RBD-FIP domain mediates the interaction with Rab11 (RAB11A or RAB11B) (By similarity).
SIMILARITY: Contains 1 EF-hand domain.
SIMILARITY: Contains 1 FIP-RBD domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RAB11FIP4
CDC HuGE Published Literature: RAB11FIP4
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Cholesterol, HDL , Creatinine , Fibrinogen , Glomerular Filtration Rate , Hypertension , Waist Circumference
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    , , . [PubMed 0]
  2. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Creatinine
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
           more ... click here to view the complete list

-  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: 26.87 RPKM in Brain - Cortex
Total median expression: 358.33 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 -129.94229-0.567 Picture PostScript Text
3' UTR -2696.776482-0.416 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
IPR011992 - EF-hand-like_dom
IPR018249 - EF_HAND_2
IPR019018 - Rab-bd_FIP-RBD

Pfam Domains:
PF09457 - FIP domain
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q86YS3
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0030306 ADP-ribosylation factor binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0003407 neural retina development
GO:0016032 viral process
GO:0032465 regulation of cytokinesis
GO:1903452 positive regulation of G1 to G0 transition

Cellular Component:
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0030139 endocytic vesicle
GO:0030496 midbody
GO:0031410 cytoplasmic vesicle
GO:0032154 cleavage furrow
GO:0048471 perinuclear region of cytoplasm
GO:0055038 recycling endosome membrane


-  Descriptions from all associated GenBank mRNAs
  AY169244 - Homo sapiens rab11-family interacting protein 4 mRNA, complete cds.
LF209220 - JP 2014500723-A/16723: Polycomb-Associated Non-Coding RNAs.
BC093914 - Homo sapiens RAB11 family interacting protein 4 (class II), mRNA (cDNA clone MGC:120949 IMAGE:7939759), complete cds.
BC101517 - Homo sapiens RAB11 family interacting protein 4 (class II), mRNA (cDNA clone MGC:126566 IMAGE:8069023), complete cds.
KJ899794 - Synthetic construct Homo sapiens clone ccsbBroadEn_09188 RAB11FIP4 gene, encodes complete protein.
AB058724 - Homo sapiens mRNA for KIAA1821 protein, partial cds.
AJ314646 - Homo sapiens partial mRNA for hypothetical protein and STS WI-9521.
MA444797 - JP 2018138019-A/16723: Polycomb-Associated Non-Coding RNAs.
JD402301 - Sequence 383325 from Patent EP1572962.
JD127082 - Sequence 108106 from Patent EP1572962.
LF212414 - JP 2014500723-A/19917: Polycomb-Associated Non-Coding RNAs.
JD462680 - Sequence 443704 from Patent EP1572962.
JD407388 - Sequence 388412 from Patent EP1572962.
JD217376 - Sequence 198400 from Patent EP1572962.
MA447991 - JP 2018138019-A/19917: Polycomb-Associated Non-Coding RNAs.
AK097424 - Homo sapiens cDNA FLJ40105 fis, clone TESTI2006383.
AK074060 - Homo sapiens mRNA for FLJ00131 protein.
AK074341 - Homo sapiens cDNA FLJ23761 fis, clone HEP18232.
AL831830 - Homo sapiens mRNA; cDNA DKFZp547F1714 (from clone DKFZp547F1714).
LF326922 - JP 2014500723-A/134425: Polycomb-Associated Non-Coding RNAs.
LF326924 - JP 2014500723-A/134427: Polycomb-Associated Non-Coding RNAs.
LF326925 - JP 2014500723-A/134428: Polycomb-Associated Non-Coding RNAs.
JD254163 - Sequence 235187 from Patent EP1572962.
JD181120 - Sequence 162144 from Patent EP1572962.
JD454598 - Sequence 435622 from Patent EP1572962.
LF326926 - JP 2014500723-A/134429: Polycomb-Associated Non-Coding RNAs.
JD191778 - Sequence 172802 from Patent EP1572962.
JD048801 - Sequence 29825 from Patent EP1572962.
JD205378 - Sequence 186402 from Patent EP1572962.
LF326927 - JP 2014500723-A/134430: Polycomb-Associated Non-Coding RNAs.
JD403703 - Sequence 384727 from Patent EP1572962.
JD286959 - Sequence 267983 from Patent EP1572962.
JD377001 - Sequence 358025 from Patent EP1572962.
JD142171 - Sequence 123195 from Patent EP1572962.
JD153448 - Sequence 134472 from Patent EP1572962.
JD162261 - Sequence 143285 from Patent EP1572962.
JD349044 - Sequence 330068 from Patent EP1572962.
JD501914 - Sequence 482938 from Patent EP1572962.
JD300976 - Sequence 282000 from Patent EP1572962.
JD252804 - Sequence 233828 from Patent EP1572962.
JD422888 - Sequence 403912 from Patent EP1572962.
JD422889 - Sequence 403913 from Patent EP1572962.
JD537175 - Sequence 518199 from Patent EP1572962.
JD416834 - Sequence 397858 from Patent EP1572962.
JD494408 - Sequence 475432 from Patent EP1572962.
JD288630 - Sequence 269654 from Patent EP1572962.
JD516522 - Sequence 497546 from Patent EP1572962.
JD355468 - Sequence 336492 from Patent EP1572962.
JD453051 - Sequence 434075 from Patent EP1572962.
JD039547 - Sequence 20571 from Patent EP1572962.
JD289894 - Sequence 270918 from Patent EP1572962.
JD368103 - Sequence 349127 from Patent EP1572962.
JD163422 - Sequence 144446 from Patent EP1572962.
AK055019 - Homo sapiens cDNA FLJ30457 fis, clone BRACE2009366.
JD163633 - Sequence 144657 from Patent EP1572962.
JD389556 - Sequence 370580 from Patent EP1572962.
JD390860 - Sequence 371884 from Patent EP1572962.
JD528634 - Sequence 509658 from Patent EP1572962.
JD363717 - Sequence 344741 from Patent EP1572962.
JD375654 - Sequence 356678 from Patent EP1572962.
JD165614 - Sequence 146638 from Patent EP1572962.
JD232849 - Sequence 213873 from Patent EP1572962.
LF326928 - JP 2014500723-A/134431: Polycomb-Associated Non-Coding RNAs.
JD439958 - Sequence 420982 from Patent EP1572962.
BC023618 - Homo sapiens RAB11 family interacting protein 4 (class II), mRNA (cDNA clone IMAGE:4652315), partial cds.
JD235670 - Sequence 216694 from Patent EP1572962.
LF326929 - JP 2014500723-A/134432: Polycomb-Associated Non-Coding RNAs.
JD294474 - Sequence 275498 from Patent EP1572962.
LF326930 - JP 2014500723-A/134433: Polycomb-Associated Non-Coding RNAs.
JD172407 - Sequence 153431 from Patent EP1572962.
JD287668 - Sequence 268692 from Patent EP1572962.
JD535173 - Sequence 516197 from Patent EP1572962.
BC004515 - Homo sapiens RAB11 family interacting protein 4 (class II), mRNA (cDNA clone IMAGE:3929435), partial cds.
JD436695 - Sequence 417719 from Patent EP1572962.
JD544137 - Sequence 525161 from Patent EP1572962.
JD485690 - Sequence 466714 from Patent EP1572962.
JD213978 - Sequence 195002 from Patent EP1572962.
JD371437 - Sequence 352461 from Patent EP1572962.
JD371438 - Sequence 352462 from Patent EP1572962.
JD403463 - Sequence 384487 from Patent EP1572962.
JD069530 - Sequence 50554 from Patent EP1572962.
JD293424 - Sequence 274448 from Patent EP1572962.
JD119416 - Sequence 100440 from Patent EP1572962.
JD273883 - Sequence 254907 from Patent EP1572962.
JD197915 - Sequence 178939 from Patent EP1572962.
JD119173 - Sequence 100197 from Patent EP1572962.
JD070904 - Sequence 51928 from Patent EP1572962.
JD106859 - Sequence 87883 from Patent EP1572962.
JD177675 - Sequence 158699 from Patent EP1572962.
HZ043039 - JP 2015510401-A/129: MESENCHYMAL STEM CELLS FOR IN VITRO MODELING AND CELL-BASED THERAPY OF HUMAN DISEASES AND BANKS THEREOF.
HZ081665 - JP 2015514392-A/129: MicroRNAS FOR THE GENERATION OF ASTROCYTES.
HZ409528 - JP 2015528002-A/2125: CHIRAL CONTROL.
LF404136 - JP 2015509366-A/129: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
LG052862 - KR 1020150036642-A/2128: CHIRAL CONTROL.
MA353667 - JP 2018075017-A/129: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
FR773006 - Homo sapiens microRNA hsa-miR-4724-5p.
HZ481882 - JP 2015535430-A/2388: TERMINALLY MODIFIED RNA.
HZ791813 - JP 2016504050-A/3558: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC514545 - Sequence 4798 from Patent WO2014113089.
LF161719 - JP 2016513950-A/1785: Oligomers with improved off-target profile.
LQ072133 - Sequence 2457 from Patent EP2964234.
FR773005 - Homo sapiens microRNA hsa-miR-4724-3p.
HZ042964 - JP 2015510401-A/54: MESENCHYMAL STEM CELLS FOR IN VITRO MODELING AND CELL-BASED THERAPY OF HUMAN DISEASES AND BANKS THEREOF.
HZ081590 - JP 2015514392-A/54: MicroRNAS FOR THE GENERATION OF ASTROCYTES.
HZ481881 - JP 2015535430-A/2387: TERMINALLY MODIFIED RNA.
HZ791812 - JP 2016504050-A/3557: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC514544 - Sequence 4797 from Patent WO2014113089.
LF160628 - JP 2016513950-A/694: Oligomers with improved off-target profile.
LF404061 - JP 2015509366-A/54: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
LQ072132 - Sequence 2456 from Patent EP2964234.
MA353592 - JP 2018075017-A/54: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
JD531086 - Sequence 512110 from Patent EP1572962.
JD321415 - Sequence 302439 from Patent EP1572962.
JD413440 - Sequence 394464 from Patent EP1572962.
JD247010 - Sequence 228034 from Patent EP1572962.
JD145774 - Sequence 126798 from Patent EP1572962.
JD431147 - Sequence 412171 from Patent EP1572962.
JD291466 - Sequence 272490 from Patent EP1572962.
JD226935 - Sequence 207959 from Patent EP1572962.
JD520886 - Sequence 501910 from Patent EP1572962.
JD117137 - Sequence 98161 from Patent EP1572962.
JD425324 - Sequence 406348 from Patent EP1572962.
AL359563 - Homo sapiens mRNA; cDNA DKFZp761C0747 (from clone DKFZp761C0747).
LF326931 - JP 2014500723-A/134434: Polycomb-Associated Non-Coding RNAs.
BC047674 - Homo sapiens RAB11 family interacting protein 4 (class II), mRNA (cDNA clone IMAGE:6050464).
LF326932 - JP 2014500723-A/134435: Polycomb-Associated Non-Coding RNAs.
BC094803 - Homo sapiens cDNA clone IMAGE:3957550.
BC006240 - Homo sapiens RAB11 family interacting protein 4 (class II), mRNA (cDNA clone IMAGE:3951532).
JD270428 - Sequence 251452 from Patent EP1572962.
MA645634 - JP 2017113010-A/3558: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733518 - JP 2017140048-A/2388: TERMINALLY MODIFIED RNA.
MA645633 - JP 2017113010-A/3557: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733517 - JP 2017140048-A/2387: TERMINALLY MODIFIED RNA.
MA562499 - JP 2018138019-A/134425: Polycomb-Associated Non-Coding RNAs.
MA562501 - JP 2018138019-A/134427: Polycomb-Associated Non-Coding RNAs.
MA562502 - JP 2018138019-A/134428: Polycomb-Associated Non-Coding RNAs.
MA562503 - JP 2018138019-A/134429: Polycomb-Associated Non-Coding RNAs.
MA562504 - JP 2018138019-A/134430: Polycomb-Associated Non-Coding RNAs.
MA562505 - JP 2018138019-A/134431: Polycomb-Associated Non-Coding RNAs.
MA562506 - JP 2018138019-A/134432: Polycomb-Associated Non-Coding RNAs.
MA562507 - JP 2018138019-A/134433: Polycomb-Associated Non-Coding RNAs.
MA562508 - JP 2018138019-A/134434: Polycomb-Associated Non-Coding RNAs.
MA562509 - JP 2018138019-A/134435: Polycomb-Associated Non-Coding RNAs.
MP045307 - Sequence 129 from Patent EP3401394.
MP083977 - Sequence 129 from Patent EP3401393.
MP015337 - Sequence 540 from Patent WO2019016252.
MP045232 - Sequence 54 from Patent EP3401394.
MP083902 - Sequence 54 from Patent EP3401393.
MA802687 - JP 2018183181-A/3558: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA802686 - JP 2018183181-A/3557: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

-  Other Names for This Gene
  Alternate Gene Symbols: ARFO2, KIAA1821, NM_032932, NP_116321, Q52LI1, Q86YS3, Q8N829, Q8NDT7, Q969D8, RFIP4_HUMAN
UCSC ID: uc002hgn.1
RefSeq Accession: NM_032932
Protein: Q86YS3 (aka RFIP4_HUMAN)
CCDS: CCDS11267.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032932.3
exon count: 15CDS single in 3' UTR: no RNA size: 8665
ORF size: 1914CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3818.00frame shift in genome: no % Coverage: 99.54
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.