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    RAB11FIP3 RAB11 family interacting protein 3 [ Homo sapiens (human) ]

    Gene ID: 9727, updated on 8-Jul-2019

    Summary

    Official Symbol
    RAB11FIP3provided by HGNC
    Official Full Name
    RAB11 family interacting protein 3provided by HGNC
    Primary source
    HGNC:HGNC:17224
    See related
    Ensembl:ENSG00000090565 MIM:608738
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CART1; FIP3-Rab11; Rab11-FIP3
    Summary
    Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in kidney (RPKM 33.4), brain (RPKM 8.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See RAB11FIP3 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (425621..523011)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (475649..572485)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371036 Neighboring gene NME/NM23 nucleoside diphosphate kinase 4 Neighboring gene 2,4-dienoyl-CoA reductase 2 Neighboring gene long intergenic non-protein coding RNA 235 Neighboring gene calpain 15 Neighboring gene microRNA 5587

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Arf6 downstream pathway, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 downstream pathway, organism-specific biosystem
      Arf6 downstream pathway
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • VxPx cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
      VxPx cargo-targeting to cilium, organism-specific biosystemA number of membrane proteins destined for the ciliary membrane are recognized by ARF4 in the trans-Golgi network, initiating the formation of a ciliary targeting complex that directs the passage of ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0665, PAC196A12.1, MU-MB-17.148

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP-ribosylation factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ADP-ribosylation factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Rab GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rab GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Rab GTPase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    dynein light intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endocytic recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of adiponectin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cleavage furrow IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    microtubule organizing center IDA
    Inferred from Direct Assay
    more info
     
    midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    rab11 family-interacting protein 3
    Names
    EF hands-containing Rab-interacting protein
    MU-MB-17.148
    RAB11 family interacting protein 3 (class II)
    arfophilin-1
    cytoplasmic adaptor for RAR and TR
    eferin
    NP_001357330.1
    NP_055515.1
    XP_005255771.1
    XP_005255772.1
    XP_005255774.1
    XP_005255775.1
    XP_011521066.1
    XP_011521067.1
    XP_016879396.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142272.2NP_001135744.2  rab11 family-interacting protein 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL049542, Z98882
      Consensus CDS
      CCDS45364.1
      Related
      ENSP00000415919.1, ENST00000450428.5
    2. NM_001370401.1NP_001357330.1  rab11 family-interacting protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL023881, AL049542, Z98882
      Related
      ENSP00000399644.1, ENST00000434585.5
    3. NM_014700.4NP_055515.1  rab11 family-interacting protein 3 isoform 1

      See identical proteins and their annotated locations for NP_055515.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL023881, BC051360, Z98882
      Consensus CDS
      CCDS32351.1
      UniProtKB/Swiss-Prot
      O75154
      Related
      ENSP00000262305.4, ENST00000262305.9
      Conserved Domains (8) summary
      COG1842
      Location:459674
      PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
      pfam09457
      Location:716756
      RBD-FIP; FIP domain
      pfam05700
      Location:486589
      BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)
      pfam11262
      Location:540631
      Tho2; Transcription factor/nuclear export subunit protein 2
      pfam13499
      Location:207263
      EF-hand_7; EF-hand domain pair
      pfam15068
      Location:80140
      FAM101; FAM101 family
      pfam16034
      Location:577691
      JAKMIP_CC3; JAKMIP CC3 domain
      cl08302
      Location:206264
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      425621..523011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023907.1XP_016879396.1  rab11 family-interacting protein 3 isoform X2

    2. XM_005255717.3XP_005255774.1  rab11 family-interacting protein 3 isoform X5

      See identical proteins and their annotated locations for XP_005255774.1

      Conserved Domains (3) summary
      cd00051
      Location:206264
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:207263
      EF-hand_7; EF-hand domain pair
      pfam16214
      Location:85220
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    3. XM_005255718.3XP_005255775.1  rab11 family-interacting protein 3 isoform X7

      See identical proteins and their annotated locations for XP_005255775.1

      Conserved Domains (3) summary
      cd00051
      Location:206264
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:207263
      EF-hand_7; EF-hand domain pair
      pfam16214
      Location:85220
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    4. XM_011522765.2XP_011521067.1  rab11 family-interacting protein 3 isoform X6

      See identical proteins and their annotated locations for XP_011521067.1

      Conserved Domains (4) summary
      COG1842
      Location:162377
      PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
      pfam09457
      Location:419459
      RBD-FIP; FIP domain
      pfam05700
      Location:189292
      BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)
      pfam11262
      Location:243334
      Tho2; Transcription factor/nuclear export subunit protein 2
    5. XM_005255715.5XP_005255772.1  rab11 family-interacting protein 3 isoform X4

      See identical proteins and their annotated locations for XP_005255772.1

      UniProtKB/Swiss-Prot
      O75154
      Conserved Domains (4) summary
      COG1842
      Location:194409
      PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
      pfam09457
      Location:451491
      RBD-FIP; FIP domain
      pfam05700
      Location:221324
      BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)
      pfam11262
      Location:275366
      Tho2; Transcription factor/nuclear export subunit protein 2
    6. XM_005255714.1XP_005255771.1  rab11 family-interacting protein 3 isoform X3

      See identical proteins and their annotated locations for XP_005255771.1

      Conserved Domains (5) summary
      COG1842
      Location:208423
      PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
      pfam09457
      Location:465505
      RBD-FIP; FIP domain
      pfam05700
      Location:235338
      BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)
      pfam11262
      Location:289380
      Tho2; Transcription factor/nuclear export subunit protein 2
      pfam16034
      Location:326440
      JAKMIP_CC3; JAKMIP CC3 domain
    7. XM_011522764.2XP_011521066.1  rab11 family-interacting protein 3 isoform X4

      See identical proteins and their annotated locations for XP_011521066.1

      UniProtKB/Swiss-Prot
      O75154
      Conserved Domains (4) summary
      COG1842
      Location:194409
      PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
      pfam09457
      Location:451491
      RBD-FIP; FIP domain
      pfam05700
      Location:221324
      BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)
      pfam11262
      Location:275366
      Tho2; Transcription factor/nuclear export subunit protein 2

    RNA

    1. XR_932981.2 RNA Sequence

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187610.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      24795..125679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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