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    RIPOR1 RHO family interacting cell polarization regulator 1 [ Homo sapiens (human) ]

    Gene ID: 79567, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RIPOR1provided by HGNC
    Official Full Name
    RHO family interacting cell polarization regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:25836
    See related
    Ensembl:ENSG00000039523 MIM:619842; AllianceGenome:HGNC:25836
    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
    FAM65A
    Summary
    Enables 14-3-3 protein binding activity. Involved in several processes, including establishment of Golgi localization; negative regulation of Rho guanyl-nucleotide exchange factor activity; and negative regulation of Rho protein signal transduction. Located in Golgi apparatus; cell leading edge; and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 22.0), lung (RPKM 16.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIPOR1 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67518369..67546786)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73323597..73341553)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67562732..67580689)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67477413-67478036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67478661-67479284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67481159-67481658 Neighboring gene ATPase H+ transporting V0 subunit d1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67485489-67486172 Neighboring gene Sharpr-MPRA regulatory region 10086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67495532-67496032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67499338-67499838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67499839-67500339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7606 Neighboring gene ATP6V0D1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10968 Neighboring gene agouti related neuropeptide Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67548235-67548422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7607 Neighboring gene uncharacterized LOC100505942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67571987-67572608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7613 Neighboring gene Sharpr-MPRA regulatory region 14438 Neighboring gene uncharacterized LOC124903703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67586099-67586600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67586601-67587100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10978 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67596785-67597647 Neighboring gene CTCF divergent transcript Neighboring gene CCCTC-binding factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Front-signal-dependent accumulation of the RHOA inhibitor FAM65B at leading edges polarizes neutrophils. Gao K, et al. J Cell Sci, 2015 Mar 1. PMID 25588844, Free PMC Article
    2. RHO binding to FAM65A regulates Golgi reorientation during cell migration. Mardakheh FK, et al. J Cell Sci, 2016 Dec 15. PMID 27807006, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. Nagase T, et al. DNA Res, 2001 Aug 31. PMID 11572484
    4. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article
    5. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13725, KIAA1930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to chemokine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of Golgi localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Rho guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to wounding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in vesicle membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rho family-interacting cell polarization regulator 1
    Names
    family with sequence similarity 65 member A
    protein FAM65A

    NCBI Reference Sequences (RefSeq)

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    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_001193522.2 → NP_001180451.1  rho family-interacting cell polarization regulator 1 isoform 2

      See identical proteins and their annotated locations for NP_001180451.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) has an additional segment in the N-terminal region, as compared to isoform 1.
      Source sequence(s)
      AK127792, BC098587
      Consensus CDS
      CCDS54028.1
      UniProtKB/Swiss-Prot
      B4DEQ9, B4DIM2, E9PBS3, Q4G0A4, Q6ZS17, Q7Z5R7, Q8NDA4, Q96J39, Q96PV8, Q9H8D9
      Related
      ENSP00000368614.3, ENST00000379312.7
      Conserved Domains (3) summary
      pfam13646
      Location:1126 → 1189
      HEAT_2; HEAT repeats
      pfam15903
      Location:17 → 369
      PL48; Filopodia upregulated, FAM65
      sd00044
      Location:1097 → 1127
      HEAT; HEAT repeat [structural motif]

    2. NM_001193523.2 → NP_001180452.1  rho family-interacting cell polarization regulator 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, which includes an upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (3) is the longest, and has a longer N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC027682, AK127792, AK293748, BC098587, DC310605
      Consensus CDS
      CCDS54026.1
      UniProtKB/Swiss-Prot
      Q6ZS17
      Related
      ENSP00000400099.2, ENST00000422602.8
      Conserved Domains (3) summary
      pfam13646
      Location:1142 → 1205
      HEAT_2; HEAT repeats
      pfam15903
      Location:37 → 385
      PL48; Filopodia upregulated, FAM65
      sd00044
      Location:1113 → 1143
      HEAT; HEAT repeat [structural motif]

    3. NM_001193524.2 → NP_001180453.1  rho family-interacting cell polarization regulator 1 isoform 4

      See identical proteins and their annotated locations for NP_001180453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, which includes an upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (4) has a longer N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK295677, BC098587, DC422629
      Consensus CDS
      CCDS54027.1
      UniProtKB/Swiss-Prot
      Q6ZS17
      Related
      ENSP00000389456.2, ENST00000428437.6
      Conserved Domains (3) summary
      pfam13646
      Location:1136 → 1199
      HEAT_2; HEAT repeats
      pfam15903
      Location:31 → 379
      PL48; Filopodia upregulated, FAM65
      sd00044
      Location:1107 → 1137
      HEAT; HEAT repeat [structural motif]

    4. NM_001410885.1 → NP_001397814.1  rho family-interacting cell polarization regulator 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC027682
      Consensus CDS
      CCDS92176.1
      UniProtKB/TrEMBL
      A0A0A0MTL6
      Related
      ENSP00000443568.3, ENST00000540839.7

    5. NM_024519.4 → NP_078795.2  rho family-interacting cell polarization regulator 1 isoform 1

      See identical proteins and their annotated locations for NP_078795.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the shortest but dominant isoform (1).
      Source sequence(s)
      BC098587, CN401995
      Consensus CDS
      CCDS10840.1
      UniProtKB/Swiss-Prot
      Q6ZS17
      Related
      ENSP00000042381.4, ENST00000042381.9
      Conserved Domains (5) summary
      sd00044
      Location:1093 → 1123
      HEAT; HEAT repeat [structural motif]
      pfam13646
      Location:1128 → 1185
      HEAT_2; HEAT repeats
      pfam15903
      Location:17 → 365
      PL48; Filopodia upregulated, FAM65
      cl25496
      Location:417 → 605
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl26464
      Location:392 → 929
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67518369..67546786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434628.1 → XP_047290584.1  rho family-interacting cell polarization regulator 1 isoform X13

    2. XM_047434627.1 → XP_047290583.1  rho family-interacting cell polarization regulator 1 isoform X13

    3. XM_047434626.1 → XP_047290582.1  rho family-interacting cell polarization regulator 1 isoform X13

    4. XM_047434629.1 → XP_047290585.1  rho family-interacting cell polarization regulator 1 isoform X15

    5. XM_011523325.3 → XP_011521627.1  rho family-interacting cell polarization regulator 1 isoform X14

      See identical proteins and their annotated locations for XP_011521627.1

      Conserved Domains (5) summary
      sd00044
      Location:1102 → 1132
      HEAT; HEAT repeat [structural motif]
      pfam13646
      Location:1137 → 1194
      HEAT_2; HEAT repeats
      pfam15903
      Location:17 → 374
      PL48; Filopodia upregulated, FAM65
      cl25496
      Location:426 → 614
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl26464
      Location:401 → 938
      Atrophin-1; Atrophin-1 family

    6. XM_047434630.1 → XP_047290586.1  rho family-interacting cell polarization regulator 1 isoform X16

    7. XM_047434616.1 → XP_047290572.1  rho family-interacting cell polarization regulator 1 isoform X1

    8. XM_047434618.1 → XP_047290574.1  rho family-interacting cell polarization regulator 1 isoform X3

    9. XM_047434620.1 → XP_047290576.1  rho family-interacting cell polarization regulator 1 isoform X7

    10. XM_047434621.1 → XP_047290577.1  rho family-interacting cell polarization regulator 1 isoform X8

    11. XM_011523321.2 → XP_011521623.1  rho family-interacting cell polarization regulator 1 isoform X4

      Conserved Domains (3) summary
      pfam13646
      Location:1151 → 1214
      HEAT_2; HEAT repeats
      pfam15903
      Location:37 → 394
      PL48; Filopodia upregulated, FAM65
      sd00044
      Location:1122 → 1152
      HEAT; HEAT repeat [structural motif]

    12. XM_047434617.1 → XP_047290573.1  rho family-interacting cell polarization regulator 1 isoform X2

    13. XM_011523322.2 → XP_011521624.1  rho family-interacting cell polarization regulator 1 isoform X5

      Conserved Domains (3) summary
      pfam13646
      Location:1151 → 1214
      HEAT_2; HEAT repeats
      pfam15903
      Location:37 → 394
      PL48; Filopodia upregulated, FAM65
      sd00044
      Location:1122 → 1152
      HEAT; HEAT repeat [structural motif]

    14. XM_047434622.1 → XP_047290578.1  rho family-interacting cell polarization regulator 1 isoform X10

    15. XM_047434619.1 → XP_047290575.1  rho family-interacting cell polarization regulator 1 isoform X6

    16. XM_047434624.1 → XP_047290580.1  rho family-interacting cell polarization regulator 1 isoform X11

    17. XM_011523324.4 → XP_011521626.1  rho family-interacting cell polarization regulator 1 isoform X9

      Conserved Domains (3) summary
      pfam13646
      Location:1145 → 1208
      HEAT_2; HEAT repeats
      pfam15903
      Location:31 → 388
      PL48; Filopodia upregulated, FAM65
      sd00044
      Location:1116 → 1146
      HEAT; HEAT repeat [structural motif]

    18. XM_047434625.1 → XP_047290581.1  rho family-interacting cell polarization regulator 1 isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73323597..73341553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313921.1 → XP_054169896.1  rho family-interacting cell polarization regulator 1 isoform X13

    2. XM_054313923.1 → XP_054169898.1  rho family-interacting cell polarization regulator 1 isoform X15

    3. XM_054313922.1 → XP_054169897.1  rho family-interacting cell polarization regulator 1 isoform X14

    4. XM_054313924.1 → XP_054169899.1  rho family-interacting cell polarization regulator 1 isoform X16

    5. XM_054313910.1 → XP_054169885.1  rho family-interacting cell polarization regulator 1 isoform X1

    6. XM_054313911.1 → XP_054169886.1  rho family-interacting cell polarization regulator 1 isoform X3

    7. XM_054313915.1 → XP_054169890.1  rho family-interacting cell polarization regulator 1 isoform X7

    8. XM_054313916.1 → XP_054169891.1  rho family-interacting cell polarization regulator 1 isoform X8

    9. XM_054313912.1 → XP_054169887.1  rho family-interacting cell polarization regulator 1 isoform X4

    10. XM_054313913.1 → XP_054169888.1  rho family-interacting cell polarization regulator 1 isoform X5

    11. XM_054313918.1 → XP_054169893.1  rho family-interacting cell polarization regulator 1 isoform X10

    12. XM_054313914.1 → XP_054169889.1  rho family-interacting cell polarization regulator 1 isoform X6

    13. XM_054313919.1 → XP_054169894.1  rho family-interacting cell polarization regulator 1 isoform X11

    14. XM_054313917.1 → XP_054169892.1  rho family-interacting cell polarization regulator 1 isoform X9

    15. XM_054313920.1 → XP_054169895.1  rho family-interacting cell polarization regulator 1 isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZS17.1 GenPept UniProtKB/Swiss-Prot:Q6ZS17

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