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

Gene ID: 79567, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 22.0), lung (RPKM 16.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q22.1
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67518369..67546786)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73323597..73341553)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. Large-scale characterization of HeLa cell nuclear phosphoproteins. Beausoleil SA, et al. Proc Natl Acad Sci U S A, 2004 Aug 17. PMID 15302935, Free PMC Article
  5. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Gonzalez-Begne M, et al. J Proteome Res, 2009 Mar. PMID 19199708, Free PMC Article

See all (23) 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 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 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 
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_2023_10

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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