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RPGRIP1L RPGRIP1-like [ Homo sapiens (human) ]

Gene ID: 23322, updated on 12-Apr-2014
Official Symbol
RPGRIP1Lprovided by HGNC
Official Full Name
RPGRIP1-likeprovided by HGNC
Primary source
HGNC:29168
See related
Ensembl:ENSG00000103494; HPRD:17204; MIM:610937; Vega:OTTHUMG00000173125
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FTM; MKS5; CORS3; JBTS7; NPHP8
Summary
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Location :
16q12.2
Sequence :
Chromosome: 16; NC_000016.10 (53599906..53703859, complement)
See RPGRIP1L in Epigenomics, MapViewer

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723373 Neighboring gene retinoblastoma-like 2 Neighboring gene AKT interacting protein Neighboring gene fat mass and obesity associated Neighboring gene FTO intronic transcript 1 (non-protein coding) Neighboring gene uncharacterized LOC100996338

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
COACH syndrome
MedGen: C1857662 OMIM: 216360 GeneReviews: Not available
Compare labs
Joubert syndrome 7 Compare labs
Meckel syndrome type 5
MedGen: C1969052 OMIM: 611561 GeneReviews: Not available
Compare labs
Nephronophthisis 8
MedGen: CN119610 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
NHGRI GWA Catalog
Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thromboxane A2 receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IEA
Inferred from Electronic Annotation
more info
 
corpus callosum development IEA
Inferred from Electronic Annotation
more info
 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of cell polarity IEA
Inferred from Electronic Annotation
more info
 
head development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
lateral ventricle development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of G-protein coupled receptor protein signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
nose development IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
pericardium development IEA
Inferred from Electronic Annotation
more info
 
regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
tight junction IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein fantom
Names
protein fantom
fantom homolog
nephrocystin-8
RPGR-interacting protein 1-like protein

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.

Genomic

  1. NG_008991.2 RefSeqGene

    Range
    5001..108954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127897.1NP_001121369.1  protein fantom isoform b

    See proteins identical to NP_001121369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB023222, BM683568, BQ576116, CR749645, DA156084, DC423209
    Consensus CDS
    CCDS45486.1
    UniProtKB/Swiss-Prot
    Q68CZ1
    Conserved Domains (3) summary
    cd00030
    Location:792891
    Blast Score: 162
    C2; C2 domain
    pfam06818
    Location:238447
    Blast Score: 122
    Fez1; Fez1
    pfam11618
    Location:631737
    Blast Score: 430
    DUF3250; Protein of unknown function (DUF3250)
  2. NM_015272.2NP_056087.2  protein fantom isoform a

    See proteins identical to NP_056087.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB023222, AC007497, AK026552, AK096333, BQ576116, CD674885, CR749645
    Consensus CDS
    CCDS32447.1
    UniProtKB/Swiss-Prot
    Q68CZ1
    Related
    ENSP00000369257, OTTHUMP00000250116, ENST00000379925, OTTHUMT00000422187
    Conserved Domains (3) summary
    cd00030
    Location:792891
    Blast Score: 163
    C2; C2 domain
    pfam06818
    Location:238447
    Blast Score: 126
    Fez1; Fez1
    pfam11618
    Location:631737
    Blast Score: 430
    DUF3250; Protein of unknown function (DUF3250)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10

    Range
    53599906..53703859, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255867.1XP_005255924.1  

    UniProtKB/TrEMBL
    H3BV03
    Conserved Domains (3) summary
    cd00030
    Location:792891
    Blast Score: 163
    C2; C2 domain
    pfam06818
    Location:238447
    Blast Score: 125
    Fez1; Fez1
    pfam11618
    Location:631737
    Blast Score: 430
    DUF3250; Protein of unknown function (DUF3250)
  2. XM_005255869.1XP_005255926.1  

    Conserved Domains (3) summary
    cd00030
    Location:792891
    Blast Score: 162
    C2; C2 domain
    pfam06818
    Location:238447
    Blast Score: 123
    Fez1; Fez1
    pfam11618
    Location:631737
    Blast Score: 430
    DUF3250; Protein of unknown function (DUF3250)
  3. XM_005255868.1XP_005255925.1  

    Conserved Domains (3) summary
    cd00030
    Location:796895
    Blast Score: 162
    C2; C2 domain
    pfam06818
    Location:238451
    Blast Score: 127
    Fez1; Fez1
    pfam11618
    Location:635741
    Blast Score: 430
    DUF3250; Protein of unknown function (DUF3250)
  4. XM_005255871.1XP_005255928.1  

    Conserved Domains (2) summary
    cd00030
    Location:207306
    Blast Score: 160
    C2; C2 domain
    pfam11618
    Location:46152
    Blast Score: 425
    DUF3250; Protein of unknown function (DUF3250)
  5. XM_005255870.1XP_005255927.1  

    Related
    ENSP00000456534, OTTHUMP00000250118, ENST00000564374, OTTHUMT00000422189
    Conserved Domains (3) summary
    cd00030
    Location:796895
    Blast Score: 162
    C2; C2 domain
    pfam06818
    Location:238451
    Blast Score: 127
    Fez1; Fez1
    pfam11618
    Location:635741
    Blast Score: 430
    DUF3250; Protein of unknown function (DUF3250)

Alternate HuRef

Genomic

  1. AC_000148.1 Alternate HuRef

    Range
    39520935..39624598, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    55040948..55144907, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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