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Aliases for FAM161A Gene

Aliases for FAM161A Gene

  • Family With Sequence Similarity 161, Member A 2 3
  • Retinitis Pigmentosa 28 (Autosomal Recessive) 2 3
  • RP28 3

External Ids for FAM161A Gene

Previous HGNC Symbols for FAM161A Gene

  • RP28

Previous GeneCards Identifiers for FAM161A Gene

  • GC02M061905
  • GC02M062051

Summaries for FAM161A Gene

Entrez Gene Summary for FAM161A Gene

  • This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]

GeneCards Summary for FAM161A Gene

FAM161A (Family With Sequence Similarity 161, Member A) is a Protein Coding gene. Diseases associated with FAM161A include retinitis pigmentosa 28 and fam161a-related retinitis pigmentosa. An important paralog of this gene is FAM161B.

UniProtKB/Swiss-Prot for FAM161A Gene

  • Involved in ciliogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM161A Gene

Genomics for FAM161A Gene

Regulatory Elements for FAM161A Gene

Genomic Location for FAM161A Gene

Chromosome:
2
Start:
61,744,556 bp from pter
End:
61,855,402 bp from pter
Size:
110,847 bases
Orientation:
Minus strand

Genomic View for FAM161A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM161A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM161A Gene

Proteins for FAM161A Gene

  • Protein details for FAM161A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B820-F161A_HUMAN
    Recommended name:
    Protein FAM161A
    Protein Accession:
    Q3B820
    Secondary Accessions:
    • B4DJV7
    • Q9H8R2

    Protein attributes for FAM161A Gene

    Size:
    660 amino acids
    Molecular mass:
    76752 Da
    Quaternary structure:
    • Interacts (via C-terminus) with microtubules. Interacts with LCA5, CEP290 and SDCCAG8. Interacts with FAM161B. Interacts with POC1B.
    SequenceCaution:
    • Sequence=BAG58969.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM161A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM161A Gene

Proteomics data for FAM161A Gene at MOPED

Post-translational modifications for FAM161A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM161A Gene

No data available for DME Specific Peptides for FAM161A Gene

Domains & Families for FAM161A Gene

Protein Domains for FAM161A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM161A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3B820

UniProtKB/Swiss-Prot:

F161A_HUMAN :
  • Belongs to the FAM161 family.
Family:
  • Belongs to the FAM161 family.
genes like me logo Genes that share domains with FAM161A: view

No data available for Gene Families for FAM161A Gene

Function for FAM161A Gene

Molecular function for FAM161A Gene

UniProtKB/Swiss-Prot Function:
Involved in ciliogenesis.

Gene Ontology (GO) - Molecular Function for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22940612
genes like me logo Genes that share ontologies with FAM161A: view

Phenotypes for FAM161A Gene

GenomeRNAi human phenotypes for FAM161A:
genes like me logo Genes that share phenotypes with FAM161A: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM161A Gene

Localization for FAM161A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM161A Gene

Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM161A Gene COMPARTMENTS Subcellular localization image for FAM161A gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0032391 photoreceptor connecting cilium IDA 22940612
GO:0036064 ciliary basal body IDA 22940612
genes like me logo Genes that share ontologies with FAM161A: view

Pathways & Interactions for FAM161A Gene

SuperPathways for FAM161A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0042384 cilium assembly IMP 22940612
GO:0044782 cilium organization --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with FAM161A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM161A Gene

Drugs & Compounds for FAM161A Gene

No Compound Related Data Available

Transcripts for FAM161A Gene

Unigene Clusters for FAM161A Gene

Family with sequence similarity 161, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM161A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1:
SP2: -
SP3: - -

Relevant External Links for FAM161A Gene

GeneLoc Exon Structure for
FAM161A
ECgene alternative splicing isoforms for
FAM161A

Expression for FAM161A Gene

mRNA expression in normal human tissues for FAM161A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM161A Gene

This gene is overexpressed in Heart (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM161A Gene



SOURCE GeneReport for Unigene cluster for FAM161A Gene Hs.440466

mRNA Expression by UniProt/SwissProt for FAM161A Gene

Q3B820-F161A_HUMAN
Tissue specificity: Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested.
genes like me logo Genes that share expression patterns with FAM161A: view

Protein tissue co-expression partners for FAM161A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FAM161A Gene

Orthologs for FAM161A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM161A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM161A 35
  • 85.06 (n)
  • 77.73 (a)
FAM161A 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM161A 35
  • 84.76 (n)
  • 75.67 (a)
FAM161A 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam161a 35
  • 69.25 (n)
  • 55.25 (a)
Fam161a 16
Fam161a 36
  • 55 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM161A 35
  • 99.3 (n)
  • 99.02 (a)
FAM161A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam161a 35
  • 67.4 (n)
  • 53.42 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM161A 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM161A 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM161A 35
  • 57.16 (n)
  • 46.55 (a)
FAM161A 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM161A 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam161a 35
  • 53.16 (n)
  • 45.3 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC558320 35
  • 48.54 (n)
  • 39.23 (a)
FAM161A 36
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for FAM161A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM161A Gene

ENSEMBL:
Gene Tree for FAM161A (if available)
TreeFam:
Gene Tree for FAM161A (if available)

Paralogs for FAM161A Gene

Paralogs for FAM161A Gene

genes like me logo Genes that share paralogs with FAM161A: view

Variants for FAM161A Gene

Sequence variations from dbSNP and Humsavar for FAM161A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs3710 -- 61,836,093(+) CATCC(A/C)TTCCT reference, missense, nc-transcript-variant
rs1000018 -- 61,770,506(-) TGGGA(A/T)TCTTC intron-variant
rs1000019 -- 61,770,442(-) CCTGA(A/G)TAAGT intron-variant
rs1123575 -- 61,838,033(+) CTGCA(A/G)AATTC intron-variant
rs1186833 -- 61,744,106(+) TCATT(C/G)AAAGG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for FAM161A Gene

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv874229 CNV Gain 21882294
esv34000 CNV Loss 18971310
nsv458074 CNV Gain 19166990
nsv470467 CNV Gain 18288195
esv2665789 CNV Deletion 23128226
esv2602978 CNV Deletion 19546169
esv1668096 CNV Deletion 17803354
esv2720130 CNV Deletion 23290073

Variation tolerance for FAM161A Gene

Residual Variation Intolerance Score: 86.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM161A Gene

HapMap Linkage Disequilibrium report
FAM161A
Human Gene Mutation Database (HGMD)
FAM161A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM161A Gene

Disorders for FAM161A Gene

MalaCards: The human disease database

(5) MalaCards diseases for FAM161A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 28
  • rp 28
fam161a-related retinitis pigmentosa
  • retinitis pigmentosa 28
human monocytic ehrlichiosis
  • hme
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy
  • cone-rod dystrophy 5
- elite association

UniProtKB/Swiss-Prot

F161A_HUMAN
  • Retinitis pigmentosa 28 (RP28) [MIM:606068]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:20705278, ECO:0000269 PubMed:20705279}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM161A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM161A
genes like me logo Genes that share disorders with FAM161A: view

No data available for Genatlas for FAM161A Gene

Publications for FAM161A Gene

  1. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. (PMID: 20705278) Langmann T. … Rivolta C. (Am. J. Hum. Genet. 2010) 2 67
  2. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. (PMID: 20705279) Bandah-Rozenfeld D. … Sharon D. (Am. J. Hum. Genet. 2010) 2 67
  3. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. (PMID: 10507729) Gu S. … Gal A. (J. Med. Genet. 1999) 2 67
  4. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. (PMID: 25018096) Roosing S. … Cremers F.P. (Am. J. Hum. Genet. 2014) 67
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67

Products for FAM161A Gene

Sources for FAM161A Gene

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