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Aliases for FAM161A Gene

Aliases for FAM161A Gene

  • Family With Sequence Similarity 161 Member A 2 3 5
  • Retinitis Pigmentosa 28 (Autosomal Recessive) 2 3
  • Family With Sequence Similarity 161, Member A 2
  • Protein FAM161A 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.

Additional gene information for FAM161A Gene

No data available for CIViC summary , 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

Enhancers for FAM161A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H061886 1.2 ENCODE 9.8 -32.9 -32901 3 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 AHSA2 USP34 ENSG00000236498 XPO1 ENSG00000232713 CCT4 ENSG00000273302 FAM161A COMMD1
GH02H061853 1.1 ENCODE 10.3 +0.9 908 2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS CCT4 USP34 XPO1 FAM161A PEX13 PIR42567
GH02H061928 0.8 Ensembl ENCODE 9.9 -73.6 -73642 1 SOX13 FOXA2 CTBP1 TEAD1 HLF TEAD3 CCT4 COMMD1 FAM161A RPL31P30 ENSG00000278523 GC02P062000
GH02H061770 0.7 ENCODE 10.8 +84.5 84525 1 TBP MAFG EP300 JUND POLR2A ZSCAN5C IKZF1 RCOR1 NFE2 CUX1 FAM161A RPL31P30 AHSA2 LOC105374760 LOC647077
GH02H061550 0.5 dbSUPER 10.6 +304.3 304268 0 ZNF362 PRDM6 GLIS1 ZNF629 ZNF600 RNU6-1145P USP34 RPL31P30 FAM161A AHSA2 XPO1 LOC100422418
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM161A on UCSC Golden Path with GeneCards custom track

Promoters for FAM161A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117694 1102 2201 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS

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

Genes around FAM161A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM161A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with CEP78 (PubMed:27588451).
    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

Post-translational modifications for FAM161A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM161A Gene

Domains & Families for FAM161A Gene

Gene Families for FAM161A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM161A: view
genes like me logo Genes that share phenotypes with FAM161A: view

Human Phenotype Ontology for FAM161A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM161A Gene

MGI Knock Outs for FAM161A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM161A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM161A gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
mitochondrion 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:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0032391 photoreceptor connecting cilium IDA 22940612
genes like me logo Genes that share ontologies with FAM161A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM161A Gene

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:0030030 cell projection organization IEA --
GO:0050896 response to stimulus IEA --
GO:0060271 cilium assembly IMP 22940612
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM161A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FAM161A Gene



Protein tissue co-expression partners for FAM161A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM161A Gene:

FAM161A

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.

Evidence on tissue expression from TISSUES for FAM161A Gene

  • Eye(4.4)
  • Nervous system(4.2)
  • Intestine(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM161A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FAM161A: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia FAM161A 33 34
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia FAM161A 33 34
  • 85.06 (n)
dog
(Canis familiaris)
Mammalia FAM161A 33 34
  • 84.76 (n)
mouse
(Mus musculus)
Mammalia Fam161a 33 16 34
  • 69.25 (n)
rat
(Rattus norvegicus)
Mammalia Fam161a 33
  • 67.4 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM161A 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM161A 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM161A 33 34
  • 57.16 (n)
lizard
(Anolis carolinensis)
Reptilia FAM161A 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam161a 33
  • 53.16 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558320 33
  • 48.54 (n)
FAM161A 34
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for FAM161A was found in the sources mined by GeneCards:
  • 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
rs200691042 Pathogenic 61,839,695(+) GTATC(A/T)CTCAG nc-transcript-variant, reference, stop-gained
rs202193201 Pathogenic 61,839,437(+) TTCTC(A/C/G/T)TCCTC nc-transcript-variant, reference, synonymous-codon, missense, stop-gained
rs267606793 Pathogenic 61,836,075(-) ACCAA(C/T)GAGAA nc-transcript-variant, reference, stop-gained
rs267606794 Pathogenic 61,840,319(-) AGAAA(C/T)GAAAA nc-transcript-variant, reference, stop-gained
rs397704718 Pathogenic 61,839,648(-) CTTAA(-/CA)GTGTG nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv1668096 CNV deletion 17803354
esv2602978 CNV deletion 19546169
esv2665789 CNV deletion 23128226
esv2720130 CNV deletion 23290073
esv34000 CNV loss 18971310
esv3591024 CNV loss 21293372
esv3591025 CNV loss 21293372
nsv458074 CNV gain 19166990
nsv470467 CNV gain 18288195
nsv582118 CNV gain 21841781
nsv582122 CNV gain 21841781
nsv582123 CNV gain 21841781
nsv7313 OTHER inversion 18451855

Variation tolerance for FAM161A Gene

Residual Variation Intolerance Score: 86.3% 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

Human Gene Mutation Database (HGMD)
FAM161A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM161A

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

Disorders for FAM161A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 28
  • rp28
fam161a-related retinitis pigmentosa
  • retinitis pigmentosa 28
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy and hearing loss
  • crdhl
- elite association - COSMIC cancer census association via MalaCards

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. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. (PMID: 20705279) Bandah-Rozenfeld D … Sharon D (American journal of human genetics 2010) 2 3 4 60
  2. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. (PMID: 20705278) Langmann T … Rivolta C (American journal of human genetics 2010) 2 3 4 60
  3. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. (PMID: 25018096) Roosing S … Cremers FP (American journal of human genetics 2014) 3 4 60
  4. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. (PMID: 22940612) Di Gioia SA … Rivolta C (Human molecular genetics 2012) 3 4 60
  5. The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. (PMID: 22791751) Zach F … Stöhr H (Human molecular genetics 2012) 3 4 60

Products for FAM161A Gene

Sources for FAM161A Gene

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