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 h... See more...

Aliases for FAM161A Gene

Aliases for FAM161A Gene

  • FAM161 Centrosomal Protein A 2 3 5
  • Retinitis Pigmentosa 28 (Autosomal Recessive) 2 3
  • Family With Sequence Similarity 161 Member A 2 3
  • Protein FAM161A 3 4
  • Family With Sequence Similarity 161, Member A 2
  • FAM161A, Centrosomal Protein 3
  • FLJ13305 2
  • FAM161A 5
  • 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 (FAM161 Centrosomal Protein A) is a Protein Coding gene. Diseases associated with FAM161A include Retinitis Pigmentosa 28 and Retinitis Pigmentosa. An important paralog of this gene is FAM161B.

UniProtKB/Swiss-Prot Summary for FAM161A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM161A Gene

Genomics for FAM161A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM161A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J061853 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 260.2 -0.2 -158 3.4 ZBTB10 SP1 MXD4 CEBPA DEK BRCA1 ZNF217 ZEB1 ZIC2 HOMEZ FAM161A CCT4 USP34 XPO1 PEX13 HSALNG0015345 RPL31P30 COMMD1
GH02J061886 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -34.0 -33957 4.2 CHD2 TBP SP1 MXD4 SIX5 MNT BRCA1 SMAD5 ETS1 IRF2 CCT4 COMMD1 lnc-FAM161A-2 AHSA2P RPS12P3 ENSG00000236498 NONOP2 ENSG00000273302 USP34 XPO1
GH02J061905 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.2 -51.9 -51858 2 ZBTB10 SP1 MXD4 NR2C1 MNT SMAD5 MBD2 ZNF217 POLR2A ZIC2 COMMD1 FAM161A HSALNG0015349 piR-50437-379 CCT4 B3GNT2
GH02J061770 Enhancer 0.8 Ensembl ENCODE 10.8 +83.3 83266 1.5 CUX1 EP300 TBP TCF7L2 JUND NFE2 MAFG MAFF POLR2A NFE2L2 FAM161A RPL31P30 AHSA2P lnc-FAM161A-1 LOC105374760 XPO1
GH02J061928 Enhancer 0.7 Ensembl ENCODE 9.9 -74.9 -74901 1.1 HOMEZ FOXA2 TEAD3 ZNF189 ESRRA HLF CTBP1 SOX13 TEAD1 CBFA2T3 ENSG00000278523 KR153224-006 CCT4 COMMD1 FAM161A RPL31P30 NONHSAG027896.2 B3GNT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM161A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM161A

Top Transcription factor binding sites by QIAGEN in the FAM161A gene promoter:
  • AML1a
  • C/EBPbeta
  • CP2
  • ER-alpha
  • FOXC1
  • HNF-1
  • HNF-1A
  • LUN-1
  • SRF
  • SRY

Genomic Locations for FAM161A Gene

Latest Assembly
chr2:61,800,240-61,854,143
(GRCh38/hg38)
Size:
53,904 bases
Orientation:
Minus strand

Previous Assembly
chr2:62,051,983-62,081,195
(GRCh37/hg19 by Entrez Gene)
Size:
29,213 bases
Orientation:
Minus strand

chr2:62,051,989-62,081,278
(GRCh37/hg19 by Ensembl)
Size:
29,290 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=Truncated N-terminus.; 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:
  • Protein FAM161A (F161A_HUMAN)

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.

Phenotypes From GWAS Catalog for FAM161A Gene

Gene Ontology (GO) - Molecular Function for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22791751
GO:0008017 microtubule binding IMP 22791751
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM161A

No data available for Enzyme Numbers (IUBMB) , 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 3
mitochondrion 2
cytosol 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000235 astral microtubule IDA 22791751
GO:0001917 photoreceptor inner segment IDA 22791751
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005856 cytoskeleton IEA --
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

PathCards logo

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:0044782 cilium organization IBA 21873635
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

mRNA/cDNA for FAM161A Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM161A

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

Expression for FAM161A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FAM161A Gene



Protein tissue co-expression partners for FAM161A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Nervous system(4.3)
  • Blood(4.3)
  • 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
Regions:
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 for research

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 30 31
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM161A 30 31
  • 85.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM161A 30 31
  • 84.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam161a 30 17 31
  • 69.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam161a 30
  • 67.4 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM161A 31
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM161A 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM161A 30 31
  • 57.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM161A 31
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam161a 30
  • 53.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC558320 30
  • 48.54 (n)
FAM161A 31
  • 29 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for FAM161A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM161A: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM161A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
774286 Benign: not provided 61,853,877(-) A/.
NM_001201543.2(FAM161A):c.165= (p.Ala55=)
NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION
840223 Uncertain Significance: Retinitis pigmentosa; not provided 61,840,070(-) C/G
NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
840586 Uncertain Significance: not provided 61,842,119(-) T/A
NM_001201543.2(FAM161A):c.422+3A>T
INTRON
844250 Uncertain Significance: Retinitis pigmentosa; not provided 61,839,647(-) C/G
NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
844843 Pathogenic: not provided 61,840,031(-) ATGGC/A
NM_001201543.2(FAM161A):c.969_972del (p.Lys323fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM161A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for FAM161A Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for FAM161A Gene

MalaCards: The human disease database

(20) MalaCards diseases for FAM161A Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- 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, ECO:0000269 PubMed:31236346}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for 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 (American journal of human genetics 2010) 2 3 4 74
  2. 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) 2 3 4
  3. 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
  4. 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
  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

Products for FAM161A Gene

  • Biorbyt antibodies for FAM161A

Sources for FAM161A Gene