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FAM161A FAM161 centrosomal protein A [ Homo sapiens (human) ]

Gene ID: 84140, updated on 12-Oct-2019

Summary

Official Symbol
FAM161Aprovided by HGNC
Official Full Name
FAM161 centrosomal protein Aprovided by HGNC
Primary source
HGNC:HGNC:25808
See related
Ensembl:ENSG00000170264 MIM:613596
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
RP28
Summary
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]
Expression
Broad expression in testis (RPKM 4.2), ovary (RPKM 1.8) and 23 other tissues See more
Orthologs

Genomic context

See FAM161A in Genome Data Viewer
Location:
2p15
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (61800240..61854126, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62051983..62081278, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985767 Neighboring gene uncharacterized LOC105374760 Neighboring gene ribosomal protein S24 pseudogene 7 Neighboring gene serine and arginine repetitive matrix 1 pseudogene Neighboring gene ribosomal protein L31 pseudogene 30

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13305, MGC129982, MGC129983

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein acetylation IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
astral microtubule IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
spindle microtubule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein FAM161A
Names
FAM161A, centrosomal protein
family with sequence similarity 161 member A
retinitis pigmentosa 28 (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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_028125.1 RefSeqGene

    Range
    5001..34296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001201543.2NP_001188472.1  protein FAM161A isoform 1

    See identical proteins and their annotated locations for NP_001188472.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC107081
    Consensus CDS
    CCDS56120.1
    UniProtKB/Swiss-Prot
    Q3B820
    Related
    ENSP00000385158.1, ENST00000404929.6
    Conserved Domains (1) summary
    pfam10595
    Location:234595
    UPF0564; uncharacterized protein family UPF0564
  2. NM_032180.3NP_115556.2  protein FAM161A isoform 2

    See identical proteins and their annotated locations for NP_115556.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon and encodes a shorter isoform (2), as compared to isoform 1.
    Source sequence(s)
    AC107081
    Consensus CDS
    CCDS42687.2
    UniProtKB/Swiss-Prot
    Q3B820
    Related
    ENSP00000385893.3, ENST00000405894.3
    Conserved Domains (1) summary
    pfam10595
    Location:234570
    UPF0564; uncharacterized protein family UPF0564

RNA

  1. NR_037710.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal segment, which results in frame-shift and immature translation termination, and also lacks an internal exon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and does not encode a protein.
    Source sequence(s)
    AC107081
    Related
    ENST00000456262.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    61800240..61854126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005073.1XP_016860562.1  protein FAM161A isoform X2

  2. XM_017005074.1XP_016860563.1  protein FAM161A isoform X3

    Conserved Domains (1) summary
    pfam10595
    Location:44380
    UPF0564; uncharacterized protein family UPF0564
  3. XM_017005072.1XP_016860561.1  protein FAM161A isoform X1

    UniProtKB/Swiss-Prot
    Q3B820
    Conserved Domains (1) summary
    pfam10595
    Location:125461
    UPF0564; Uncharacterized protein family UPF0564

RNA

  1. XR_001738977.1 RNA Sequence

  2. XR_001738976.1 RNA Sequence

  3. XR_001738973.2 RNA Sequence

  4. XR_001738974.2 RNA Sequence

  5. XR_001738972.2 RNA Sequence

  6. XR_001738975.2 RNA Sequence

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