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

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; AllianceGenome:HGNC:25808
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: mouse all
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Genomic context

Location:: 2p15

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (61800240..61854060, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (61806309..61860167, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (62051983..62081195, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Title: Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.
Title: Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Title: Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.
Title: Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with retinal degeneration with severe vision loss and a range of disease onset and progression.
Title: Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
We screened a panel of 120 probands with recessive Retinitis Pigmentosa, and two were found to harbour biallelic FAM161A variants.
Title: Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations.
Title: A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
FAM161A's activities are probably not limited to ciliary tasks but also extend to more general cellular functions, highlighting possible novel mechanisms for the molecular pathology of retinal disease.
Title: Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
Our data indicate that mutations in FAM161A are responsible for 1% of recessive RP cases in North America, similar to the prevalence detected in Germany and unlike the data from Israel and the Palestinian territories.
Title: Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
Yeast two-hybrid screening of a human retinal cDNA library revealed FAM161A as a binary interaction partner of POC1B.
Title: Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 28 MedGen: C1419614 OMIM: 606068 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

RH92836 (e-PCR)
- UniSTS:92755

D2S380 (e-PCR)
- UniSTS:2389

L18426 (e-PCR)
- UniSTS:34648

SHGC-154774 (e-PCR)
- UniSTS:183391

D1S1423 (e-PCR)
- UniSTS:149619

G44364 (e-PCR)
- UniSTS:95150

G65708 (e-PCR)
- UniSTS:225504

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in astral microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor connecting cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in spindle microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein FAM161A

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

NCBI Reference Sequences (RefSeq)

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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

NG_028125.2 RefSeqGene

Range

5000..34212

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001201543.2 → NP_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/TrEMBL

H7C4C9

Related

ENSP00000385158.1, ENST00000404929.6

Conserved Domains (1) summary

pfam10595
Location:234 → 595

UPF0564; uncharacterized protein family UPF0564
NM_032180.3 → NP_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

B4DJV7, Q3B820, Q9H8R2

UniProtKB/TrEMBL

H7C4C9

Related

ENSP00000385893.3, ENST00000405894.3

Conserved Domains (1) summary

pfam10595
Location:234 → 570

UPF0564; uncharacterized protein family UPF0564

RNA

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