Seroatlas · Human Serome Atlas

FAM161A

Protein FAM161A

Also known as: F161A_HUMAN, FLJ13305, RP28

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q3B820
Gene: FAM161A
Ensembl: ENSG00000170264
Chromosome: 2
Canonical length: 660 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Golgi apparatus,Centrosome,Basal body,Cytosol,Flagellar centriole

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

660 residues, UniProt reviewed canonical sequence.

>Q3B820|FAM161A
     1  MATSHRVAKL VASSLQTPVN PITGARVAQY EREDPLKALA AAEAILEDEE EEKVAQPAGA
    61  SADLNTSFSG VDEHAPISYE DFVNFPDIHH SNEEYFKKVE ELKAAHIETM AKLEKMYQDK
   121  LHLKEVQPVV IREDSLSDSS RSVSEKNSYH PVSLMTSFSE PDLGQSSSLY VSSSEEELPN
   181  LEKEYPRKNR MMTYAKELIN NMWTDFCVED YIRCKDTGFH AAEKRRKKRK EWVPTITVPE
   241  PFQMMIREQK KKEESMKSKS DIEMVHKALK KQEEDPEYKK KFRANPVPAS VFLPLYHDLV
   301  KQKEERRRSL KEKSKEALLA SQKPFKFIAR EEQKRAAREK QLRDFLKYKK KTNRFKARPI
   361  PRSTYGSTTN DKLKEEELYR NLRTQLRAQE HLQNSSPLPC RSACGCRNPR CPEQAVKLKC
   421  KHKVRCPTPD FEDLPERYQK HLSEHKSPKL LTVCKPFDLH ASPHASIKRE KILADIEADE
   481  ENLKETRWPY LSPRRKSPVR CAGVNPVPCN CNPPVPTVSS RGREQAVRKS EKERMREYQR
   541  ELEEREEKLK KRPLLFERVA QKNARMAAEK HYSNTLKALG ISDEFVSKKG QSGKVLEYFN
   601  NQETKSVTED KESFNEEEKI EERENGEENY FIDTNSQDSY KEKDEANEES EEEKSVEESH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM161A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.61
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

retina: 27 nTPM
testis: 5.2 nTPM
ovary: 4 nTPM
fallopian tube: 3.8 nTPM
choroid plexus: 3.5 nTPM
thyroid gland: 3.4 nTPM

Single-cell type

late spermatids: 475 nCPM
rod photoreceptor cells: 396 nCPM
late primary spermatocytes: 168 nCPM
retinal pigment epithelial cells: 162 nCPM
early spermatids: 157 nCPM
respiratory ciliated cells: 108 nCPM

Immune cell

memory CD4 T-cell: 0.4 nTPM
eosinophil: 0.3 nTPM
naive CD4 T-cell: 0.2 nTPM
T-reg: 0.2 nTPM
MAIT T-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM

Brain region

choroid plexus: 5.3 nTPM
cerebral cortex: 3.4 nTPM
basal ganglia: 2.2 nTPM
hypothalamus: 2.1 nTPM
midbrain: 1.9 nTPM
white matter: 1.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM161A.

Disease | AllUniProt

Conditions FAM161A is implicated in, by any mechanism.

Retinitis pigmentosa 28 (RP28) MIM:606068

Disease | GeneticClinVar

188 pathogenic / likely-pathogenic of 949 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 28
Retinitis pigmentosa
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Cone-rod dystrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.01
gnomAD pLI: 0
gnomAD missense Z: -0.49
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FAM161A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM161A as an antibody target. Whether an autoantibody or antibody against FAM161A could matter depends on whether native FAM161A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM161A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FAM161A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...