Seroatlas · Human Serome Atlas

FAM50B

Protein FAM50B

Also known as: D6S2654E, FA50B_HUMAN, X5L

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

Protein identityUniProt · HPA

UniProt accession: Q9Y247
Gene: FAM50B
Ensembl: ENSG00000145945
Chromosome: 6
Canonical length: 325 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytokinetic bridge,Midbody

OverviewNCBI Gene

This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]

Canonical amino-acid sequenceUniProt

325 residues, UniProt reviewed canonical sequence.

>Q9Y247|FAM50B
     1  MAQYKGTMRE AGRAMHLLKK RERQREQMEV LKQRIAEETI LKSQVDKRFS AHYDAVEAEL
    61  KSSTVGLVTL NDMKARQEAL VRERERQLAK RQHLEEQRLQ QERQREQEQR RERKRKISCL
   121  SFALDDLDDQ ADAAEARRAG NLGKNPDVDT SFLPDRDREE EENRLREELR QEWEAQREKV
   181  KDEEMEVTFS YWDGSGHRRT VRVRKGNTVQ QFLKKALQGL RKDFLELRSA GVEQLMFIKE
   241  DLILPHYHTF YDFIIARARG KSGPLFSFDV HDDVRLLSDA TMEKDESHAG KVVLRSWYEK
   301  NKHIFPASRW EAYDPEKKWD KYTIR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM50B 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): 0.45
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 30 nTPM
basal ganglia: 25 nTPM
cerebellum: 23 nTPM
cerebral cortex: 19 nTPM
hypothalamus: 18 nTPM
heart muscle: 17 nTPM

Single-cell type

loop of henle epithelial cells: 2.1 nCPM
renal collecting duct principal cells: 2 nCPM
papillary tip epithelial cells: 1.8 nCPM
thymic myoid cells: 1.4 nCPM
proximal tubule cells: 1.2 nCPM
renal collecting duct intercalated cells: 1.2 nCPM

Immune cell

T-reg: 36 nTPM
NK-cell: 34 nTPM
MAIT T-cell: 27 nTPM
memory B-cell: 25 nTPM
memory CD4 T-cell: 22 nTPM
naive B-cell: 21 nTPM

Brain region

basal ganglia: 25 nTPM
hypothalamus: 24 nTPM
cerebral cortex: 22 nTPM
hippocampal formation: 21 nTPM
white matter: 21 nTPM
cerebellum: 21 nTPM

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): 0.76
gnomAD pLI: 0.15
gnomAD missense Z: 2.31
DepMap mean gene effect: 0.11
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

chromatin organization

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Acetylation

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM50B as an antibody target. Whether an autoantibody or antibody against FAM50B could matter depends on whether native FAM50B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM50B 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 FAM50B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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