Seroatlas · Human Serome Atlas

FAM50A

Protein FAM50A

Also known as: 9F, DXS9928E, FA50A_HUMAN, HXC-26, XAP5

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

Protein identityUniProt · HPA

UniProt accession: Q14320
Gene: FAM50A
Ensembl: ENSG00000071859
Chromosome: X
Canonical length: 339 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

339 residues, UniProt reviewed canonical sequence.

>Q14320|FAM50A
     1  MAQYKGAASE AGRAMHLMKK REKQREQMEQ MKQRIAEENI MKSNIDKKFS AHYDAVEAEL
    61  KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQMK LEKLREKERK KEAKRKISSL
   121  SFTLEEEEEG GEEEEEAAMY EEEMEREEIT TKKRKLGKNP DVDTSFLPDR DREEEENRLR
   181  EELRQEWEAK QEKIKSEEIE ITFSYWDGSG HRRTVKMRKG NTMQQFLQKA LEILRKDFSE
   241  LRSAGVEQLM YIKEDLIIPH HHSFYDFIVT KARGKSGPLF NFDVHDDVRL LSDATVEKDE
   301  SHAGKVVLRS WYEKNKHIFP ASRWEPYDPE KKWDKYTIR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM50A 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): 0.44
Highest tissue expression: 100 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 100 nTPM
spinal cord: 74 nTPM
blood vessel: 69 nTPM
choroid plexus: 69 nTPM
heart muscle: 69 nTPM
colon: 66 nTPM

Single-cell type

hofbauer cells: 202 nCPM
syncytiotrophoblasts: 148 nCPM
extravillous trophoblasts: 140 nCPM
esophageal apical cells: 122 nCPM
enterocytes: 113 nCPM
breast lactating cells: 103 nCPM

Immune cell

non-classical monocyte: 80 nTPM
intermediate monocyte: 72 nTPM
MAIT T-cell: 59 nTPM
classical monocyte: 55 nTPM
T-reg: 54 nTPM
myeloid DC: 51 nTPM

Brain region

pons: 51 nTPM
medulla oblongata: 49 nTPM
white matter: 48 nTPM
thalamus: 47 nTPM
cerebral cortex: 43 nTPM
basal ganglia: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM50A.

Disease | AllUniProt

Conditions FAM50A is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) MIM:300261

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 130 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.29
gnomAD pLI: 0.98
gnomAD missense Z: 3.02
DepMap mean gene effect: -0.53
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

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FAM50A 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 FAM50A as an antibody target. Whether an autoantibody or antibody against FAM50A could matter depends on whether native FAM50A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM50A 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 FAM50A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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