Seroatlas · Human Serome Atlas

FAM177A1

Protein FAM177A1

Also known as: C14orf24, F177A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8N128
Gene: FAM177A1
Ensembl: ENSG00000151327
Chromosome: 14
Canonical length: 213 aa
Protein class: Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Nucleoplasm,Vesicles
Secretome location: Secreted to blood

OverviewNCBI Gene

This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

213 residues, UniProt reviewed canonical sequence.

>Q8N128|FAM177A1
     1  MDQEPVGGVE RGEAVAASGA AAAAAFGESA GQMSNERGFE NVELGVIGKK KKVPRRVIHF
    61  VSGETMEEYS TDEDEVDGLE KKDVLPTVDP TKLTWGPYLW FYMLRAATST LSVCDFLGEK
   121  IASVLGISTP KYQYAIDEYY RMKKEEEEEE EENRMSEEAE KQYQQNKLQT DSIVQTDQPE
   181  TVISSSFVNV NFEMEGDSEV IMESKQNPVS VPP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM177A1 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): 0.6
Highest tissue expression: 80 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 80 nTPM
testis: 78 nTPM
colon: 75 nTPM
liver: 72 nTPM
midbrain: 72 nTPM
heart muscle: 72 nTPM

Single-cell type

early spermatids: 729 nCPM
late spermatids: 705 nCPM
late primary spermatocytes: 635 nCPM
endometrial luminal cells: 559 nCPM
esophageal apical cells: 535 nCPM
endometrial glandular cells: 529 nCPM

Immune cell

neutrophil: 126 nTPM
basophil: 66 nTPM
eosinophil: 63 nTPM
T-reg: 52 nTPM
plasmacytoid DC: 39 nTPM
classical monocyte: 39 nTPM

Brain region

white matter: 80 nTPM
medulla oblongata: 73 nTPM
hypothalamus: 70 nTPM
basal ganglia: 69 nTPM
pons: 68 nTPM
midbrain: 68 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM177A1.

Disease | AllUniProt

Conditions FAM177A1 is implicated in, by any mechanism.

Neurodevelopmental disorder with white matter abnormalities and gait disturbance (NEDWMG) MIM:621152

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 66 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with white matter abnormalities and gait disturbance
FAM177A1-related disorder
Dolichocephaly
Mild obesity
Intellectual disability

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): 1.14
gnomAD pLI: 0
gnomAD missense Z: -0.3
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

Golgi apparatus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM177A1 as an antibody target. Whether an autoantibody or antibody against FAM177A1 could matter depends on whether native FAM177A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM177A1 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 FAM177A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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