Seroatlas · Human Serome Atlas

FAM149B1

Primary cilium assembly protein FAM149B1

Also known as: F149B_HUMAN, KIAA0974

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

Protein identityUniProt · HPA

UniProt accession: Q96BN6
Gene: FAM149B1
Ensembl: ENSG00000138286
Chromosome: 10
Canonical length: 582 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Microtubules,Primary cilium,Cytosol

OverviewNCBI Gene

Involved in cilium assembly and protein localization to cilium. Predicted to be located in cilium. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

582 residues, UniProt reviewed canonical sequence.

>Q96BN6|FAM149B1
     1  MISRYTRKAV PQSLELKGIT KHALNHHPPP EKLEEISPTS DSHEKDTSSQ SKSDITRESS
    61  FTSADTGNSL SAFPSYTGAG ISTEGSSDFS WGYGELDQNA TEKVQTMFTA IDELLYEQKL
   121  SVHTKSLQEE CQQWTASFPH LRILGRQIIT PSEGYRLYPR SPSAVSASYE TTLSQERDST
   181  IFGIRGKKLH FSSSYAHKAS SIAKSSSFCS MERDEEDSII VSEGIIEEYL AFDHIDIEEG
   241  FHGKKSEAAT EKQKLGYPPI APFYCMKEDV LAYVFDSVWC KVVSCMEQLT RSHWEGFASD
   301  DESNVAVTRP DSESSCVLSE LHPLVLPRVP QSKVLYITSN PMSLCQASRH QPNVNDLLVH
   361  GMPLQPRNLS LMDKLLDLDD KLLMRPGSST ILSTRNWPNR AVEFSTSSLS YTVQSTRRRN
   421  PPPRTLHPIS TSHSCAETPR SVEEILRGAR VPVAPDSLSS PSPTPLSRNN LLPPIGTAEV
   481  EHVSTVGPQR QMKPHGDSSR AQSAVVDEPN YQQPQERLLL PDFFPRPNTT QSFLLDTQYR
   541  RSCAVEYPHQ ARPGRGSAGP QLHGSTKSQS GGRPVSRTRQ GP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM149B1 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): 0.69
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 25 nTPM
midbrain: 23 nTPM
amygdala: 21 nTPM
testis: 21 nTPM
kidney: 20 nTPM
hippocampal formation: 19 nTPM

Single-cell type

cardiomyocytes: 105 nCPM
fibro-adipogenic progenitors: 84 nCPM
myonuclei: 82 nCPM
cone photoreceptor cells: 62 nCPM
distal convoluted tubule cells: 61 nCPM
corticotrophs: 57 nCPM

Immune cell

NK-cell: 1 nTPM
basophil: 0.7 nTPM
eosinophil: 0.6 nTPM
intermediate monocyte: 0.6 nTPM
plasmacytoid DC: 0.6 nTPM
naive CD4 T-cell: 0.5 nTPM

Brain region

white matter: 28 nTPM
basal ganglia: 24 nTPM
cerebellum: 24 nTPM
medulla oblongata: 24 nTPM
midbrain: 22 nTPM
thalamus: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM149B1.

Disease | AllUniProt

Conditions FAM149B1 is implicated in, by any mechanism.

Joubert syndrome 36 (JBTS36) MIM:618763

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 138 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): 1.05
gnomAD pLI: 0
gnomAD missense Z: 1.56
DepMap mean gene effect: -0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

cilium

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FAM149B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

TBC1D32

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM149B1 as an antibody target. Whether an autoantibody or antibody against FAM149B1 could matter depends on whether native FAM149B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM149B1 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 FAM149B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...