Seroatlas · Human Serome Atlas

FAM13A

Protein FAM13A

Also known as: ARHGAP48, FA13A_HUMAN, FAM13A1, KIAA0914

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

Protein identityUniProt · HPA

UniProt accession: O94988
Gene: FAM13A
Ensembl: ENSG00000138640
Chromosome: 4
Canonical length: 1023 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoli,Cell Junctions,Cytosol

OverviewNCBI Gene

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Implicated in chronic obstructive pulmonary disease. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1023 residues, UniProt reviewed canonical sequence.

>O94988|FAM13A
     1  MGAGALAICQ SKAAVRLKED MKKIVAVPLN EQKDFTYQKL FGVSLQELER QGLTENGIPA
    61  VVWNIVEYLT QHGLTQEGLF RVNGNVKVVE QLRLKFESGV PVELGKDGDV CSAASLLKLF
   121  LRELPDSLIT SALQPRFIQL FQDGRNDVQE SSLRDLIKEL PDTHYCLLKY LCQFLTKVAK
   181  HHVQNRMNVH NLATVFGPNC FHVPPGLEGM KEQDLCNKIM AKILENYNTL FEVEYTENDH
   241  LRCENLARLI IVKEVYYKNS LPILLTRGLE RDMPKPPPKT KIPKSRSEGS IQAHRVLQPE
   301  LSDGIPQLSL RLSYRKACLE DMNSAEGAIS AKLVPSSQED ERPLSPFYLS AHVPQVSNVS
   361  ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS SATSARQRRR QSKEQDEVRH
   421  GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA GERSKPKRQK SSTKLSELHD
   481  NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG HTQHFESPTM KIQEHPSLSD
   541  TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA FSSWQRENSD SDEAHLSPQA
   601  GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP NSHSFMRRRS SSLGSYDDEQ
   661  EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA ANPEVLKWTN DLAKFRRQLK
   721  ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL VDKAIKPSVE ATLESIQRKL
   781  QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG RPVTKNERQV MKPLYDRYRL
   841  VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE IKEEEEGSED DSNVKPDFMV
   901  TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL SNLHAASIPE LLEHLQEMRE
   961  EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK HIKAKLRLLE VLISKRDTDS
  1021  KSM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM13A 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): 0.54
Highest tissue expression: 48 nTPM

Expression across tissuesHPA

Tissue

duodenum: 48 nTPM
parathyroid gland: 46 nTPM
adipose tissue: 46 nTPM
liver: 37 nTPM
pancreas: 36 nTPM
placenta: 33 nTPM

Single-cell type

pancreatic acinar cells: 2,378 nCPM
pituicytes/fscs: 1,236 nCPM
syncytiotrophoblasts: 1,030 nCPM
adipocytes: 918 nCPM
transitional alveolar cells: 726 nCPM
sertoli cells: 605 nCPM

Immune cell

classical monocyte: 4.1 nTPM
myeloid DC: 3.5 nTPM
naive CD4 T-cell: 2.9 nTPM
memory CD4 T-cell: 2.7 nTPM
intermediate monocyte: 2 nTPM
total PBMC: 1.6 nTPM

Brain region

cerebellum: 28 nTPM
choroid plexus: 27 nTPM
cerebral cortex: 23 nTPM
hippocampal formation: 19 nTPM
pons: 19 nTPM
thalamus: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM13A.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

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): 0.83
gnomAD pLI: 0
gnomAD missense Z: 0.8
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

GTPase activator activity

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM13A as an antibody target. Whether an autoantibody or antibody against FAM13A could matter depends on whether native FAM13A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM13A 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 FAM13A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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