Seroatlas · Human Serome Atlas

FAM120C

Constitutive coactivator of PPAR-gamma-like protein 2

Also known as: CXorf17, F120C_HUMAN, FLJ20506, ORF34

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

Protein identityUniProt · HPA

UniProt accession: Q9NX05
Gene: FAM120C
Ensembl: ENSG00000184083
Chromosome: X
Canonical length: 1096 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nuclear membrane,Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1096 residues, UniProt reviewed canonical sequence.

>Q9NX05|FAM120C
     1  MGVQGFQEFL EKRCPGAVVP VDLLKLARTV SRQQQQQHLH RQLPPTAALA PGAPRAARGS
    61  VPLQPPLPPA ALGAYSGGAG PTRHHHPAHH FHHHGQAQPG LHPPLPPPPP PQLPGARVLV
   121  DAGSALPRLY GGYQTDWVCG GQWNAMLGYL SALCQACAYP GGDGLELVVM FPGGLGKDRL
   181  AEWGRRCQAE RQTAQLIVGH VGNKGTPPPR AWFLPPACLS HCVRLALIRF RVKVFQSLED
   241  HHLEVVAFFR ENGFHGLLAH DSEYALYNIP SYYSSHALKL SWNGKNLTTN QFLMQEVAKQ
   301  LGLKRMNFPI FAALLGNHIL PDEDLAAFHW SLLGPEHPLA SLKVRAHQLV LPPCDVVIKA
   361  VSEYVSSIKD PSNLDVVGKD VFKQSQSRTE DKIERFKKAV EYYSVTTKLS SLPVGPSFLG
   421  FRNNRLGNPP LPRNQVGTIS AGKPMFSHQV PQKVKYPPPF PVGPNSSLLF SSHALGESHA
   481  FSEDPMLQNS PFANWAVSYD SSASQFPNYL PSKASPPLGP DSSHSSSSDG DEPNGASSDH
   541  ITEAFHHQPE WGNPNRDRGS WAQPVDTGVS EASLGDGEPH IPSLLSMSTR NHMDITIPPL
   601  PPVAPEVLRV AEHRHRRGLM YPYIYHVLTK GEIKIPVCIE DECNMELPPA ALLFRSARQY
   661  VYGVLFSLAE TQRKMERLAM RRRLPVEVPS VILKEWSAYK GKSPQTPELV SALTFREWTC
   721  PNLKKLWLGK AVEDKNRRMR AFLACMKSDT PSMLNPANVP THLLLMCCVL RYMVQWPGGR
   781  ILHRHELDTF LAQAVSTQLY EPDRLQELKI EKLDARGIQL AALFMSGVDT ALFANDACGQ
   841  PVPWEHCCPW IYFDGKLFQS KLIKAGRERV SLVELCDGQA DLATKVEKMR QSILEGVNMN
   901  HPPPSALLPS PTFVPPMVPS LYPVSLYSRA MGSMPLPPQG RSRGFAGLHP IPPQGGKLEI
   961  AGMVVGQWAG SRSSRGRGSF GMQVVSVGGP GKGHGKEQTG RGSKGHKKGN KQGSSDGVSK
  1021  SLELHQGRSR SQVNGNSGAL IKEEKSDHRL PAPSQCALSR DSNECNNGNR YLPMNNREKN
  1081  HLQEQKLETV AQRKED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM120C 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): 0.42
Highest tissue expression: 5.7 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 5.7 nTPM
skeletal muscle: 5.5 nTPM
amygdala: 5.4 nTPM
retina: 5.4 nTPM
cerebral cortex: 5.2 nTPM
spinal cord: 4.9 nTPM

Single-cell type

gonadotrophs: 54 nCPM
lactotrophs: 47 nCPM
adipocytes: 46 nCPM
oligodendrocytes: 43 nCPM
retinal pigment epithelial cells: 43 nCPM
sertoli cells: 41 nCPM

Immune cell

plasmacytoid DC: 3.1 nTPM
memory B-cell: 2.6 nTPM
myeloid DC: 2.5 nTPM
naive B-cell: 2.1 nTPM
naive CD8 T-cell: 1.5 nTPM
classical monocyte: 1.4 nTPM

Brain region

medulla oblongata: 34 nTPM
white matter: 31 nTPM
basal ganglia: 30 nTPM
midbrain: 29 nTPM
spinal cord: 29 nTPM
hypothalamus: 29 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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 3.63
DepMap mean gene effect: -0.01
DepMap dependency class: none

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

Molecular functions

RNA binding

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM120C as an antibody target. Whether an autoantibody or antibody against FAM120C could matter depends on whether native FAM120C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM120C 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 FAM120C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...