Seroatlas · Human Serome Atlas

ARMC9

LisH domain-containing protein ARMC9

Also known as: ARM, ARMC9_HUMAN, FLJ12584, KIAA1868, KU-MEL-1

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

Protein identityUniProt · HPA

UniProt accession: Q7Z3E5
Gene: ARMC9
Ensembl: ENSG00000135931
Chromosome: 2
Canonical length: 818 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Flagellar centriole,Mid piece,Annulus

OverviewNCBI Gene

Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

818 residues, UniProt reviewed canonical sequence.

>Q7Z3E5|ARMC9
     1  MGDILAHESE LLGLVKEYLD FAEFEDTLKT FSKECKIKGK PLCKTVGGSF RDSKSLTIQK
    61  DLVAAFDNGD QKVFFDLWEE HISSSIRDGD SFAQKLEFYL HIHFAIYLLK YSVGRPDKEE
   121  LDEKISYFKT YLETKGAALS QTTEFLPFYA LPFVPNPMVH PSFKELFQDS WTPELKLKLI
   181  KFLALISKAS NTPKLLTIYK ENGQSNKEIL QQLHQQLVEA ERRSVTYLKR YNKIQADYHN
   241  LIGVTAELVD SLEATVSGKM ITPEYLQSVC VRLFSNQMRQ SLAHSVDFTR PGTASTMLRA
   301  SLAPVKLKDV PLLPSLDYEK LKKDLILGSD RLKAFLLQAL RWRLTTSHPG EQRETVLQAY
   361  ISNDLLDCYS HNQRSVLQLL HSTSDVVRQY MARLINAFAS LAEGRLYLAQ NTKVLQMLEG
   421  RLKEEDKDII TRENVLGALQ KFSLRRPLQT AMIQDGLIFW LVDVLKDPDC LSDYTLEYSV
   481  ALLMNLCLRS TGKNMCAKVA GLVLKVLSDL LGHENHEIQP YVNGALYSIL SVPSIREEAR
   541  AMGMEDILRC FIKEGNAEMI RQIEFIIKQL NSEELPDGVL ESDDDEDEDD EEDHDIMEAD
   601  LDKDELIQPQ LGELSGEKLL TTEYLGIMTN TGKTRRKGLA NVQWSGDEPL QRPVTPGGHR
   661  NGYPVVEDQH TPPQTAQHAR NGHPQALPAA HEAVYREGKP STPESCVSSS SAIIAKPGEW
   721  LPRGRQEEPR PAPTGTPRQP REAPQDPGNG VTTRECASAF TCKPRAPCTP EMLDWNPPKA
   781  KASVLAPLFS SCGPQQASRP GSTASSTRGL PSSQSHRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARMC9 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): 0.41
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

retina: 41 nTPM
smooth muscle: 17 nTPM
choroid plexus: 16 nTPM
endometrium: 10 nTPM
parathyroid gland: 8.6 nTPM
adrenal gland: 6.9 nTPM

Single-cell type

cone photoreceptor cells: 1,453 nCPM
rod photoreceptor cells: 1,251 nCPM
retinal pigment epithelial cells: 482 nCPM
choroid plexus epithelial cells: 376 nCPM
melanocytes: 284 nCPM
respiratory ciliated cells: 244 nCPM

Immune cell

NK-cell: 1.4 nTPM
basophil: 0.7 nTPM
eosinophil: 0.3 nTPM
memory B-cell: 0.3 nTPM
naive B-cell: 0.3 nTPM
classical monocyte: 0.2 nTPM

Brain region

choroid plexus: 25 nTPM
cerebral cortex: 16 nTPM
basal ganglia: 14 nTPM
hippocampal formation: 13 nTPM
white matter: 13 nTPM
hypothalamus: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARMC9.

Disease | AllUniProt

Conditions ARMC9 is implicated in, by any mechanism.

Joubert syndrome 30 (JBTS30) MIM:617622

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 756 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joubert syndrome 30
ARMC9-related Joubert syndrome
Joubert syndrome
Dandy-Walker syndrome
Malignant tumor of urinary bladder

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: 0.85
DepMap mean gene effect: -0.01
DepMap dependency class: none

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

Protein domainsUniProt · Pfam · InterPro

LIS1 homology motif
Armadillo-like helical
Armadillo-type fold
ARMC9, CTLH-like domain
Armc9, CTLH-like domain
LisH domain-containing protein ARMC9
ARMC9, LIS1 homology motif
LisH domain-containing protein ARMC9, ARM repeat domain
LisH domain-containing protein ARMC9, ARM repeats
ARMC9, LIS1 homology motif

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ARMC9 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 ARMC9 as an antibody target. Whether an autoantibody or antibody against ARMC9 could matter depends on whether native ARMC9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARMC9 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 ARMC9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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