Seroatlas · Human Serome Atlas

KIAA0753

Protein moonraker

Also known as: MNR, MOONR_HUMAN, OFIP

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

Protein identityUniProt · HPA

UniProt accession: Q2KHM9
Gene: KIAA0753
Ensembl: ENSG00000198920
Chromosome: 17
Canonical length: 967 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

967 residues, UniProt reviewed canonical sequence.

>Q2KHM9|KIAA0753
     1  MGPGQPASTC VHLAPRTQLD GRSDPKVLQT QNQLQFNRNV PTHSSNLAIR YSCPHAIRIE
    61  KLKHSYNESY HCKDADCRVG PDLGSSVSFS VISQERLSYA VHLARRDVKR RQFEKHIKEH
   121  HLRSQPQSSQ KCGHTKYKIP DHRVERKESK SQAACQCSHQ PSKVEISSSG AKVYLYSSHP
   181  GQSDLTVPNS PPTHDPGLQP HPRIGDHKNI SEQKSLLEVQ RLQKELSSCI HKIEEVTKKD
   241  RLEEALDPDE ERRIRIRRQE QAARSARMLY VLQQQVKEIQ EELDKLSPHK IKHTKKSWAM
   301  SKLAAAHRGA IRALQMFVTQ FTDRGEHPLP ARCKELGSLI RQLSLCSVKL DADPSVPDVV
   361  IDILQQIEAL ESLLEKKLSP KKVKKCFSEI RSRFPIGSQK ALERWPSTSP KGERRPLTAK
   421  DTFPQETSRP SVAKQLLADK YQPDTELPET QRLQSELDVL DADIVLEEGP FILDQSASFK
   481  DEVLAVAKTK AGKKKPVTEN VPFRKKDTLA PARQQGLRKA ERGRQSQPHS KSRVQQTTVS
   541  SRLKMNRQPV KDRKAPWIPP NPTSPPASPK CAAWLKVKTS PRDATKEPLQ QEDPQEESHL
   601  TGAVEHEAAR LAWLDAETSK RLKELEELKA KEIDSMQKQR LDWLDAETSR RTKELNELKA
   661  EEMYRLQQLS VSATHLADKV EEAVLDRLKP LLVKAQRVNS TTEANIHLKD GSSVNTAKAQ
   721  PAQEVAAVDF ESNNIRQLDD FLEDCASELW AVTHAKILGS ETLATVEDSK DSPDLEIMMR
   781  RMEEMEKYQE SVRQRYNKIA YADPRLWMQE ENNDQKISAI SEKPLSPHPI RITKTVDRKD
   841  PAVNIMLERP CNGNSLDESV GTEEGSEKRE APLLSLAEDS QQKEGRAPLF VPPGMQHSIG
   901  DYCSRFEQYL RIISHEAVGS FNPWLIAESF SEELVDEALG AVAAELQDMC EDYAEAVFTS
   961  EFLEAAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIAA0753 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): 0.57
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

testis: 16 nTPM
parathyroid gland: 13 nTPM
epididymis: 10 nTPM
fallopian tube: 10 nTPM
retina: 10 nTPM
ovary: 9.8 nTPM

Single-cell type

early spermatids: 122 nCPM
choroid plexus epithelial cells: 83 nCPM
ependymal cells: 77 nCPM
respiratory ciliated cells: 75 nCPM
thyrotrophs: 72 nCPM
lactotrophs: 66 nCPM

Immune cell

neutrophil: 1.9 nTPM
memory B-cell: 0.8 nTPM
classical monocyte: 0.7 nTPM
intermediate monocyte: 0.7 nTPM
eosinophil: 0.6 nTPM
MAIT T-cell: 0.6 nTPM

Brain region

choroid plexus: 25 nTPM
cerebral cortex: 17 nTPM
hippocampal formation: 17 nTPM
amygdala: 17 nTPM
basal ganglia: 17 nTPM
hypothalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIAA0753.

Disease | AllUniProt

Conditions KIAA0753 is implicated in, by any mechanism.

Orofaciodigital syndrome 15 (OFD15) MIM:617127
Joubert syndrome 38 (JBTS38) MIM:619476
Short-rib thoracic dysplasia 21 without polydactyly (SRTD21) MIM:619479

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 575 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV
Joubert syndrome 38
Jeune thoracic dystrophy
Autosomal recessive KIAA0753-related disorders

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): 1.11
gnomAD pLI: 0
gnomAD missense Z: 0.21
DepMap mean gene effect: 0.04
DepMap dependency class: selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein moonraker
Protein moonraker

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KIAA0753 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 KIAA0753 as an antibody target. Whether an autoantibody or antibody against KIAA0753 could matter depends on whether native KIAA0753 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIAA0753 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 KIAA0753 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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