Seroatlas · Human Serome Atlas

OFD1

Centriole and centriolar satellite protein OFD1

Also known as: 71-7A, CXorf5, JBTS10, OFD1_HUMAN, RP23

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

Protein identityUniProt · HPA

UniProt accession: O75665
Gene: OFD1
Ensembl: ENSG00000046651
Chromosome: X
Canonical length: 1012 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Microtubules,Primary cilium,End piece
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

1012 residues, UniProt reviewed canonical sequence.

>O75665|OFD1
     1  MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH PVLSGELQPR
    61  SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL AKEKVFTMQD LLQLIKINPT
   121  SSLYKSLVSG SDKENQKGFL MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID
   181  DQFADAYPQR IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK
   241  ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE
   301  AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL LKYQLELKDD
   361  YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV NRVKELELEL ESVKAQSLAI
   421  TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ NKLLKQQLEE SRNENLRLLN RLAQPAPELA
   481  VFQKELRKAE KAIVVEHEEF ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA
   541  DLKLQLKQTQ TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL NNPFKQENVL
   601  ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ EAERLEKAFR SYHRRVIKNS
   661  AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE QPQVGTLEER NDVVEALTGS
   721  AASRLRGGTS SRRLSSTPLP KAKRSLESEM YLEGLGRSHI ASPSPCPDRM PLPSPTESRH
   781  SLSIPPVSSP PEQKVGLYRR QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM
   841  GGLSPAGDMS HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER RQREERRQSN
   901  LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL EMSNQEIKDK SAHSENPLEK
   961  YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL TGFSHEELDD SW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OFD1 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): 0.56
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

lymph node: 13 nTPM
parathyroid gland: 13 nTPM
tonsil: 12 nTPM
salivary gland: 11 nTPM
spleen: 11 nTPM
bone marrow: 10 nTPM

Single-cell type

pdcs: 391 nCPM
endometrial glandular cells: 355 nCPM
endometrial ciliated cells: 322 nCPM
endometrial luminal cells: 308 nCPM
oocytes: 304 nCPM
late spermatids: 272 nCPM

Immune cell

plasmacytoid DC: 70 nTPM
memory CD8 T-cell: 11 nTPM
NK-cell: 11 nTPM
naive B-cell: 10 nTPM
MAIT T-cell: 10 nTPM
naive CD8 T-cell: 9 nTPM

Brain region

choroid plexus: 3.4 nTPM
medulla oblongata: 2 nTPM
pons: 1.5 nTPM
white matter: 1.4 nTPM
hypothalamus: 1.1 nTPM
thalamus: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OFD1.

Disease | AllUniProt

Conditions OFD1 is implicated in, by any mechanism.

Orofaciodigital syndrome 1 (OFD1) MIM:311200
Simpson-Golabi-Behmel syndrome 2 (SGBS2) MIM:300209
Joubert syndrome 10 (JBTS10) MIM:300804
Retinitis pigmentosa 23 (RP23) MIM:300424

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 1,349 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Orofaciodigital syndrome I
Joubert syndrome
Joubert syndrome 10
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2

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): 0.32
gnomAD pLI: 0.96
gnomAD missense Z: 0.32
DepMap mean gene effect: 0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

LIS1 homology motif
Centriole and centriolar satellite OFD1
LisH

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OFD1 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 OFD1 as an antibody target. Whether an autoantibody or antibody against OFD1 could matter depends on whether native OFD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OFD1 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 OFD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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