Seroatlas · Human Serome Atlas

CFAP54

Cilia- and flagella-associated protein 54

Also known as: C12orf55, C12orf63, CFA54_HUMAN, FLJ31514, FLJ44112

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

Protein identityUniProt · HPA

UniProt accession: Q96N23
Gene: CFAP54
Ensembl: ENSG00000188596
Chromosome: 12
Canonical length: 3096 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Microtubules,Cytosol

OverviewNCBI Gene

Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

3096 residues, UniProt reviewed canonical sequence.

>Q96N23|CFAP54
     1  MAAQGSPSSS PSDDSTTSGS LPELPPTSTA TSRSPPESKG SSRSSLLQWT CPEDSLPLAV
    61  FYGPLDAKNP LLASCEKEIQ ELLGFMRKKK ALATTEEEKH EFRRRCATSL FNIWTKYAPR
   121  LPADYYNEKL LKVGDSLCQM KEYKLALLQC YGRYLQQFNT NFDENKVDVT QFKATFFPKG
   181  FKDKTAGLTF HALSGKNMCN YQLVCDSDEN LKNKESVVQC LHILSSLRLI MQVALPQEHL
   241  CWIIFNGTIY IYTICRKLMV IGQSSKALEY LLWASMCMES LVPLLSLRYL TWRATLYTAV
   301  CQCCYDCHAG IHGEAFARRA LAKIDELRQL ELMSSSKSQE ESRRYFREAT MKMAVMIFKR
   361  GVFESRRKNK AVFRPKIRIN LREVQTLSWP RTVTERLLDE MFDSTASQFL AVLEALSDSN
   421  RRILQTGPIV TDEVEIHDVV SELFMAGKEL LIMSNIGADG MLDFPKTSLL ELMIGRKDVI
   481  SVDAAVKFIK LAFTYEEWSL FESSAVHLIY FLQRQDDPES KKAEKDLTLL IAMEPLINVK
   541  RNKGLIFPLE NYKEGQSTQI YLKKIAVHDT CLKTCGYSED IFHLAATLYV CVCTAPQDVQ
   601  PDKEIVVDTI MFLWQKCKLG IQRLNISRND YAKFTQKIST NKWIYLLWQI NEVIHCYKME
   661  DIDIVVVAEV TLRLSEILES LGSPGRKFKQ SLDVPLREGT NKFPGAPKGI TEILPILQKN
   721  PVEQLLFAYK LLDRAIGGIN LNCMLTSLPN GSSVIDHCYA KRTHHIDGDT YKPLASNSFM
   781  MDLHLELIQA QHRIAVVLLD KLQVLQTPTV SKDISTKGPE KLKQSGSTDC FTELNIMNKI
   841  KKNTLSKAIY LMQKALLIFE KDATSTSSWE LLMEAYSLIQ RIEAEQNALY SYQKYLESSK
   901  RKKSRVPPPP ILLSRTHCSV TLKPAPFTSE VKVSWYCILG CKAEGSYGKV RLNNNHLPNS
   961  GEAIPADGKS VFEVKGLETN EKYVFAVAAY SNNGKLVGGA IGETTKPILV YPPLSTITAR
  1021  MFLTQVAYQV GNYELAKKVF SPVWDYFVAS PLQDEQSVIC LSNIITITQR RLHSDILAET
  1081  SSILLYLFLR NIFVTSDIKI KEENLFCDNI KGNEIFPSQQ IARLIECERV LVALELSNFL
  1141  NDSSYALQAV TQCYGLLAPI IYHNIVLVPV VQILIKCIVV LQGLPSIVCS KKHTASFESI
  1201  QHMIACCIFY ITKILRSWRE YDLAVMIINY GKKMLDITPG CKSLFDGSNE QEEMPEEDSS
  1261  KKSLKTKKPQ QILLPEKINE QLALLETHLL KLTKQYVTSE LSGGEDPIFL YPVVLNWSVK
  1321  GAVKEVMKFK QKPRFLEFFT QVMLKCMNEE KFHLMVEVTT PVHDFLKRRN ESLLGLIKVK
  1381  YKDSALNKKA NKSLKFKAAV MEIGRSAEMQ QRIRSKKKET LRDFIFKNPA ISEMVAHERN
  1441  RRTSVRKAAQ RYLMDYLNPL ILSYVKRKRF HRLSLEEMPW RAQMNLYLAG AHFNLVLQKL
  1501  WECTKMKFGT SHMMVSFRSC DPNMFSLYNS GTVLPTRKLT VENYKAMLDF LLTAKKRKAN
  1561  LPSDAEEFST FINSIMSDEN MSKTQTVYDS DSQSGSSAKE KDRGANLCVM DHFMKIFLYC
  1621  RRAMVLAHRG GYWTLLQNCC RALWNFTQEL QILLKQAVDL DKTFPISQDG FLCTSVLPFY
  1681  LGAELLIDML IQLQNTSSIK PIEDKGEFSV PSCYGNIKND NGGSSLTFEH PLDDVNVVDL
  1741  KWIHDFVLKS LEVLYQVEKW ETLVSLAIQF NTVSHERYTE QVTPLLVYAQ RQLLLRIQKF
  1801  KGPDITQQPC ARYEAEYGEK ITCRNFIGKQ LKINSSTIEA TSNCTDLLKM LISSEYSRAK
  1861  ALVCVPVDVT DTLRCFRETL EKSKYHNRSI RHSRKLLSLF LAQTQDVLQA SNQRSLKVQA
  1921  LHSLGSLLIF AEKKRAAFKC WCQALDDIFR KPDVLHTWKE FGPSLTNVTN SHSPPGFKDY
  1981  SEEFLSRVGI WGCLQGAVIS AKIAQFIKSL NVEKKTDCCI LSALLFQGLL RTTLPHPKAE
  2041  RCYAQYEITQ LLPGIELFSD RYRADICSVI ASLYYIIREL HFVRQNLIVL PLLALYQYFV
  2101  SGICQDITRN LEARILKIEV LIDLRFFSEA FYEISQIFYG KNMPCPIPAG YKATGKMKIF
  2161  QSFDSGKLLT SKENIQAIDE LRNKGLPAVL VTIGQPHLLN KFNFVKAYFF LSVAATINCV
  2221  PENKFKTVIT NKSKPNLPNL EEIYSKDDGS SFYNLTKLKD EITLSMLKSM LLMEAEDRLN
  2281  FLLSEVEQKT LSQCSAGELE IVVEARLQLA AVALQRHRAA YSAAIVFSTL TLLQDSKLFE
  2341  KKVVQDDTEN PVSPGTSVTE NKDDSEFLDP ISLNAREYFN IHLWLRCRLA LVTAFVAQIH
  2401  GIGIVKEDDM TDCLSLINEV CMEAKSAGDT ELQAEFLTQA VILGLQEKHL KADIMTNLQD
  2461  IIHLLEGNEF ISPQSRLTLA RSLVLLDDLT KAEKFKESPS SKTGKLNLLT RAHSILTEQM
  2521  LAFGETIEFR SSNTKYANPL QPLKNIYLPH VMLLAKIKMR IGHTVAKQVY YKNKRKDPSK
  2581  WLPALHLFDV ALKLCRTTAV EEHEVEAEIL FQKGKIERQI LMEEKSPSFQ LESLYEAIQL
  2641  SLKNDQNSGL IRDSYLEMAL LYFHLKKPKI KISGSPLTLK PPLRRSSSVK ETSANKFEMY
  2701  SSLAWIAIRA AAQVSEAVLA INLLIGKKNT RMHKVNQVAL PNIPEFAALD LLSSYTDYLL
  2761  DNYQVLFQTS CTFLYQNDDV CDSADGRKKT QTKVDITWIL LLRYYIHLQR INNLSKLLAS
  2821  ATPVSGISLP DDTLLTSLYN SELILRQKEV HFFLKKFLQL YSSSCIDEFP KELLCQLENP
  2881  PLSEKDLRES SAKLYRDSSV QSILSFKPVS GSSCVDITPI EMVTQASNKE LCFQWYIPPL
  2941  DRPPKETEPM VLLLYAYNLK PLKISDVRHS TYNSTCVGSL WIPLNRVIAI HEKLSNLAQI
  3001  AELSLPAAPE ITSNENIYEV EVEEESVDNE MEDMIIQCCS EIASLFLNDK EPTPLSEVPF
  3061  DISLPSIFNL ERLFDLANGC ILSGGSLFNW IVSIIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP54 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
Highest tissue expression: 6.5 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 6.5 nTPM
retina: 5.6 nTPM
testis: 5 nTPM
fallopian tube: 4.6 nTPM
bone marrow: 2.6 nTPM
duodenum: 1.7 nTPM

Single-cell type

ependymal cells: 3,175 nCPM
choroid plexus epithelial cells: 1,724 nCPM
respiratory ciliated cells: 1,426 nCPM
fallopian tube ciliated cells: 696 nCPM
endometrial ciliated cells: 605 nCPM
epididymal efferent duct ciliated cells: 438 nCPM

Immune cell

basophil: 2.5 nTPM
neutrophil: 1.3 nTPM
naive B-cell: 1.2 nTPM
classical monocyte: 0.8 nTPM
memory B-cell: 0.8 nTPM
naive CD4 T-cell: 0.8 nTPM

Brain region

choroid plexus: 107 nTPM
medulla oblongata: 77 nTPM
midbrain: 75 nTPM
white matter: 66 nTPM
cerebral cortex: 62 nTPM
spinal cord: 62 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP54.

Disease | AllUniProt

Conditions CFAP54 is implicated in, by any mechanism.

Spermatogenic failure 98 (SPGF98) MIM:621124
Ciliary dyskinesia, primary, 54 (CILD54) MIM:621125

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 18 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 98
Ciliary dyskinesia, primary, 54

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): 0.75
gnomAD pLI: 0

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cilia- and flagella-associated protein 54
Cilia- and flagella-associated protein 54

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP54 as an antibody target. Whether an autoantibody or antibody against CFAP54 could matter depends on whether native CFAP54 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP54 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 CFAP54 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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