Seroatlas · Human Serome Atlas

CFAP44

Cilia- and flagella-associated protein 44

Also known as: CFA44_HUMAN, FLJ11142, WDR52

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

Protein identityUniProt · HPA

UniProt accession: Q96MT7
Gene: CFAP44
Ensembl: ENSG00000206530
Chromosome: 3
Canonical length: 1854 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1854 residues, UniProt reviewed canonical sequence.

>Q96MT7|CFAP44
     1  MKEPDDQDTD GEKSVTSKSD GKKSLRSSKS ESRSPVQEDN TFLEDDTDET FTKGEGSYLE
    61  EDSDEERLEG SLSSFQYGDL QSTTVPQQTP APAVEEAEEE VKKKISESFF YDYMELASMP
   121  FVTLDSNIPL DLLTLVHSFG YDCRKRANLQ LLDDSIAIYI AGNQLIFLNL KTKEQIYLRS
   181  SSGEGIGVIG VHPHKTYFTV AEKGSFPDII IYEYPSLRPY RVLRDGTEKG YAYVDFNYSG
   241  NLLASVGSNP DYTLTIWNWK EEQPILRTKA FSQEVFKVTF NPDKEEQLTT SGSGHIKFWE
   301  MAFTFTGLKL QGSLGRFGKT ITTDIEGYME LPDGKVLSGS EWGNMLLWEG GLIKVELCRG
   361  TSKSCHNGPI NQIMLYEGEV ITVGSDGYVR IWDFETIDTA DVIDETGLLE IEPINELQVD
   421  KNVNLFSMIK MNETGNNFWL AQDANGAIWK LDLSFSNITQ DPECLFSFHS GAIEAVAVSP
   481  LTYLMATTAL DCSVRIYDFA SKTPLAQMKF KQGGTALVWV PRMVNFTGAQ IIVGFEDGVV
   541  RILELYDPKG LTIFAGRKKI LDADIQLKQV FKPHTACVTA LAYERDGEIL ATGSKDQTVF
   601  FFEVERDYKP IGYINTPGPV CQLMWSPMSH PESTLLIICE NGYILEAPLP TIKQEEDDHD
   661  VVSYEIKDMC IKCFHFSSVK SKILRLIEIE KRERQRELKE KIREERRNKL AAEMGEDGEK
   721  EFQEEEEEKE EEEEEEEPLP EIFIPSTPSP ILCGFYSEPG KFWVSLGGYD SGFLYHCEFP
   781  PCDESSDFKE QKDEPIDVRY LADTEDNPIQ TITFNINKVM MFCGMKNGAI RVYVLNQNDP
   841  SLTSLVDYWH FNMHDNNYGC IKSIANSFDD RFLVTAGADG NIFVFNIFSE FMLRKDMKAK
   901  VPSPRFGIET EPIPEDIEDP KAYSIENARR KREHDKLMKE VGEIKARKRE QIKALRSEFC
   961  NLLEMNEKLP KHMQFKRTDF DVDSQIRAEM HRKTAFKIQQ VEKELAWEKE KHELGLMKLK
  1021  NRFRDPLESD TIVVHAILSD HKISSYRLVQ PSKYSKFKRA SQSERKPSKL DRFEKEGPGR
  1081  KDSQRDAGGS VTIQEESIIE KGKKFRPKTL SEIIVENQIE KTRKLILKAE RAQLKIQQRK
  1141  KEWEELYKSK PGDDYEDPKD LQAIKEAQVY MGDFNLKTAP DYKIPEHMRI NAAKKEEELG
  1201  HLDSLVHGNK RHMNKCILSL RDLKVAVVEE IQCLVQELKN IQSTLHISKH IPIPKIPQIH
  1261  PEEVPEKRFQ YDEETLLNFK QQQMKSKDEK SPGVEQTGSG GPVGGFLKLS SRKDGDLTTR
  1321  DSISRSSKAS TFSLDIPKCL EFEKAEPTDV ELEIMKRDEI KHVYMQQYLV NRIKELVVTF
  1381  DAELRLLRHQ KLKLDTQMKL SDLHHVTLFQ EILLLKNFEK QENILQERVN SLDKEEQYMQ
  1441  WKINETLKEM EEKKNEITKL QEQEKALYAG FQAAIGENNK FANFLMKVLK KKIKRVKKKE
  1501  VEGDADEDEE SEESSEEESS LESDEDESES EDEVFDDSIC PTNCDVALFE LALHLREKRL
  1561  DIEEALVEEK KIVDNLKKEY DTLSKKVKIV ATNLNAAEEA LEAYQREKQQ RLNELLVVIP
  1621  LKLHQIEYVV FGEIPSDLSG TLVFSNHALR RLQERIHELQ EENSKQQKLN KEWRERRKQL
  1681  IREKREMTKT IHKMEETVRQ LMISKFGRVV NLEALQTLSV NTTLEELKIR KLRKELANAK
  1741  EMKMWEEKIA QMRWELMMKT KEHTRKLYQM NDLCIEKKKL DSRLNTLQNQ QGNAFQGPRE
  1801  ADVVAREEVT ELIQLQAERI SALKEEIALL RRKGSLILPP IQSPREKEIQ PADL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP44 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): 0.38
Highest tissue expression: 8.1 nTPM

Expression across tissuesHPA

Tissue

retina: 8.1 nTPM
fallopian tube: 6.4 nTPM
choroid plexus: 5.7 nTPM
testis: 5.7 nTPM
pituitary gland: 4.2 nTPM
salivary gland: 3.5 nTPM

Single-cell type

ependymal cells: 1,353 nCPM
choroid plexus epithelial cells: 609 nCPM
respiratory ciliated cells: 238 nCPM
fallopian tube ciliated cells: 172 nCPM
epididymal efferent duct ciliated cells: 151 nCPM
endometrial ciliated cells: 74 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 28 nTPM
medulla oblongata: 14 nTPM
midbrain: 13 nTPM
spinal cord: 12 nTPM
white matter: 6.4 nTPM
pons: 5.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP44.

Disease | AllUniProt

Conditions CFAP44 is implicated in, by any mechanism.

Spermatogenic failure 20 (SPGF20) MIM:617593

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 237 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 20
CFAP44-related disorder

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): 0.56
gnomAD pLI: 0
DepMap mean gene effect: -0.09
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

Biological processes

Molecular functions

peptidase activity

Cellular components

motile cilium

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP44 as an antibody target. Whether an autoantibody or antibody against CFAP44 could matter depends on whether native CFAP44 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP44 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 CFAP44 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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