Seroatlas · Human Serome Atlas

CFAP91

Cilia- and flagella-associated protein 91

Also known as: AAT-1, AAT1, AAT1alpha, C3orf15, CaM-IP2, CFA91_HUMAN, MAATS1, SPATA26

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

Protein identityUniProt · HPA

UniProt accession: Q7Z4T9
Gene: CFAP91
Ensembl: ENSG00000183833
Chromosome: 3
Canonical length: 767 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Involved in axonemal central apparatus assembly and spermatogenesis. Predicted to be located in motile cilium and radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

767 residues, UniProt reviewed canonical sequence.

>Q7Z4T9|CFAP91
     1  MSHAVTIEEP QAQPQVSQTR YRERSRAGSH ISSNRAYDFL YDPLFIVSSE KDHTQANIQA
    61  TLIRSRLRKV PRFKTMFSNL IHYPRYSLYW SKSDPVPPFI SREWKGHKEK HREALRQLTT
   121  TDASFQMPKE VYEDPEVTGK NRYKYFERPF LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH
   181  LSIPSKSTVG TQTDYRDADV QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM
   241  IERAREKRAW EASLPALSDT SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL
   301  RKREENQNEV NMKHLNARWS KLQEGKEAKM AKIQRTHVST IRKLVGKRKN IEGKLERRNI
   361  IKDYSDYASQ VYGPLSRLGC FPDNNSEDFV VKNYYLNTYE GLVELESCLP DFVTQPQIRA
   421  PKPKVITTKA GFLKRAARLD YELAEVHKAL LDKKNKVLEV KKPPRFLQRN PIPQPRLPTP
   481  TLEMTSNEEE EMEMAVIYLQ KLLRGRVVQN MMFEGKEKRL ELIQELRTCH ALQEDEKLVK
   541  KAEKQVTLAL QRQRNLHEHK VSLVENHLAG LEGRALADMF DFLSKELVRL QEERRIHAFV
   601  MLAERQRRVR EAEESGRRQV EKQRLREEDE IFKEVVKVHH STISSYLEDI ILNTEANTAE
   661  EQARAEIEKM AEKINDIAYE MESRRTYLQS EEIVAELVYS FLIPEVQKYF VKEKVRNAQR
   721  KHILAAHQII HSYTESMVQK KLTEGEQDEA SNAAMLLEKE TQNENNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP91 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): 0.52
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 15 nTPM
fallopian tube: 13 nTPM
testis: 8.1 nTPM
pituitary gland: 6.1 nTPM
epididymis: 4.7 nTPM
pancreas: 4.5 nTPM

Single-cell type

early spermatids: 324 nCPM
late primary spermatocytes: 244 nCPM
renal collecting duct principal cells: 49 nCPM
renal connecting tubule cells: 46 nCPM
distal convoluted tubule cells: 44 nCPM
proximal tubule cells: 40 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: 12 nTPM
medulla oblongata: 5.4 nTPM
midbrain: 4.3 nTPM
hypothalamus: 3.5 nTPM
spinal cord: 3.5 nTPM
pons: 3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP91.

Disease | AllUniProt

Conditions CFAP91 is implicated in, by any mechanism.

Spermatogenic failure 51 (SPGF51) MIM:619177

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 51
Male infertility with teratozoospermia due to single gene mutation

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): 0.89
gnomAD pLI: 0
DepMap mean gene effect: 0.01
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cilia- and flagella-associated protein 91
CFAP91 domain
Cilia- and flagella-associated protein 91

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP91 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 CFAP91 as an antibody target. Whether an autoantibody or antibody against CFAP91 could matter depends on whether native CFAP91 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP91 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 CFAP91 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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