Seroatlas · Human Serome Atlas

CFAP47

Cilia- and flagella-associated protein 47

Also known as: CFA47_HUMAN, CHDC2, CXorf22, CXorf30, CXorf59, FLJ36601, MGC34831, RP13-11B7.1

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

Protein identityUniProt · HPA

UniProt accession: Q6ZTR5
Gene: CFAP47
Ensembl: ENSG00000165164
Chromosome: X
Canonical length: 3187 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

3187 residues, UniProt reviewed canonical sequence.

>Q6ZTR5|CFAP47
     1  MNTQKGSLTI NVHRGSLAMS IQRGSLVPRD MDSSGRDMQL RVIPAEVKFL DTMAGRVYRL
    61  PITVHNICRW NQKIRFKEPV KPQFKLMLTS LDKELASGLQ MTAMVEYHPD KDEDTFDRLL
   121  ISIENKTTEI PLIGLIPSCQ LEIESVVNFG TLVANSKVYS KEITITNHGK APGIFKAEYH
   181  GQLPILIFPT SGIVDAKSSM VIKVDFCADQ PRIVDEEAIV ILQGQPEMLL SIKAHVVEQI
   241  IELLSMSSDR RLECIHFGPV FFGSSKIKHA RVYNNSPEPI NWVAIIQDDA VGEELGTDIQ
   301  QRTDIALNNL TYIRKIKNID TTIIISCLPN EGTLQPYQKT VITFCFTPKL MAVGKKDIGP
   361  SYRQDYALFL RFESVGSKDG FLRDDDYKTI KSERFQKVEL ALTGTGLPVL LQFDPGPVLN
   421  FKPCFMGERS EIQCIIKNQC ELLPVTYHFK KTANFEIDPE KGKITGGGMV DVMCSFVPHQ
   481  LGVFKVKQMI EIIGLVAEED LQSLSVKSFH HVYLAFNSIC KASTKKVVMK FDPGILPSIR
   541  NPTGKFVVKD LAKRKNYAPV AMLQSAMTRT HNHRSCEEPV KDMLLAFPND RAATIRSKDH
   601  HKHFRPIFTK VPRFNYVNHD FAYTTFEKQQ KKLHENYYAM YLKYLRSVRL QKKQAERERM
   661  YSYDDTDIGL EPGSGLKSPS LSEAEIEEEL SSAANSIRAN RLLTTRGIAS QEEESVRRKV
   721  LKGLKSEPST PQEKHDCSLM LTPKQIHQVI VGPSVLNFGN ICVNSPNTHL LHVINMLPMH
   781  VLLQLDTDLE ELQKTNQFSY VILPTSSTYI SMVFDSPTIG KFWKSFTFTV NNVPSGHILV
   841  VAVVQPVTLE LSSNELVLRP RGFFMKTCFR GTVRLYNRQN CCAQFQWQPV NTGRGIAFSI
   901  CPAKGTVEAY SSLECEVTWQ QGFSSPEEGE FILHVFQGNA LKLKCVAHLG RTKVLLLQPR
   961  ILFSNCPQGL TTWRKAILQN VGQNHAYFKV CSQSLLPIIN IIPSQGIVPF GGITVLNISC
  1021  KPTVAEKFDT RAKVSIRHAN VIDLRIGGSA EIADVEINPD VFNFSGAYIG GTQIIPFVIK
  1081  NKGITRARVE FNLKDFPDFS MDLKDKSEEF KDPAVPYIYS LELEENTSLE CSITFSPKEV
  1141  TVVEFIIQVQ INFFESSKLY TKYLSSSPSN PKTVPLIRPC YVQATALQSP LNLSSTKFVF
  1201  EIPLHEMNPN NKVTKTQNLV LYNITKHHVT WTLDLSNTGK LFKDGTFKFS VLNGILRPNE
  1261  KYNVSISFCP NRPGTYTADI PMLLNYIPVC YKILHLTGEV KSPELLFDPP FIFFTPVPLD
  1321  ITTVMDINIL PQNYFRNSTL CVQIPTVRLL DGEEIHPLSV KFPKGRVIPG SHSGINNKLT
  1381  CHLSFKSSKP VSFFTNLLFC DDRKNWFSLP VTATAENCIL TIYPYMAIHL DKQNIILKND
  1441  KDEYLKKTRD GVLPPYQDAK PPSPASIKKT YTTSKFNDAE PAKGNLFIGV EVLPENLHLD
  1501  ESETSEEDHG SLEKEKYEQF LSLEEGTKAH YFFEKVVNAA QTWFSLFGWP EGPHSFSIPE
  1561  TIRRDVYKMQ FYSSTSPPQK FSRQNDFSKY NKTIYDVLLH LSGKMPPGIN SSQSLPVDNH
  1621  EKRVIQLHLQ HSSLLDFLNA QGGCISHVLP EFLLEPEDYK RWIEIMSSTN TMPVSSCTPK
  1681  KKCSIVIEMS KFEAWSKRAW TDVFLQIYKV LVLSRVVPYC SNNMPPICVQ NTPKVNPCFA
  1741  SSNIYSDSER ILLSWMNINY ENTRHVIWKN CHKDVIPSER WIVNFDKDLS DGLVFATQLG
  1801  AYCPFLIESH FINMYTRPKS PEEYLHNCLI IVNTLYEIDF DVEIQATDIC DPNPILMLML
  1861  CVYMYERLPT YLPKKVVSFE CTLHDTVLNK ILLKNSSSRN LVYNARIVGR DAADFSLSQK
  1921  GNVVTISPRN EINVTLKFTS RFIRPAEASL LLISKPKNAV RGITMTFALK GKVLDFKAID
  1981  IIKCESPCYQ FQEVTVNVKN PFHTAGDFSV ILVESSTFVS SPTKLTESRQ YPKHDDDMSS
  2041  SGSDTDQGCS DSPNVLHTSI KSTFIREFFC SMHTVHLGVK GTSSLELRFL PFNMHVRYCV
  2101  IILSNKKIGQ LIYVAEGKGM TPLPSSCLPM NTSSSPVYYS TTREEGPNKK YPVLYLKCKP
  2161  YQILYVDLKL PMTNEAKEKA LAFAAQQQMS SIEYERRLIT GTLESSSIRV AIALLGLTKI
  2221  ETLMLFRISK LRKPKTVSYT TEVSLPKYFY IPEKISIPWI PEPQVIKLSK AKASDGSVPL
  2281  PLQFLPLQSG RYPCKILLKS RYDVRAYYVE GIVNEEQPEA KFEFETPAFE ALTQNIPIKN
  2341  QTNDKWTFQV TIEGEWFYGP VDLHVGPDEI VEYPLTFKPI FECVITGKLI LQNEVDGREH
  2401  IFDIKGVGKK PSALEHITVE CQVGNVTQKH ITLPHFTNTA LTFKVTADLP IVWGNPQITV
  2461  YPYKEILYLI HVRPWKRGIL KGTITFSTTR RCTTRRKHDD YEEDTDQDQA LSCLDSITEQ
  2521  SSILDDADTY GNFNNLRFWY NLEIHSTPGP PIEIMEMTCI ALDSTCIEIP LSNPKDRGLH
  2581  LEVQLTSAAL NGDNEIILSP LQCTKYIVWY SPATTGYSDE SIIFQPEMAE EFWYLLKLTI
  2641  ELPKPTTMPE IQCDLGKHVT QIIPLVNCTH ETLKLQVTNS NPENFVLDIN RKSQLIISPH
  2701  STTELPVLFY PSALGRADHQ ACINFYCTQF TEWKFYLSGV GLFPQPLDTE RITTRIGLQS
  2761  TIVIPFKNPT MEDVLIDIIL TSVEHPRNLV MDHCWDSFIY ESSAFRFSSP SEIQGIALPP
  2821  KGNIDISLLF IPQIMKLHKT MVIIEMTKAN GKYWPIDNFD ELDIKFKSIV GIDSEEIQAI
  2881  HWIYPIVGLP QAPPPKSPPV VIQCQSRKRA EEKVEIILNA GFFGFSLTPD LTEVLVIPKR
  2941  NSHNFCEDPN EIPKIHEFEY EIQFESEAMK SKLESCVALY MIEKSYDIMA KRITFIFNLV
  3001  FTPKKPLRSH ITLKIECVTE GIWKFPIMLI ATEPDTDAVI DIEGVGLFKE SVFELRLKSQ
  3061  TRNPEPFTAH FLPGSDLEFF VKPQAGELLP FNTNGTLITV GFKPKMYCRK YKATLVIQTE
  3121  EMYWKYEING LTPTTVPPKN AKAKIDATHK THDNMPVRPH NFVRENTKLI RTGVSSTIKG
  3181  APLVKNQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP47 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: 4.4 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 4.4 nTPM
pituitary gland: 1.7 nTPM
retina: 1.4 nTPM
choroid plexus: 1.3 nTPM
testis: 0.7 nTPM
basal ganglia: 0.5 nTPM

Single-cell type

ependymal cells: 1,695 nCPM
respiratory ciliated cells: 918 nCPM
endometrial ciliated cells: 854 nCPM
somatotrophs: 686 nCPM
fallopian tube ciliated cells: 667 nCPM
choroid plexus epithelial cells: 336 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

medulla oblongata: 20 nTPM
choroid plexus: 15 nTPM
midbrain: 14 nTPM
white matter: 12 nTPM
spinal cord: 9.9 nTPM
hypothalamus: 6.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP47.

Disease | AllUniProt

Conditions CFAP47 is implicated in, by any mechanism.

Spermatogenic failure, X-linked, 3 (SPGFX3) MIM:301059

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 163 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure, X-linked, 3

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): 0.73
gnomAD pLI: 0.03
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Calponin homology domain
Immunoglobulin-like fold
CH domain superfamily
Cilia- and flagella-associated protein 47 domain
CFAP47-like, immunoglobulin-like domain
Cilia- and flagella-associated protein 47 domain
CFAP47-like, immunoglobulin-like domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP47 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CFAP65

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP47 as an antibody target. Whether an autoantibody or antibody against CFAP47 could matter depends on whether native CFAP47 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP47 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 CFAP47 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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