CFA95_HUMAN
ID CFA95_HUMAN Reviewed; 229 AA.
AC Q5VTT2; A7E2U4; B2RN61;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Cilia- and flagella-associated protein 95 {ECO:0000312|HGNC:HGNC:31422};
GN Name=CFAP95 {ECO:0000312|HGNC:HGNC:31422};
GN Synonyms=C9orf135 {ECO:0000312|HGNC:HGNC:31422};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-75.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J.,
RA Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [5]
RP SUBCELLULAR LOCATION, INTERACTION WITH MYH9 AND MYH10, TISSUE SPECIFICITY,
RP AND INDUCTION.
RX PubMed=28345668; DOI=10.1038/srep45311;
RA Zhou S., Liu Y., Ma Y., Zhang X., Li Y., Wen J.;
RT "C9ORF135 encodes a membrane protein whose expression is related to
RT pluripotency in human embryonic stem cells.";
RL Sci. Rep. 7:45311-45311(2017).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating. {ECO:0000250|UniProtKB:Q32L77}.
CC -!- SUBUNIT: Interacts with MYH9 (PubMed:28345668). Interacts with MYH10
CC (PubMed:28345668). {ECO:0000269|PubMed:28345668}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q32L77}. Cell membrane
CC {ECO:0000269|PubMed:28345668}; Single-pass membrane protein
CC {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:28345668}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VTT2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VTT2-2; Sequence=VSP_056887;
CC -!- TISSUE SPECIFICITY: Expressed in undifferentiated embryonic stem cells.
CC {ECO:0000269|PubMed:28345668}.
CC -!- INDUCTION: Down-regulated following embryonic stem cells
CC differentiation. {ECO:0000269|PubMed:28345668}.
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DR EMBL; AL591215; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL162412; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL603625; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471089; EAW62492.1; -; Genomic_DNA.
DR EMBL; BC136709; AAI36710.1; -; mRNA.
DR EMBL; BC150564; AAI50565.1; -; mRNA.
DR CCDS; CCDS35041.1; -. [Q5VTT2-1]
DR CCDS; CCDS78403.1; -. [Q5VTT2-2]
DR RefSeq; NP_001010940.1; NM_001010940.2. [Q5VTT2-1]
DR RefSeq; NP_001295013.1; NM_001308084.1. [Q5VTT2-2]
DR AlphaFoldDB; Q5VTT2; -.
DR IntAct; Q5VTT2; 1.
DR MINT; Q5VTT2; -.
DR STRING; 9606.ENSP00000366402; -.
DR GlyGen; Q5VTT2; 1 site.
DR iPTMnet; Q5VTT2; -.
DR PhosphoSitePlus; Q5VTT2; -.
DR BioMuta; C9orf135; -.
DR DMDM; 74746987; -.
DR MassIVE; Q5VTT2; -.
DR PaxDb; Q5VTT2; -.
DR PeptideAtlas; Q5VTT2; -.
DR PRIDE; Q5VTT2; -.
DR Antibodypedia; 12367; 26 antibodies from 10 providers.
DR DNASU; 138255; -.
DR Ensembl; ENST00000377197.8; ENSP00000366402.3; ENSG00000204711.9. [Q5VTT2-1]
DR Ensembl; ENST00000527647.5; ENSP00000431855.1; ENSG00000204711.9. [Q5VTT2-2]
DR GeneID; 138255; -.
DR KEGG; hsa:138255; -.
DR MANE-Select; ENST00000377197.8; ENSP00000366402.3; NM_001010940.3; NP_001010940.1.
DR UCSC; uc004ahl.4; human. [Q5VTT2-1]
DR CTD; 138255; -.
DR GeneCards; C9orf135; -.
DR HGNC; HGNC:31422; CFAP95.
DR HPA; ENSG00000204711; Tissue enhanced (fallopian tube, testis).
DR neXtProt; NX_Q5VTT2; -.
DR OpenTargets; ENSG00000204711; -.
DR VEuPathDB; HostDB:ENSG00000204711; -.
DR eggNOG; ENOG502R194; Eukaryota.
DR GeneTree; ENSGT00390000014593; -.
DR HOGENOM; CLU_108076_0_0_1; -.
DR InParanoid; Q5VTT2; -.
DR OMA; WHQAREA; -.
DR OrthoDB; 1568741at2759; -.
DR PhylomeDB; Q5VTT2; -.
DR TreeFam; TF328471; -.
DR PathwayCommons; Q5VTT2; -.
DR SignaLink; Q5VTT2; -.
DR BioGRID-ORCS; 138255; 6 hits in 1062 CRISPR screens.
DR ChiTaRS; C9orf135; human.
DR GenomeRNAi; 138255; -.
DR Pharos; Q5VTT2; Tdark.
DR PRO; PR:Q5VTT2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VTT2; protein.
DR Bgee; ENSG00000204711; Expressed in bronchial epithelial cell and 117 other tissues.
DR ExpressionAtlas; Q5VTT2; baseline and differential.
DR Genevisible; Q5VTT2; HS.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR InterPro; IPR027905; CFAP95.
DR PANTHER; PTHR35069; PTHR35069; 1.
DR Pfam; PF15139; DUF4572; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cytoplasm;
KW Cytoskeleton; Glycoprotein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..229
FT /note="Cilia- and flagella-associated protein 95"
FT /id="PRO_0000271063"
FT TOPO_DOM 1..123
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 124..140
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 141..229
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 75
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:16335952"
FT VAR_SEQ 151..229
FT /note="CALTTYSEDYVPPYDYQPHAYPCQDDYSIVHRKCRSQFTDLNGSKRFGINTW
FT HDESGIYANSDVKQKLYPLTSGPIVPI -> LIPVKMIIP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056887"
SQ SEQUENCE 229 AA; 26445 MW; AD114D75E90777F9 CRC64;
MDSLDRSCQD WCDRKQHWLE IGPPDLVERK GSLTLRSHHK KYSKPVLVYS WHRDREAFPK
GYDIEGPEKV KKLCNSTYRR LGTDESPIWT SETHEKLSQM CLNTEWVEMK SKALLNEETV
SSGIIERVTG LPATGFGAVF PRHPPDWSKM CALTTYSEDY VPPYDYQPHA YPCQDDYSIV
HRKCRSQFTD LNGSKRFGIN TWHDESGIYA NSDVKQKLYP LTSGPIVPI
