CF157_HUMAN
ID CF157_HUMAN Reviewed; 520 AA.
AC Q5JU67; A5D8T9;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Cilia- and flagella-associated protein 157 {ECO:0000305};
GN Name=CFAP157 {ECO:0000312|HGNC:HGNC:27843};
GN Synonyms=C9orf117 {ECO:0000312|HGNC:HGNC:27843};
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 MRNA] (ISOFORM 2).
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).
CC -!- FUNCTION: Specifically required during spermatogenesis for flagellum
CC morphogenesis and sperm motility. May be required to suppress the
CC formation of supernumerary axonemes and ensure a correct
CC ultrastructure. {ECO:0000250|UniProtKB:Q0VFX2}.
CC -!- SUBUNIT: Interacts with TUBB and TUBA4A. Interacts with CEP350.
CC {ECO:0000250|UniProtKB:Q0VFX2}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:Q0VFX2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5JU67-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5JU67-2; Sequence=VSP_028641, VSP_028642;
CC -!- SIMILARITY: Belongs to the CFAP157 family. {ECO:0000305}.
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DR EMBL; AL162426; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC141809; AAI41810.1; -; mRNA.
DR CCDS; CCDS43878.1; -. [Q5JU67-1]
DR RefSeq; NP_001012520.2; NM_001012502.2. [Q5JU67-1]
DR AlphaFoldDB; Q5JU67; -.
DR SMR; Q5JU67; -.
DR BioGRID; 130334; 2.
DR IntAct; Q5JU67; 3.
DR MINT; Q5JU67; -.
DR STRING; 9606.ENSP00000362392; -.
DR iPTMnet; Q5JU67; -.
DR PhosphoSitePlus; Q5JU67; -.
DR BioMuta; CFAP157; -.
DR DMDM; 74742270; -.
DR EPD; Q5JU67; -.
DR MassIVE; Q5JU67; -.
DR PaxDb; Q5JU67; -.
DR PeptideAtlas; Q5JU67; -.
DR PRIDE; Q5JU67; -.
DR ProteomicsDB; 63255; -. [Q5JU67-1]
DR ProteomicsDB; 63256; -. [Q5JU67-2]
DR Antibodypedia; 7779; 100 antibodies from 19 providers.
DR DNASU; 286207; -.
DR Ensembl; ENST00000373295.7; ENSP00000362392.1; ENSG00000160401.15. [Q5JU67-1]
DR Ensembl; ENST00000614677.1; ENSP00000478313.1; ENSG00000160401.15. [Q5JU67-2]
DR GeneID; 286207; -.
DR KEGG; hsa:286207; -.
DR MANE-Select; ENST00000373295.7; ENSP00000362392.1; NM_001012502.3; NP_001012520.2.
DR UCSC; uc004brn.2; human. [Q5JU67-1]
DR CTD; 286207; -.
DR GeneCards; CFAP157; -.
DR HGNC; HGNC:27843; CFAP157.
DR HPA; ENSG00000160401; Tissue enhanced (choroid plexus, fallopian tube).
DR neXtProt; NX_Q5JU67; -.
DR OpenTargets; ENSG00000160401; -.
DR PharmGKB; PA134929148; -.
DR VEuPathDB; HostDB:ENSG00000160401; -.
DR eggNOG; ENOG502QQK8; Eukaryota.
DR GeneTree; ENSGT00730000111240; -.
DR HOGENOM; CLU_025198_2_0_1; -.
DR InParanoid; Q5JU67; -.
DR OMA; TFYELQI; -.
DR OrthoDB; 1171749at2759; -.
DR PhylomeDB; Q5JU67; -.
DR TreeFam; TF329637; -.
DR PathwayCommons; Q5JU67; -.
DR SignaLink; Q5JU67; -.
DR BioGRID-ORCS; 286207; 7 hits in 1053 CRISPR screens.
DR GenomeRNAi; 286207; -.
DR Pharos; Q5JU67; Tdark.
DR PRO; PR:Q5JU67; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5JU67; protein.
DR Bgee; ENSG00000160401; Expressed in right uterine tube and 117 other tissues.
DR ExpressionAtlas; Q5JU67; baseline and differential.
DR Genevisible; Q5JU67; HS.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0008017; F:microtubule binding; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; ISS:UniProtKB.
DR InterPro; IPR038844; CFAP157.
DR PANTHER; PTHR31954; PTHR31954; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Differentiation; Reference proteome; Spermatogenesis.
FT CHAIN 1..520
FT /note="Cilia- and flagella-associated protein 157"
FT /id="PRO_0000307224"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 416..453
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 33..189
FT /evidence="ECO:0000255"
FT COILED 236..372
FT /evidence="ECO:0000255"
FT COMPBIAS 8..22
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 431..453
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 380..425
FT /note="MHRDEEDSDVDVTFQPWHKEMLQQLLVMLSSTVATRPQKAACPHQE -> TG
FT KTSWKWALRLEFPGRGWVLGPLWACCHPTLTNRCTAMKRTVTLT (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028641"
FT VAR_SEQ 426..520
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028642"
FT VARIANT 483
FT /note="Y -> S (in dbSNP:rs497632)"
FT /id="VAR_050845"
SQ SEQUENCE 520 AA; 60533 MW; F9197B78E37615EA CRC64;
MAPKKSVSKA GKELEVKKKG GKKEPVVAVE PPLAKEMKEF YHIQIRDLED RLARYQRKWD
ELAVQEKMFR QEFEQLANNK KEIVAFLKRT LNQQVDEITD LNEQLQNLQL AKEMEKDAFE
AQLAQVRHEF QETKDQLTTE NIILGGKLAA LEEFRLQKEE VTDKFTLLEE QVRKQENEFR
DYAYNLEKKS VLDKDRLRKE IIQRVNLVAN EFHKVTTNRM WETTKRAIKE NNGITLQMAR
VSQQGMKLLQ ENEQLKGRQN NLCKQLELLE NTQKVMARHK RGHQKIILML TKKCQEQQQD
TKEAEELRLL LSQLEQRSLQ LQVDNQALKS QRDQLSLQLE QQQVDLQRLQ QELANEQKVR
ASLEAALVQA TSFLQNILQM HRDEEDSDVD VTFQPWHKEM LQQLLVMLSS TVATRPQKAA
CPHQESQSHG PPKESRPSIQ LPRTGSLLPQ LSDITPYQPG DLGLVPRQVH IPPNPQDLRL
LSYITRVGTF RAHSSPEMRA PGSLKRLEKF SLPEVPLRPK
