SMRP1_HUMAN
ID SMRP1_HUMAN Reviewed; 262 AA.
AC Q8NCR6; Q5T598; Q5T599; Q5T5A0; Q8N9G4; Q96KD1; Q96LN1;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Spermatid-specific manchette-related protein 1;
DE AltName: Full=Ciliated bronchial epithelial protein 1;
DE AltName: Full=Testis development protein NYD-SP22;
GN Name=SMRP1; Synonyms=C9orf24, CBE1;
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 [MRNA] (ISOFORMS 4 AND 5), FUNCTION, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION, AND
RP MUTAGENESIS OF 223-ARG-ARG-224.
RC TISSUE=Bronchus;
RX PubMed=15242845; DOI=10.1165/rcmb.2004-0050oc;
RA Yoshisue H., Puddicombe S.M., Wilson S.J., Haitchi H.M., Powell R.M.,
RA Wilson D.I., Pandit A., Berger A.E., Davies D.E., Holgate S.T.,
RA Holloway J.W.;
RT "Characterization of ciliated bronchial epithelium 1, a ciliated cell-
RT associated gene induced during mucociliary differentiation.";
RL Am. J. Respir. Cell Mol. Biol. 31:491-500(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Testis;
RA Sha J.H., Zhou Z.M., Li J.M.;
RT "A new testis development gene NYD-SP22 from human testes.";
RL Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-233.
RC TISSUE=Testis;
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 [6]
RP DEVELOPMENTAL STAGE.
RX PubMed=19213785; DOI=10.1183/09031936.00157108;
RA Haitchi H.M., Yoshisue H., Ribbene A., Wilson S.J., Holloway J.W.,
RA Bucchieri F., Hanley N.A., Wilson D.I., Zummo G., Holgate S.T.,
RA Davies D.E.;
RT "Chronological expression of Ciliated Bronchial Epithelium 1 during
RT pulmonary development.";
RL Eur. Respir. J. 33:1095-1104(2009).
CC -!- FUNCTION: May play a role in spermatogenesis (By similarity). May be
CC involved in differentiation or function of ciliated cells.
CC {ECO:0000250, ECO:0000269|PubMed:15242845}.
CC -!- SUBUNIT: Interacts with alpha-tubulin. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8NCR6; Q9NQ94: A1CF; NbExp=3; IntAct=EBI-10269322, EBI-2809489;
CC Q8NCR6; O75934: BCAS2; NbExp=3; IntAct=EBI-10269322, EBI-1050106;
CC Q8NCR6; P41182: BCL6; NbExp=3; IntAct=EBI-10269322, EBI-765407;
CC Q8NCR6; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-10269322, EBI-8643161;
CC Q8NCR6; Q9NPB3: CABP2; NbExp=3; IntAct=EBI-10269322, EBI-12011224;
CC Q8NCR6; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-10269322, EBI-744545;
CC Q8NCR6; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-10269322, EBI-10961624;
CC Q8NCR6; Q86X02: CDR2L; NbExp=3; IntAct=EBI-10269322, EBI-11063830;
CC Q8NCR6; O95833: CLIC3; NbExp=3; IntAct=EBI-10269322, EBI-10192241;
CC Q8NCR6; P27658: COL8A1; NbExp=3; IntAct=EBI-10269322, EBI-747133;
CC Q8NCR6; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10269322, EBI-3867333;
CC Q8NCR6; O14964: HGS; NbExp=3; IntAct=EBI-10269322, EBI-740220;
CC Q8NCR6; O75031: HSF2BP; NbExp=3; IntAct=EBI-10269322, EBI-7116203;
CC Q8NCR6; Q7L273: KCTD9; NbExp=3; IntAct=EBI-10269322, EBI-4397613;
CC Q8NCR6; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-10269322, EBI-1048945;
CC Q8NCR6; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-10269322, EBI-12805508;
CC Q8NCR6; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-10269322, EBI-1043191;
CC Q8NCR6; O14770-4: MEIS2; NbExp=3; IntAct=EBI-10269322, EBI-8025850;
CC Q8NCR6; Q86UR1-2: NOXA1; NbExp=3; IntAct=EBI-10269322, EBI-12025760;
CC Q8NCR6; Q92569: PIK3R3; NbExp=3; IntAct=EBI-10269322, EBI-79893;
CC Q8NCR6; O75360: PROP1; NbExp=3; IntAct=EBI-10269322, EBI-9027467;
CC Q8NCR6; Q93062: RBPMS; NbExp=3; IntAct=EBI-10269322, EBI-740322;
CC Q8NCR6; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-10269322, EBI-742688;
CC Q8NCR6; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-10269322, EBI-750487;
CC Q8NCR6; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-10269322, EBI-3918381;
CC Q8NCR6; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-10269322, EBI-7353612;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus
CC {ECO:0000269|PubMed:15242845}. Cytoplasm {ECO:0000269|PubMed:15242845}.
CC Note=Localizes to the manchette in elongating spermatids (By
CC similarity). Predominantly perinuclear in bronchial epithelial cells
CC but also detected in the nucleus in some primary epithelial cells and
CC in a number of cell lines. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=NYD-SP22 v1;
CC IsoId=Q8NCR6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCR6-2; Sequence=VSP_027169, VSP_027171;
CC Name=3; Synonyms=NYD-SP22 v3;
CC IsoId=Q8NCR6-3; Sequence=VSP_027169, VSP_027170;
CC Name=4; Synonyms=CBE1 ORF2;
CC IsoId=Q8NCR6-4; Sequence=VSP_027169, VSP_042861;
CC Name=5; Synonyms=CBE1 ORF1, NYD-SP22 v2;
CC IsoId=Q8NCR6-5; Sequence=VSP_027169;
CC -!- TISSUE SPECIFICITY: Expressed in epithelial cells of nasal polyps and
CC in intact epithelium of bronchial biopsies from subjects with and
CC without asthma. Strong expression in columnar cells with little or no
CC expression in basal epithelial cells along the basement membrane.
CC Strongly expressed in ciliated epithelial cells with lower levels in
CC goblet cells (at protein level). {ECO:0000269|PubMed:15242845}.
CC -!- DEVELOPMENTAL STAGE: Expressed during in vitro differentiation of
CC bronchial epithelial cells. In fetal lung, expression is barely
CC detectable at 10 weeks post-conception but is strong in airway
CC epithelium at 12.3 weeks post-conception. {ECO:0000269|PubMed:15242845,
CC ECO:0000269|PubMed:19213785}.
CC -!- INDUCTION: Down-regulated by IL13. {ECO:0000269|PubMed:15242845}.
CC -!- SIMILARITY: Belongs to the SMRP1 family. {ECO:0000305}.
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DR EMBL; AF367474; AAK53410.1; -; mRNA.
DR EMBL; AK058087; BAB71657.1; -; mRNA.
DR EMBL; AK094751; BAC04412.1; -; mRNA.
DR EMBL; AL356494; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC022084; AAH22084.1; -; mRNA.
DR EMBL; BC029484; AAH29484.1; -; mRNA.
DR CCDS; CCDS59121.1; -. [Q8NCR6-4]
DR CCDS; CCDS6553.1; -. [Q8NCR6-3]
DR CCDS; CCDS6554.1; -. [Q8NCR6-1]
DR CCDS; CCDS6555.1; -. [Q8NCR6-5]
DR RefSeq; NP_001239124.1; NM_001252195.1. [Q8NCR6-4]
DR RefSeq; NP_115985.2; NM_032596.3. [Q8NCR6-1]
DR RefSeq; NP_671697.1; NM_147168.1. [Q8NCR6-5]
DR RefSeq; NP_671698.1; NM_147169.2. [Q8NCR6-3]
DR RefSeq; XP_005251675.1; XM_005251618.4. [Q8NCR6-4]
DR RefSeq; XP_011516357.1; XM_011518055.2. [Q8NCR6-4]
DR AlphaFoldDB; Q8NCR6; -.
DR SMR; Q8NCR6; -.
DR BioGRID; 124203; 37.
DR IntAct; Q8NCR6; 31.
DR STRING; 9606.ENSP00000297623; -.
DR iPTMnet; Q8NCR6; -.
DR PhosphoSitePlus; Q8NCR6; -.
DR BioMuta; C9orf24; -.
DR DMDM; 156630925; -.
DR MassIVE; Q8NCR6; -.
DR PaxDb; Q8NCR6; -.
DR PeptideAtlas; Q8NCR6; -.
DR PRIDE; Q8NCR6; -.
DR ProteomicsDB; 72928; -. [Q8NCR6-1]
DR ProteomicsDB; 72929; -. [Q8NCR6-2]
DR ProteomicsDB; 72930; -. [Q8NCR6-3]
DR ProteomicsDB; 72931; -. [Q8NCR6-4]
DR ProteomicsDB; 72932; -. [Q8NCR6-5]
DR Antibodypedia; 55618; 21 antibodies from 13 providers.
DR DNASU; 84688; -.
DR Ensembl; ENST00000297623.7; ENSP00000297623.2; ENSG00000164972.14. [Q8NCR6-1]
DR Ensembl; ENST00000379124.5; ENSP00000368419.1; ENSG00000164972.14. [Q8NCR6-4]
DR Ensembl; ENST00000379126.7; ENSP00000368421.3; ENSG00000164972.14. [Q8NCR6-3]
DR Ensembl; ENST00000379127.1; ENSP00000368422.1; ENSG00000164972.14. [Q8NCR6-4]
DR Ensembl; ENST00000379133.7; ENSP00000368428.3; ENSG00000164972.14. [Q8NCR6-5]
DR GeneID; 84688; -.
DR KEGG; hsa:84688; -.
DR MANE-Select; ENST00000297623.7; ENSP00000297623.2; NM_032596.4; NP_115985.2.
DR UCSC; uc003zuf.3; human. [Q8NCR6-1]
DR CTD; 84688; -.
DR DisGeNET; 84688; -.
DR GeneCards; C9orf24; -.
DR HGNC; HGNC:19919; C9orf24.
DR HPA; ENSG00000164972; Group enriched (brain, choroid plexus, fallopian tube, testis).
DR MIM; 619502; gene.
DR neXtProt; NX_Q8NCR6; -.
DR OpenTargets; ENSG00000164972; -.
DR PharmGKB; PA134950467; -.
DR VEuPathDB; HostDB:ENSG00000164972; -.
DR eggNOG; ENOG502QRFQ; Eukaryota.
DR GeneTree; ENSGT00390000000945; -.
DR HOGENOM; CLU_1618452_0_0_1; -.
DR InParanoid; Q8NCR6; -.
DR OMA; ANKFVTR; -.
DR OrthoDB; 942401at2759; -.
DR PhylomeDB; Q8NCR6; -.
DR TreeFam; TF335656; -.
DR PathwayCommons; Q8NCR6; -.
DR SignaLink; Q8NCR6; -.
DR BioGRID-ORCS; 84688; 31 hits in 1053 CRISPR screens.
DR ChiTaRS; C9orf24; human.
DR GenomeRNAi; 84688; -.
DR Pharos; Q8NCR6; Tdark.
DR PRO; PR:Q8NCR6; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8NCR6; protein.
DR Bgee; ENSG00000164972; Expressed in bronchial epithelial cell and 122 other tissues.
DR ExpressionAtlas; Q8NCR6; baseline and differential.
DR Genevisible; Q8NCR6; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0002177; C:manchette; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0043014; F:alpha-tubulin binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0065003; P:protein-containing complex assembly; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR028195; SMRP1.
DR PANTHER; PTHR35664; PTHR35664; 1.
DR Pfam; PF15181; SMRP1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Cytoskeleton; Differentiation; Nucleus;
KW Reference proteome; Spermatogenesis.
FT CHAIN 1..262
FT /note="Spermatid-specific manchette-related protein 1"
FT /id="PRO_0000296258"
FT VAR_SEQ 1..135
FT /note="Missing (in isoform 2, isoform 3, isoform 4 and
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15242845, ECO:0000303|Ref.2"
FT /id="VSP_027169"
FT VAR_SEQ 186..262
FT /note="DPLPGRLPFHGYESACSGRHYCLRGMDYYASGAPCTDRRLRPWCREQPTMCT
FT SLRAPARNAVCCYNSPAVILPISEP -> PPYEHRPGMQCAVTTPPPSYYPYPNLRWDT
FT SHFKKSGGPQRNNYVIHPEFVSETYPDYRCW (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_027170"
FT VAR_SEQ 235..262
FT /note="MCTSLRAPARNAVCCYNSPAVILPISEP -> VRFAGLRPPQPGSTPHKPRP
FT RTPPPSSPASFRAGPQPALAPRCTLSRPCRVPPSGSKA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027171"
FT VAR_SEQ 235..262
FT /note="MCTSLRAPARNAVCCYNSPAVILPISEP -> VRCVPPYEHRPGMQCAVTTP
FT PPSYYPYPNLRWDTSHFKKSGGPQRNNYVIHPEFVSETYPDYRCW (in isoform
FT 4)"
FT /evidence="ECO:0000303|PubMed:15242845"
FT /id="VSP_042861"
FT VARIANT 233
FT /note="P -> Q (in dbSNP:rs17852663)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034626"
FT MUTAGEN 223..224
FT /note="RR->AA: Predominantly cytoplasmic rather than
FT nuclear localization."
FT /evidence="ECO:0000269|PubMed:15242845"
FT CONFLICT Q8NCR6-3:61
FT /note="C -> Y (in Ref. 2; AAK53410)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 262 AA; 30167 MW; 6F1FA3A06401BFEB CRC64;
MFLFSRKTRT PISTYSDSYR APTSIKEVYK DPPLCAWEAN KFLTPGLTHT MERHVDPEAL
QKMAKCAVQD YTYRGSISGH PYLPEKYWLS QEEADKCSPN YLGSDWYNTW RMEPYNSSCC
NKYTTYLPRL PKEARMETAV RGMPLECPPR PERLNAYERE VMVNMLNSLS RNQQLPRITP
RCGCVDPLPG RLPFHGYESA CSGRHYCLRG MDYYASGAPC TDRRLRPWCR EQPTMCTSLR
APARNAVCCY NSPAVILPIS EP
