CABS1_HUMAN
ID CABS1_HUMAN Reviewed; 395 AA.
AC Q96KC9; B2RCB5; Q86UE0; Q96M17;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Calcium-binding and spermatid-specific protein 1;
DE AltName: Full=Testis development protein NYD-SP26;
GN Name=CABS1; Synonyms=C4orf35;
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].
RC TISSUE=Testis;
RA Sha J.H.;
RT "NYD-SP26: a novel human testis development gene.";
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-211.
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-211.
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-211 AND GLY-298.
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).
CC -!- FUNCTION: Calcium-binding protein (By similarity). Essential for
CC maintaining the structural integrity of the sperm flagella (By
CC similarity). {ECO:0000250|UniProtKB:Q68FX6,
CC ECO:0000250|UniProtKB:Q8C633}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q68FX6}.
CC Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q68FX6}. Cell
CC projection, cilium, flagellum {ECO:0000250|UniProtKB:Q8C633}.
CC Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q8C633}. Note=Mostly cytoplasmic, but associated
CC with the mitochondrial inner membrane during the last steps of
CC spermatid differentiation. Localizes to the principal piece of the
CC sperm flagellum (By similarity). {ECO:0000250|UniProtKB:Q68FX6,
CC ECO:0000250|UniProtKB:Q8C633}.
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DR EMBL; AF380838; AAK57455.1; -; mRNA.
DR EMBL; AK057459; BAB71497.1; -; mRNA.
DR EMBL; AK315022; BAG37512.1; -; mRNA.
DR EMBL; AC106884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX05615.1; -; Genomic_DNA.
DR EMBL; BC046111; AAH46111.1; -; mRNA.
DR CCDS; CCDS3539.1; -.
DR RefSeq; NP_149113.3; NM_033122.3.
DR AlphaFoldDB; Q96KC9; -.
DR BioGRID; 124525; 15.
DR IntAct; Q96KC9; 7.
DR STRING; 9606.ENSP00000273936; -.
DR PhosphoSitePlus; Q96KC9; -.
DR BioMuta; CABS1; -.
DR DMDM; 317373451; -.
DR MassIVE; Q96KC9; -.
DR PaxDb; Q96KC9; -.
DR PeptideAtlas; Q96KC9; -.
DR PRIDE; Q96KC9; -.
DR ProteomicsDB; 77060; -.
DR Antibodypedia; 44320; 57 antibodies from 21 providers.
DR DNASU; 85438; -.
DR Ensembl; ENST00000273936.6; ENSP00000273936.4; ENSG00000145309.6.
DR GeneID; 85438; -.
DR KEGG; hsa:85438; -.
DR MANE-Select; ENST00000273936.6; ENSP00000273936.4; NM_033122.4; NP_149113.3.
DR UCSC; uc003hff.4; human.
DR CTD; 85438; -.
DR DisGeNET; 85438; -.
DR GeneCards; CABS1; -.
DR HGNC; HGNC:30710; CABS1.
DR HPA; ENSG00000145309; Tissue enriched (testis).
DR MIM; 618600; gene.
DR neXtProt; NX_Q96KC9; -.
DR OpenTargets; ENSG00000145309; -.
DR PharmGKB; PA162379775; -.
DR VEuPathDB; HostDB:ENSG00000145309; -.
DR eggNOG; ENOG502RWWC; Eukaryota.
DR GeneTree; ENSGT00390000015647; -.
DR HOGENOM; CLU_719537_0_0_1; -.
DR InParanoid; Q96KC9; -.
DR OMA; KITEPFS; -.
DR OrthoDB; 1176309at2759; -.
DR PhylomeDB; Q96KC9; -.
DR TreeFam; TF338174; -.
DR PathwayCommons; Q96KC9; -.
DR SignaLink; Q96KC9; -.
DR BioGRID-ORCS; 85438; 9 hits in 1065 CRISPR screens.
DR GenomeRNAi; 85438; -.
DR Pharos; Q96KC9; Tbio.
DR PRO; PR:Q96KC9; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q96KC9; protein.
DR Bgee; ENSG00000145309; Expressed in sperm and 38 other tissues.
DR Genevisible; Q96KC9; HS.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0005743; C:mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR GO; GO:0097228; C:sperm principal piece; ISS:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IBA:GO_Central.
DR InterPro; IPR026118; Ca-bd_spermatid.
DR PANTHER; PTHR22810; PTHR22810; 4.
DR Pfam; PF15367; CABS1; 1.
PE 2: Evidence at transcript level;
KW Calcium; Cell projection; Cilium; Cytoplasm; Cytoplasmic vesicle;
KW Flagellum; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..395
FT /note="Calcium-binding and spermatid-specific protein 1"
FT /id="PRO_0000339178"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 335..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 349..371
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 273
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q68FX6"
FT MOD_RES 287
FT /note="Phosphothreonine; by CK2"
FT /evidence="ECO:0000250|UniProtKB:Q68FX6"
FT MOD_RES 319
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q68FX6"
FT MOD_RES 376
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q68FX6"
FT VARIANT 76
FT /note="K -> Q (in dbSNP:rs3796706)"
FT /id="VAR_043924"
FT VARIANT 211
FT /note="T -> I (in dbSNP:rs1351419)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_043925"
FT VARIANT 298
FT /note="W -> G (in dbSNP:rs2291182)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043926"
SQ SEQUENCE 395 AA; 43003 MW; 92165DC845F00BBB CRC64;
MAEDGLPKIY SHPPTESSKT PTAATIFFGA DNAIPKSETT ITSEGDHVTS VNEYMLESDF
STTTDNKLTA KKEKLKSEDD MGTDFIKSTT HLQKEITSLT GTTNSITRDS ITEHFMPVKI
GNISSPVTTV SLIDFSTDIA KEDILLATID TGDAEISITS EVSGTLKDSS AGVADAPAFP
RKKDEADMSN YNSSIKSNVP ADEAVQVTDS TIPEAEIPPA PEESFTTIPD ITALEEEKIT
EIDLSVLEDD TSAVATLTDS DEKFITVFEL TTSAEKDKDK REDTLLTDEE TTEGASIWME
RDTANEAETH SVLLTAVESR YDFVVPASIA TNLVEESSTE EDLSETDNTE TVPKITEPFS
GTTSVLDTPD YKEDTSTTET DIFELLKEEP DEFMI
