BORC7_HUMAN
ID BORC7_HUMAN Reviewed; 106 AA.
AC Q96B45; B2R488; B3KUW4; C9K0X3;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 13-FEB-2019, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=BLOC-1-related complex subunit 7 {ECO:0000305};
DE AltName: Full=Diaskedin {ECO:0000303|PubMed:25898167};
GN Name=BORCS7 {ECO:0000312|HGNC:HGNC:23516};
GN Synonyms=C10orf32 {ECO:0000312|HGNC:HGNC:23516};
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 MRNA].
RC TISSUE=Adrenal gland, and Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP FUNCTION, IDENTIFICATION OF THE BORC COMPLEX, AND SUBCELLULAR LOCATION.
RX PubMed=25898167; DOI=10.1016/j.devcel.2015.02.011;
RA Pu J., Schindler C., Jia R., Jarnik M., Backlund P., Bonifacino J.S.;
RT "BORC, a multisubunit complex that regulates lysosome positioning.";
RL Dev. Cell 33:176-188(2015).
CC -!- FUNCTION: As part of the BORC complex may play a role in lysosomes
CC movement and localization at the cell periphery. Associated with the
CC cytosolic face of lysosomes, the BORC complex may recruit ARL8B and
CC couple lysosomes to microtubule plus-end-directed kinesin motor.
CC {ECO:0000305|PubMed:25898167}.
CC -!- SUBUNIT: Component of the BLOC-one-related complex (BORC) which is
CC composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and
CC SNAPIN. {ECO:0000269|PubMed:25898167}.
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
CC -!- MISCELLANEOUS: Diaskedin is from the ancient Greek diaskedazo, meaning
CC to disperse. {ECO:0000303|PubMed:25898167}.
CC -!- SIMILARITY: Belongs to the BORCS7 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH15994.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAG34685.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAI46115.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK098071; BAG53576.1; -; mRNA.
DR EMBL; AK311742; BAG34685.1; ALT_INIT; mRNA.
DR EMBL; AL832477; CAI46115.1; ALT_INIT; mRNA.
DR EMBL; AL358790; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC015994; AAH15994.1; ALT_INIT; mRNA.
DR CCDS; CCDS7542.2; -.
DR RefSeq; NP_001129672.1; NM_001136200.1.
DR RefSeq; NP_653192.2; NM_144591.3.
DR AlphaFoldDB; Q96B45; -.
DR SMR; Q96B45; -.
DR BioGRID; 125633; 27.
DR ComplexPortal; CPX-5029; BORC complex.
DR CORUM; Q96B45; -.
DR IntAct; Q96B45; 6.
DR STRING; 9606.ENSP00000342331; -.
DR iPTMnet; Q96B45; -.
DR PhosphoSitePlus; Q96B45; -.
DR BioMuta; BORCS7; -.
DR EPD; Q96B45; -.
DR jPOST; Q96B45; -.
DR MassIVE; Q96B45; -.
DR MaxQB; Q96B45; -.
DR PaxDb; Q96B45; -.
DR PeptideAtlas; Q96B45; -.
DR PRIDE; Q96B45; -.
DR ProteomicsDB; 76044; -.
DR Antibodypedia; 48493; 66 antibodies from 18 providers.
DR DNASU; 119032; -.
DR Ensembl; ENST00000339834.10; ENSP00000342331.5; ENSG00000166275.16.
DR Ensembl; ENST00000369883.3; ENSP00000358899.3; ENSG00000166275.16.
DR GeneID; 119032; -.
DR KEGG; hsa:119032; -.
DR MANE-Select; ENST00000339834.10; ENSP00000342331.5; NM_001136200.2; NP_001129672.1.
DR UCSC; uc001kwh.3; human.
DR CTD; 119032; -.
DR DisGeNET; 119032; -.
DR GeneCards; BORCS7; -.
DR HGNC; HGNC:23516; BORCS7.
DR HPA; ENSG00000166275; Low tissue specificity.
DR MIM; 616600; gene.
DR neXtProt; NX_Q96B45; -.
DR OpenTargets; ENSG00000166275; -.
DR PharmGKB; PA134928831; -.
DR VEuPathDB; HostDB:ENSG00000166275; -.
DR eggNOG; ENOG502S2QS; Eukaryota.
DR GeneTree; ENSGT00390000015849; -.
DR HOGENOM; CLU_150749_1_0_1; -.
DR InParanoid; Q96B45; -.
DR OMA; FIESKMR; -.
DR OrthoDB; 1626208at2759; -.
DR PhylomeDB; Q96B45; -.
DR TreeFam; TF314767; -.
DR PathwayCommons; Q96B45; -.
DR SignaLink; Q96B45; -.
DR BioGRID-ORCS; 119032; 21 hits in 1040 CRISPR screens.
DR GenomeRNAi; 119032; -.
DR Pharos; Q96B45; Tbio.
DR PRO; PR:Q96B45; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96B45; protein.
DR Bgee; ENSG00000166275; Expressed in adrenal tissue and 189 other tissues.
DR Genevisible; Q96B45; HS.
DR GO; GO:0099078; C:BORC complex; IDA:UniProtKB.
DR GO; GO:0098574; C:cytoplasmic side of lysosomal membrane; IC:ComplexPortal.
DR GO; GO:0032418; P:lysosome localization; IC:ComplexPortal.
DR GO; GO:0072384; P:organelle transport along microtubule; IC:ComplexPortal.
DR GO; GO:0051036; P:regulation of endosome size; IC:ComplexPortal.
DR GO; GO:0062196; P:regulation of lysosome size; IC:ComplexPortal.
DR InterPro; IPR032143; BORCS7.
DR PANTHER; PTHR31397; PTHR31397; 1.
DR Pfam; PF16088; BORCS7; 1.
PE 3: Inferred from homology;
KW Lysosome; Membrane; Reference proteome.
FT CHAIN 1..106
FT /note="BLOC-1-related complex subunit 7"
FT /id="PRO_0000089787"
SQ SEQUENCE 106 AA; 11695 MW; 134926BED02C85CF CRC64;
MMATGTPESQ ARFGQSVKGL LTEKVTTCGT DVIALTKQVL KGSRSSELLG QAARNMVLQE
DAILHSEDSL RKMAIITTHL QYQQEAIQKN VEQSSDLQDQ LNHLLK
