BROMI_HUMAN
ID BROMI_HUMAN Reviewed; 1257 AA.
AC Q96NH3; Q5SZD6; Q5SZM6; Q6ZMY4; Q6ZUR7; Q8NB47;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 4.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Protein broad-minded;
DE AltName: Full=TBC1 domain family member 32;
GN Name=TBC1D32; Synonyms=BROMI, C6orf170, C6orf171;
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] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 408-1257 (ISOFORM 2), AND VARIANTS GLN-82 AND
RP LYS-375.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP INTERACTION WITH FAM149B1.
RX PubMed=30905400; DOI=10.1016/j.ajhg.2019.02.018;
RA Shaheen R., Jiang N., Alzahrani F., Ewida N., Al-Sheddi T., Alobeid E.,
RA Musaev D., Stanley V., Hashem M., Ibrahim N., Abdulwahab F., Alshenqiti A.,
RA Sonmez F.M., Saqati N., Alzaidan H., Al-Qattan M.M., Al-Mohanna F.,
RA Gleeson J.G., Alkuraya F.S.;
RT "Bi-allelic mutations in FAM149B1 cause abnormal primary cilium and a range
RT of ciliopathy phenotypes in humans.";
RL Am. J. Hum. Genet. 104:731-737(2019).
CC -!- FUNCTION: Required for high-level Shh responses in the developing
CC neural tube. Together with CDK20, controls the structure of the primary
CC cilium by coordinating assembly of the ciliary membrane and axoneme,
CC allowing GLI2 to be properly activated in response to Shh signaling (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with CDK20, which promotes CDK20 stability and
CC function (By similarity). Interacts with FAM149B1; may play a role in
CC cilium assembly. {ECO:0000250|UniProtKB:Q3URV1,
CC ECO:0000269|PubMed:30905400}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, cilium
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96NH3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96NH3-4; Sequence=VSP_014546;
CC Name=3;
CC IsoId=Q96NH3-5; Sequence=VSP_035579, VSP_035580;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- CAUTION: The Rab-GAP TBC domain appears to be inactive, probably due to
CC a lack of the essential Arg and Gln in the catalytic finger motifs.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70925.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC03694.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC03694.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC Sequence=BAC86152.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD18591.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AK055461; BAB70925.1; ALT_FRAME; mRNA.
DR EMBL; AK091554; BAC03694.1; ALT_SEQ; mRNA.
DR EMBL; AK125385; BAC86152.1; ALT_INIT; mRNA.
DR EMBL; AK131446; BAD18591.1; ALT_SEQ; mRNA.
DR EMBL; AL035593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139098; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL365508; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL589910; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590225; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43501.1; -. [Q96NH3-1]
DR RefSeq; NP_689943.4; NM_152730.5. [Q96NH3-1]
DR RefSeq; XP_005266918.1; XM_005266861.2.
DR RefSeq; XP_016865886.1; XM_017010397.1.
DR RefSeq; XP_016865887.1; XM_017010398.1. [Q96NH3-4]
DR RefSeq; XP_016865890.1; XM_017010401.1. [Q96NH3-1]
DR AlphaFoldDB; Q96NH3; -.
DR BioGRID; 128710; 90.
DR IntAct; Q96NH3; 10.
DR MINT; Q96NH3; -.
DR STRING; 9606.ENSP00000381270; -.
DR GlyGen; Q96NH3; 1 site.
DR iPTMnet; Q96NH3; -.
DR PhosphoSitePlus; Q96NH3; -.
DR BioMuta; TBC1D32; -.
DR DMDM; 296439461; -.
DR EPD; Q96NH3; -.
DR MassIVE; Q96NH3; -.
DR PaxDb; Q96NH3; -.
DR PeptideAtlas; Q96NH3; -.
DR PRIDE; Q96NH3; -.
DR ProteomicsDB; 77512; -. [Q96NH3-1]
DR ProteomicsDB; 77513; -. [Q96NH3-4]
DR Antibodypedia; 35180; 58 antibodies from 14 providers.
DR DNASU; 221322; -.
DR Ensembl; ENST00000275159.10; ENSP00000275159.6; ENSG00000146350.14. [Q96NH3-4]
DR Ensembl; ENST00000398212.7; ENSP00000381270.2; ENSG00000146350.14. [Q96NH3-1]
DR Ensembl; ENST00000464622.5; ENSP00000428839.1; ENSG00000146350.14. [Q96NH3-5]
DR GeneID; 221322; -.
DR KEGG; hsa:221322; -.
DR MANE-Select; ENST00000398212.7; ENSP00000381270.2; NM_152730.6; NP_689943.4.
DR UCSC; uc003pyo.3; human. [Q96NH3-1]
DR CTD; 221322; -.
DR DisGeNET; 221322; -.
DR GeneCards; TBC1D32; -.
DR HGNC; HGNC:21485; TBC1D32.
DR HPA; ENSG00000146350; Tissue enhanced (retina).
DR MIM; 615867; gene.
DR neXtProt; NX_Q96NH3; -.
DR OpenTargets; ENSG00000146350; -.
DR PharmGKB; PA134871908; -.
DR VEuPathDB; HostDB:ENSG00000146350; -.
DR eggNOG; ENOG502QR93; Eukaryota.
DR GeneTree; ENSGT00940000153528; -.
DR HOGENOM; CLU_260246_0_0_1; -.
DR InParanoid; Q96NH3; -.
DR OMA; RLHISKY; -.
DR OrthoDB; 74051at2759; -.
DR PhylomeDB; Q96NH3; -.
DR TreeFam; TF329092; -.
DR PathwayCommons; Q96NH3; -.
DR SignaLink; Q96NH3; -.
DR BioGRID-ORCS; 221322; 8 hits in 1059 CRISPR screens.
DR ChiTaRS; TBC1D32; human.
DR GenomeRNAi; 221322; -.
DR Pharos; Q96NH3; Tbio.
DR PRO; PR:Q96NH3; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q96NH3; protein.
DR Bgee; ENSG00000146350; Expressed in adrenal tissue and 139 other tissues.
DR ExpressionAtlas; Q96NH3; baseline and differential.
DR Genevisible; Q96NH3; HS.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0007368; P:determination of left/right symmetry; IEA:Ensembl.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0001822; P:kidney development; IEA:Ensembl.
DR GO; GO:0002088; P:lens development in camera-type eye; IEA:Ensembl.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR GO; GO:0061512; P:protein localization to cilium; IEA:Ensembl.
DR GO; GO:0003406; P:retinal pigment epithelium development; IEA:Ensembl.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR GO; GO:0060831; P:smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IEA:Ensembl.
DR InterPro; IPR032735; BROMI.
DR InterPro; IPR039156; PHAF1/BROMI.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR PANTHER; PTHR13465; PTHR13465; 2.
DR PANTHER; PTHR13465:SF3; PTHR13465:SF3; 2.
DR Pfam; PF14961; BROMI; 2.
DR SUPFAM; SSF47923; SSF47923; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm;
KW Developmental protein; Reference proteome.
FT CHAIN 1..1257
FT /note="Protein broad-minded"
FT /id="PRO_0000089557"
FT DOMAIN 1119..1242
FT /note="Rab-GAP TBC"
FT REGION 131..160
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 131..154
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 106..108
FT /note="EYK -> ELP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035579"
FT VAR_SEQ 109..1257
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035580"
FT VAR_SEQ 857
FT /note="R -> RLLSVICCDLDTLLLLEAQYQVSEMLLNAQEENILEISESHR (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_014546"
FT VARIANT 82
FT /note="R -> Q (in dbSNP:rs7767455)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_046958"
FT VARIANT 280
FT /note="I -> V (in dbSNP:rs9490157)"
FT /id="VAR_046959"
FT VARIANT 375
FT /note="T -> K (in dbSNP:rs9387944)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_046960"
FT VARIANT 599
FT /note="I -> V (in dbSNP:rs7745023)"
FT /id="VAR_046961"
FT CONFLICT 554
FT /note="A -> V (in Ref. 1; BAC86152)"
FT /evidence="ECO:0000305"
FT CONFLICT 906
FT /note="Y -> H (in Ref. 1; BAC03694)"
FT /evidence="ECO:0000305"
FT CONFLICT 1210
FT /note="T -> A (in Ref. 1; BAC86152)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1257 AA; 144756 MW; 3370457AB4238DC0 CRC64;
MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR
QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA
VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ
LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT
FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK
EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM
HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL
GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP
KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN
CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF
SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS
DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV
SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD
PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA
KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW
PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP
DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG
KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD
KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP
LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL
QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST
