Q96NH3 (BROMI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein broad-minded

Gene names

Name:	BROMI
Synonyms:	C6orf170, C6orf171

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1257 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling By similarity.
Subunit structure	Interacts with CDK20, which promotes CDK20 stability and function By similarity.
Subcellular location	Cytoplasm By similarity. Cell projection › cilium By similarity.
Sequence similarities	Contains 1 Rab-GAP TBC domain.
Caution	The Rab-GAP TBC domain appears to be inactive, probably due to a lack of the essential Arg and Gln in the catalytic finger motifs.
Sequence caution	The sequence BAB70925.1 differs from that shown. Reason: Frameshift at position 717. The sequence BAC03694.1 differs from that shown. Reason: Frameshift at position 143. The sequence BAC03694.1 differs from that shown. Reason: Aberrant splicing. The sequence BAC86152.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAD18591.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. The sequence CAI16051.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI20000.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM16339.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM17813.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM28224.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of Rab GTPase activity Inferred from electronic annotation. Source: GOC
Cellular_component	cilium Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	Rab GTPase activator activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96NH3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q96NH3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     857-857: R → RLLSVICCDLDTLLLLEAQYQVSEMLLNAQEENILEISESHR

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96NH3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     106-108: EYK → ELP
     109-1257: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1257	1257	Protein broad-minded		PRO_0000089557
Regions
	Domain	1119 – 1242	124	Rab-GAP TBC
Natural variations
	Alternative sequence	106 – 108	3	EYK → ELP in isoform 3.		VSP_035579
	Alternative sequence	109 – 1257	1149	Missing in isoform 3.		VSP_035580
	Alternative sequence	857	1	R → RLLSVICCDLDTLLLLEAQY QVSEMLLNAQEENILEISES HR in isoform 2.		VSP_014546
	Natural variant	82	1	R → Q. Ref.1 Corresponds to variant rs7767455 [ dbSNP | Ensembl ].		VAR_046958
	Natural variant	280	1	I → V. Corresponds to variant rs9490157 [ dbSNP | Ensembl ].		VAR_046959
	Natural variant	375	1	T → K. Ref.1 Corresponds to variant rs9387944 [ dbSNP | Ensembl ].		VAR_046960
	Natural variant	599	1	I → V. Corresponds to variant rs7745023 [ dbSNP | Ensembl ].		VAR_046961
Experimental info
	Sequence conflict	554	1	A → V in BAC86152. Ref.1
	Sequence conflict	906	1	Y → H in BAC03694. Ref.1
	Sequence conflict	1210	1	T → A in BAC86152. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 4. Checksum: 3370457AB4238DC0	FASTA	1,257	144,756
	10 20 30 40 50 60 MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR 70 80 90 100 110 120 QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA 130 140 150 160 170 180 VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ 190 200 210 220 230 240 LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT 250 260 270 280 290 300 FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK 310 320 330 340 350 360 EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM 370 380 390 400 410 420 HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL 430 440 450 460 470 480 GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP 490 500 510 520 530 540 KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN 550 560 570 580 590 600 CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF 610 620 630 640 650 660 SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS 670 680 690 700 710 720 DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV 730 740 750 760 770 780 SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD 790 800 810 820 830 840 PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA 850 860 870 880 890 900 KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW 910 920 930 940 950 960 PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP 970 980 990 1000 1010 1020 DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG 1030 1040 1050 1060 1070 1080 KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD 1090 1100 1110 1120 1130 1140 KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP 1150 1160 1170 1180 1190 1200 LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL 1210 1220 1230 1240 1250 QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST
	Isoform 2 [UniParc]. Checksum: 5C26F7B38708E92C	FASTA	1,298	149,428
	10 20 30 40 50 60 MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR 70 80 90 100 110 120 QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA 130 140 150 160 170 180 VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ 190 200 210 220 230 240 LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT 250 260 270 280 290 300 FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK 310 320 330 340 350 360 EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM 370 380 390 400 410 420 HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL 430 440 450 460 470 480 GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP 490 500 510 520 530 540 KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN 550 560 570 580 590 600 CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF 610 620 630 640 650 660 SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS 670 680 690 700 710 720 DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV 730 740 750 760 770 780 SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD 790 800 810 820 830 840 PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA 850 860 870 880 890 900 KIRSLFNYEQ SHIFGLRLLS VICCDLDTLL LLEAQYQVSE MLLNAQEENI LEISESHRDF 910 920 930 940 950 960 IIDGLSVERN HVLVRINLVG GPLERILPPR LLEKSDNPYP WPMFSSYPLP NCYLSDITRN 970 980 990 1000 1010 1020 AGIKQDNDLD KLLLCLKISD KQTEWIENCQ RQFCKMMKAK PDIISGEALI ELLEKFVLHL 1030 1040 1050 1060 1070 1080 TESPSECYFP SVEYTATDAN VKNESLSSVQ QLGIKMTVRY GKFLSLLKDG AENDLTWVLK 1090 1100 1110 1120 1130 1140 HCERFLKQQQ TSIKSSLLCL QGNYAGHDWF VSSLFMIMLG DKEKTFQFLH QFSRLLTSAF 1150 1160 1170 1180 1190 1200 LWLPRLHISS YLPNDTVESG IHPVYFCSTH YIEMLLKAEL PLVFSAFHMS GFAPSQICLQ 1210 1220 1230 1240 1250 1260 WITQCFWNYL DWIEICHYIA TCVFLGPDYQ VYICIAVFKH LQQDILQHTQ TQDLQVFLKE 1270 1280 1290 EALHGFRVSD YFEYMEILEQ NYRTVLLRDM RNIRLQST
	Isoform 3 [UniParc]. Checksum: 36820D1BD1936EB6	FASTA	108	12,529
	10 20 30 40 50 60 MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR 70 80 90 100 QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKELP

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 408-1257 (ISOFORM 2), VARIANTS GLN-82 AND LYS-375. Tissue: Brain and Testis.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK055461 mRNA. Translation: BAB70925.1. Frameshift. AK091554 mRNA. Translation: BAC03694.1. Sequence problems. AK125385 mRNA. Translation: BAC86152.1. Different initiation. AK131446 mRNA. Translation: BAD18591.1. Sequence problems. AL365508 , AL035593, AL589910, AL590225 Genomic DNA. Translation: CAI13226.2. AL590225 , AL035593, AL365508, AL589910 Genomic DNA. Translation: CAI13628.2. AL589910 , AL035593, AL139098, AL365508, AL590225 Genomic DNA. Translation: CAI16051.2. Sequence problems. AL139098 , AL035593, AL365508, AL589910, AL590225 Genomic DNA. Translation: CAI20000.2. Sequence problems. AL035593 , AL365508, AL589910, AL590225 Genomic DNA. Translation: CAI20139.2. AL365508 , AL035593, AL139098, AL589910, AL590225 Genomic DNA. Translation: CAM16339.1. Sequence problems. AL590225 , AL035593, AL139098, AL365508, AL589910 Genomic DNA. Translation: CAM17813.1. Sequence problems. AL589910 , AL035593, AL365508, AL590225 Genomic DNA. Translation: CAM22453.1. AL035593 , AL139098, AL365508, AL589910, AL590225 Genomic DNA. Translation: CAM28224.1. Sequence problems.
IPI	IPI00253835. IPI00465188. IPI01010796.
RefSeq	NP_689943.4. NM_152730.4.
UniGene	Hs.121396.
3D structure databases
ProteinModelPortal	Q96NH3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96NH3. 1 interaction.
STRING	9606.ENSP00000357449.
PTM databases
PhosphoSite	Q96NH3.
Polymorphism databases
DMDM	296439461.
Proteomic databases
PaxDb	Q96NH3.
PRIDE	Q96NH3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000275159; ENSP00000275159; ENSG00000146350. ENST00000398212; ENSP00000381270; ENSG00000146350. ENST00000464622; ENSP00000428839; ENSG00000146350.
GeneID	221322.
KEGG	hsa:221322.
UCSC	uc003pyo.1. human.
Organism-specific databases
CTD	221322.
GeneCards	GC06M121400.
HGNC	HGNC:21485. C6orf170.
HPA	HPA013413.
neXtProt	NX_Q96NH3.
PharmGKB	PA134871908.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG74284.
HOGENOM	HOG000111575.
HOVERGEN	HBG087600.
OMA	FKKWMHA.
Gene expression databases
ArrayExpress	Q96NH3.
Bgee	Q96NH3.
CleanEx	HS_C6orf170.
Genevestigator	Q96NH3.
GermOnline	ENSG00000146350. Homo sapiens.
Family and domain databases
InterPro	IPR000195. Rab-GTPase-TBC_dom. IPR005373. UPF0183. [Graphical view]
PANTHER	PTHR13465. PTHR13465. 1 hit.
SUPFAM	SSF47923. RabGAP_TBC. 1 hit.
PROSITE	PS50086. TBC_RABGAP. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	C6orf170. human.
GenomeRNAi	221322.
NextBio	91289.

Entry information

Entry name

BROMI_HUMAN

Accession

Primary (citable) accession number: Q96NH3
Secondary accession number(s): Q5SZD6 , Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	May 18, 2010
Last modified:	April 3, 2013
This is version 82 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.