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Q96NH3 (BROMI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein broad-minded
Alternative name(s):
TBC1 domain family member 32
Gene names
Name:TBC1D32
Synonyms:BROMI, C6orf170, C6orf171
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1257 AA.
Sequence statusComplete.
Protein existenceEvidence 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 projectioncilium 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 componentCell projection
Cilium
Cytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmulticellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcilium

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRab 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12571257Protein broad-minded
PRO_0000089557

Regions

Domain1119 – 1242124Rab-GAP TBC

Natural variations

Alternative sequence106 – 1083EYK → ELP in isoform 3.
VSP_035579
Alternative sequence109 – 12571149Missing in isoform 3.
VSP_035580
Alternative sequence8571R → RLLSVICCDLDTLLLLEAQY QVSEMLLNAQEENILEISES HR in isoform 2.
VSP_014546
Natural variant821R → Q. Ref.1
Corresponds to variant rs7767455 [ dbSNP | Ensembl ].
VAR_046958
Natural variant2801I → V.
Corresponds to variant rs9490157 [ dbSNP | Ensembl ].
VAR_046959
Natural variant3751T → K. Ref.1
Corresponds to variant rs9387944 [ dbSNP | Ensembl ].
VAR_046960
Natural variant5991I → V.
Corresponds to variant rs7745023 [ dbSNP | Ensembl ].
VAR_046961

Experimental info

Sequence conflict5541A → V in BAC86152. Ref.1
Sequence conflict9061Y → H in BAC03694. Ref.1
Sequence conflict12101T → A in BAC86152. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 4.
Checksum: 3370457AB4238DC0

FASTA1,257144,756
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 5C26F7B38708E92C
Show »

FASTA1,298149,428
Isoform 3 [UniParc].

Checksum: 36820D1BD1936EB6
Show »

FASTA10812,529

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. expand/collapse author list , 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. expand/collapse author list , 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 expand/collapse EMBL AC list , AL035593, AL589910, AL590225 Genomic DNA. Translation: CAI13226.2.
AL590225 expand/collapse EMBL AC list , AL035593, AL365508, AL589910 Genomic DNA. Translation: CAI13628.2.
AL589910 expand/collapse EMBL AC list , AL035593, AL139098, AL365508, AL590225 Genomic DNA. Translation: CAI16051.2. Sequence problems.
AL139098 expand/collapse EMBL AC list , AL035593, AL365508, AL589910, AL590225 Genomic DNA. Translation: CAI20000.2. Sequence problems.
AL035593 expand/collapse EMBL AC list , AL365508, AL589910, AL590225 Genomic DNA. Translation: CAI20139.2.
AL365508 expand/collapse EMBL AC list , AL035593, AL139098, AL589910, AL590225 Genomic DNA. Translation: CAM16339.1. Sequence problems.
AL590225 expand/collapse EMBL AC list , AL035593, AL139098, AL365508, AL589910 Genomic DNA. Translation: CAM17813.1. Sequence problems.
AL589910 expand/collapse EMBL AC list , AL035593, AL365508, AL590225 Genomic DNA. Translation: CAM22453.1.
AL035593 expand/collapse EMBL AC list , AL139098, AL365508, AL589910, AL590225 Genomic DNA. Translation: CAM28224.1. Sequence problems.
RefSeqNP_689943.4. NM_152730.5.
XP_005266918.1. XM_005266861.2.
UniGeneHs.121396.

3D structure databases

ProteinModelPortalQ96NH3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128710. 2 interactions.
IntActQ96NH3. 1 interaction.
STRING9606.ENSP00000357449.

PTM databases

PhosphoSiteQ96NH3.

Polymorphism databases

DMDM296439461.

Proteomic databases

PaxDbQ96NH3.
PRIDEQ96NH3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275159; ENSP00000275159; ENSG00000146350. [Q96NH3-4]
ENST00000398212; ENSP00000381270; ENSG00000146350. [Q96NH3-1]
ENST00000464622; ENSP00000428839; ENSG00000146350. [Q96NH3-5]
GeneID221322.
KEGGhsa:221322.
UCSCuc003pyo.1. human. [Q96NH3-1]

Organism-specific databases

CTD221322.
GeneCardsGC06M121401.
HGNCHGNC:21485. TBC1D32.
HPAHPA013413.
neXtProtNX_Q96NH3.
PharmGKBPA134871908.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG74284.
HOGENOMHOG000111575.
HOVERGENHBG087600.
OMAKKWMHAY.
OrthoDBEOG7H1JJR.
PhylomeDBQ96NH3.
TreeFamTF329092.

Gene expression databases

ArrayExpressQ96NH3.
BgeeQ96NH3.
CleanExHS_C6orf170.
GenevestigatorQ96NH3.

Family and domain databases

InterProIPR000195. Rab-GTPase-TBC_dom.
IPR005373. UPF0183.
[Graphical view]
PANTHERPTHR13465. PTHR13465. 1 hit.
SUPFAMSSF47923. SSF47923. 1 hit.
ProtoNetSearch...

Other

ChiTaRSC6orf170. human.
GenomeRNAi221322.
NextBio91289.

Entry information

Entry nameBROMI_HUMAN
AccessionPrimary (citable) accession number: Q96NH3
Secondary accession number(s): Q5SZD6 expand/collapse secondary AC list , Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 90 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM