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Q96NH3

- BROMI_HUMAN

UniProt

Q96NH3 - BROMI_HUMAN

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Protein

Protein broad-minded

Gene
TBC1D32, BROMI, C6orf170, C6orf171
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  1. Rab GTPase activator activity Source: InterPro

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Protein broad-minded
Alternative name(s):
TBC1 domain family member 32
Gene namesi
Name:TBC1D32
Synonyms:BROMI, C6orf170, C6orf171
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21485. TBC1D32.

Subcellular locationi

Cytoplasm By similarity. Cell projectioncilium By similarity

GO - Cellular componenti

  1. cilium Source: UniProtKB-SubCell
  2. cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134871908.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12571257Protein broad-mindedPRO_0000089557Add
BLAST

Proteomic databases

PaxDbiQ96NH3.
PRIDEiQ96NH3.

PTM databases

PhosphoSiteiQ96NH3.

Expressioni

Gene expression databases

ArrayExpressiQ96NH3.
BgeeiQ96NH3.
CleanExiHS_C6orf170.
GenevestigatoriQ96NH3.

Organism-specific databases

HPAiHPA013413.

Interactioni

Subunit structurei

Interacts with CDK20, which promotes CDK20 stability and function By similarity.

Protein-protein interaction databases

BioGridi128710. 2 interactions.
IntActiQ96NH3. 1 interaction.
STRINGi9606.ENSP00000357449.

Structurei

3D structure databases

ProteinModelPortaliQ96NH3.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1119 – 1242124Rab-GAP TBCAdd
BLAST

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.

Phylogenomic databases

eggNOGiNOG74284.
HOGENOMiHOG000111575.
HOVERGENiHBG087600.
OMAiKKWMHAY.
OrthoDBiEOG7H1JJR.
PhylomeDBiQ96NH3.
TreeFamiTF329092.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR005373. UPF0183.
[Graphical view]
PANTHERiPTHR13465. PTHR13465. 1 hit.
SUPFAMiSSF47923. SSF47923. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96NH3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF     50
HNYEFVKYLR QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR 100
TQESKEYKEM MHYLKNIMIA VVESMINKFE EDETRNQERQ KKIQKEKSHS 150
YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ LDPGQPKEVR YEALQTLCSA 200
PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT FLLSPLHMTK 250
EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK 300
EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD 350
TKAVWFKKWM HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA 400
DETLGHSKHC RNKQKTFYYL GQELQYIYFI HSLCLLGRLL IYKQGRKLFP 450
IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP KMTSAAHSEN YSPASMVTEV 500
LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN CSETALIHIA 550
GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF 600
SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS 650
ERIPTPVEGS DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT 700
GAINECVTFI FNRYAKKLQV SRHKKFGYGV LVTRVASTAA GGIALKKSGF 750
INELITELWS NLEYGRDDVR VTHPRTTPVD PIDRSCQKSF LALVNLLSYP 800
AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA KIRSLFNYEQ 850
SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW 900
PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR 950
QFCKMMKAKP DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV 1000
KNESLSSVQQ LGIKMTVRYG KFLSLLKDGA ENDLTWVLKH CERFLKQQQT 1050
SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD KEKTFQFLHQ FSRLLTSAFL 1100
WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP LVFSAFHMSG 1150
FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL 1200
QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR 1250
NIRLQST 1257

Note: No experimental confirmation available.

Length:1,257
Mass (Da):144,756
Last modified:May 18, 2010 - v4
Checksum:i3370457AB4238DC0
GO
Isoform 2 (identifier: Q96NH3-4) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:1,298
Mass (Da):149,428
Checksum:i5C26F7B38708E92C
GO
Isoform 3 (identifier: Q96NH3-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:108
Mass (Da):12,529
Checksum:i36820D1BD1936EB6
GO

Sequence cautioni

The sequence BAC03694.1 differs from that shown. Reason: Aberrant splicing.
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 BAC86152.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti82 – 821R → Q.1 Publication
Corresponds to variant rs7767455 [ dbSNP | Ensembl ].
VAR_046958
Natural varianti280 – 2801I → V.
Corresponds to variant rs9490157 [ dbSNP | Ensembl ].
VAR_046959
Natural varianti375 – 3751T → K.1 Publication
Corresponds to variant rs9387944 [ dbSNP | Ensembl ].
VAR_046960
Natural varianti599 – 5991I → V.
Corresponds to variant rs7745023 [ dbSNP | Ensembl ].
VAR_046961

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei106 – 1083EYK → ELP in isoform 3. VSP_035579
Alternative sequencei109 – 12571149Missing in isoform 3. VSP_035580Add
BLAST
Alternative sequencei857 – 8571R → RLLSVICCDLDTLLLLEAQY QVSEMLLNAQEENILEISES HR in isoform 2. VSP_014546

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti554 – 5541A → V in BAC86152. 1 Publication
Sequence conflicti906 – 9061Y → H in BAC03694. 1 Publication
Sequence conflicti1210 – 12101T → A in BAC86152. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS43501.1. [Q96NH3-1]
RefSeqiNP_689943.4. NM_152730.5. [Q96NH3-1]
XP_005266918.1. XM_005266861.2. [Q96NH3-4]
UniGeneiHs.121396.

Genome annotation databases

EnsembliENST00000275159; ENSP00000275159; ENSG00000146350. [Q96NH3-4]
ENST00000398212; ENSP00000381270; ENSG00000146350. [Q96NH3-1]
ENST00000464622; ENSP00000428839; ENSG00000146350. [Q96NH3-5]
GeneIDi221322.
KEGGihsa:221322.
UCSCiuc003pyo.1. human. [Q96NH3-1]

Polymorphism databases

DMDMi296439461.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS43501.1. [Q96NH3-1 ]
RefSeqi NP_689943.4. NM_152730.5. [Q96NH3-1 ]
XP_005266918.1. XM_005266861.2. [Q96NH3-4 ]
UniGenei Hs.121396.

3D structure databases

ProteinModelPortali Q96NH3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128710. 2 interactions.
IntActi Q96NH3. 1 interaction.
STRINGi 9606.ENSP00000357449.

PTM databases

PhosphoSitei Q96NH3.

Polymorphism databases

DMDMi 296439461.

Proteomic databases

PaxDbi Q96NH3.
PRIDEi Q96NH3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000275159 ; ENSP00000275159 ; ENSG00000146350 . [Q96NH3-4 ]
ENST00000398212 ; ENSP00000381270 ; ENSG00000146350 . [Q96NH3-1 ]
ENST00000464622 ; ENSP00000428839 ; ENSG00000146350 . [Q96NH3-5 ]
GeneIDi 221322.
KEGGi hsa:221322.
UCSCi uc003pyo.1. human. [Q96NH3-1 ]

Organism-specific databases

CTDi 221322.
GeneCardsi GC06M121401.
HGNCi HGNC:21485. TBC1D32.
HPAi HPA013413.
neXtProti NX_Q96NH3.
PharmGKBi PA134871908.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG74284.
HOGENOMi HOG000111575.
HOVERGENi HBG087600.
OMAi KKWMHAY.
OrthoDBi EOG7H1JJR.
PhylomeDBi Q96NH3.
TreeFami TF329092.

Miscellaneous databases

ChiTaRSi C6orf170. human.
GenomeRNAii 221322.
NextBioi 91289.

Gene expression databases

ArrayExpressi Q96NH3.
Bgeei Q96NH3.
CleanExi HS_C6orf170.
Genevestigatori Q96NH3.

Family and domain databases

InterProi IPR000195. Rab-GTPase-TBC_dom.
IPR005373. UPF0183.
[Graphical view ]
PANTHERi PTHR13465. PTHR13465. 1 hit.
SUPFAMi SSF47923. SSF47923. 1 hit.
ProtoNeti Search...

Publicationsi

  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].

Entry informationi

Entry nameiBROMI_HUMAN
AccessioniPrimary (citable) accession number: Q96NH3
Secondary accession number(s): Q5SZD6
, Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 92 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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