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Protein

BTB/POZ domain-containing protein 19

Gene

BTBD19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 19
Gene namesi
Name:BTBD19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:27145. BTBD19.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165750488.

Polymorphism and mutation databases

BioMutaiBTBD19.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 291291BTB/POZ domain-containing protein 19PRO_0000394239Add
BLAST

Proteomic databases

PaxDbiC9JJ37.
PeptideAtlasiC9JJ37.
PRIDEiC9JJ37.

Expressioni

Gene expression databases

BgeeiC9JJ37.
ExpressionAtlasiC9JJ37. baseline and differential.

Organism-specific databases

HPAiHPA042633.

Structurei

3D structure databases

ProteinModelPortaliC9JJ37.
SMRiC9JJ37. Positions 19-261.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 9870BTBPROSITE-ProRule annotationAdd
BLAST
Domaini134 – 234101BACKAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi272 – 2754Poly-Arg

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4350. Eukaryota.
ENOG410Z7D9. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000294137.
HOVERGENiHBG104218.
InParanoidiC9JJ37.
OMAiRCIAFIE.
OrthoDBiEOG7Z3F5W.
PhylomeDBiC9JJ37.
TreeFamiTF330633.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: C9JJ37-1) [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

        10         20         30         40         50
MEPLGLVVHG KAEPFSAALR SLVNNPRYSD VCFVVGQERQ EVFAHRCLLA
60 70 80 90 100
CRCNFFQRLL GTEPGPGVPS PVVLSTVPTE AFLAVLEFLY TNSVKLYRHS
110 120 130 140 150
VLEVLTAAVE YGLEELRELC LQFVVKVLDV DLVCEALQVA VTFGLGQLQE
160 170 180 190 200
RCVAFIEAHS QEALRTRGFL ELSAAALLPL LRSDKLCVDE AELVRAARSW
210 220 230 240 250
ARVGAAVLER PVAEVAAPVV KELRLALLAP AELSALEEQN RQEPLIPVEQ
260 270 280 290
IVEAWKCHAL RRGDEARGAP CRRRRGTLPR EHHRFLDLSF K
Length:291
Mass (Da):32,365
Last modified:November 3, 2009 - v1
Checksum:i7105A23F9C2FCF62
GO
Isoform 2 (identifier: C9JJ37-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-291: VAVTFGLGQL...HHRFLDLSFK → HFWRPRRADQEVRRSRPSWLTRWP

Note: No experimental confirmation available.
Show »
Length:162
Mass (Da):18,496
Checksum:iE5670B4AC412E590
GO

Sequence cautioni

The sequence CAX15036.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15037.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101E → G.
Corresponds to variant rs78531751 [ dbSNP | Ensembl ].
VAR_063157

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei139 – 291153VAVTF…DLSFK → HFWRPRRADQEVRRSRPSWL TRWP in isoform 2. 1 PublicationVSP_039226Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK304611 mRNA. Translation: BAG65396.1.
AL592166 Genomic DNA. Translation: CAX15036.1. Sequence problems.
AL592166 Genomic DNA. Translation: CAX15037.1. Sequence problems.
RefSeqiNP_001130009.1. NM_001136537.1. [C9JJ37-1]
UniGeneiHs.632400.

Genome annotation databases

EnsembliENST00000439563; ENSP00000410162; ENSG00000222009. [C9JJ37-2]
ENST00000450269; ENSP00000395461; ENSG00000222009. [C9JJ37-1]
GeneIDi149478.
KEGGihsa:149478.
UCSCiuc010ole.1. human. [C9JJ37-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK304611 mRNA. Translation: BAG65396.1.
AL592166 Genomic DNA. Translation: CAX15036.1. Sequence problems.
AL592166 Genomic DNA. Translation: CAX15037.1. Sequence problems.
RefSeqiNP_001130009.1. NM_001136537.1. [C9JJ37-1]
UniGeneiHs.632400.

3D structure databases

ProteinModelPortaliC9JJ37.
SMRiC9JJ37. Positions 19-261.
ModBaseiSearch...
MobiDBiSearch...

Polymorphism and mutation databases

BioMutaiBTBD19.

Proteomic databases

PaxDbiC9JJ37.
PeptideAtlasiC9JJ37.
PRIDEiC9JJ37.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000439563; ENSP00000410162; ENSG00000222009. [C9JJ37-2]
ENST00000450269; ENSP00000395461; ENSG00000222009. [C9JJ37-1]
GeneIDi149478.
KEGGihsa:149478.
UCSCiuc010ole.1. human. [C9JJ37-1]

Organism-specific databases

CTDi149478.
GeneCardsiBTBD19.
HGNCiHGNC:27145. BTBD19.
HPAiHPA042633.
neXtProtiNX_C9JJ37.
PharmGKBiPA165750488.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4350. Eukaryota.
ENOG410Z7D9. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000294137.
HOVERGENiHBG104218.
InParanoidiC9JJ37.
OMAiRCIAFIE.
OrthoDBiEOG7Z3F5W.
PhylomeDBiC9JJ37.
TreeFamiTF330633.

Miscellaneous databases

GenomeRNAii149478.
PROiC9JJ37.

Gene expression databases

BgeeiC9JJ37.
ExpressionAtlasiC9JJ37. baseline and differential.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 2).
    Tissue: Uterus.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiBTBDJ_HUMAN
AccessioniPrimary (citable) accession number: C9JJ37
Secondary accession number(s): B4E384, B7ZC36, B7ZC37
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 18, 2010
Last sequence update: November 3, 2009
Last modified: July 6, 2016
This is version 54 of the entry and version 1 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 1
    Human chromosome 1: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.