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Q8N6Y0

- USBP1_HUMAN

UniProt

Q8N6Y0 - USBP1_HUMAN

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Protein

Usher syndrome type-1C protein-binding protein 1

Gene

USHBP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. PDZ domain binding Source: HGNC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Usher syndrome type-1C protein-binding protein 1
Short name:
USH1C-binding protein 1
Alternative name(s):
AIE-75-binding protein
MCC-2
Mutated in colon cancer protein 2
Gene namesi
Name:USHBP1Imported
Synonyms:AIEBPImported, MCC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:24058. USHBP1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134909077.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 703703Usher syndrome type-1C protein-binding protein 1PRO_0000252109Add
BLAST

Proteomic databases

PaxDbiQ8N6Y0.
PRIDEiQ8N6Y0.

PTM databases

PhosphoSiteiQ8N6Y0.

Expressioni

Tissue specificityi

Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung.1 Publication

Gene expression databases

BgeeiQ8N6Y0.
CleanExiHS_USHBP1.
ExpressionAtlasiQ8N6Y0. baseline and differential.
GenevestigatoriQ8N6Y0.

Organism-specific databases

HPAiHPA052471.

Interactioni

Subunit structurei

Interacts via its C-terminus with the first PDZ domain of USH1C.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BET1O151552EBI-739895,EBI-749204
EXOC8Q8IYI62EBI-739895,EBI-742102
NOC4LQ9BVI42EBI-739895,EBI-395927
SERTAD3Q9UJW94EBI-739895,EBI-748621

Protein-protein interaction databases

BioGridi123791. 41 interactions.
IntActiQ8N6Y0. 43 interactions.
MINTiMINT-196946.
STRINGi9606.ENSP00000252597.

Structurei

3D structure databases

ProteinModelPortaliQ8N6Y0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili189 – 22739Sequence AnalysisAdd
BLAST
Coiled coili289 – 30921Sequence AnalysisAdd
BLAST
Coiled coili476 – 51338Sequence AnalysisAdd
BLAST
Coiled coili596 – 68186Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the MCC family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG27359.
GeneTreeiENSGT00530000063974.
HOGENOMiHOG000154800.
HOVERGENiHBG082552.
InParanoidiQ8N6Y0.
OMAiYKGRCEG.
OrthoDBiEOG7F511Q.
PhylomeDBiQ8N6Y0.
TreeFamiTF105384.

Family and domain databases

InterProiIPR019536. USH1C-bd_PDZ_domain.
[Graphical view]
PfamiPF10506. MCC-bdg_PDZ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 13 Publications (identifier: Q8N6Y0-1) [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
MSARATRPRS RRGRHAPPGE LDPVAESSEE VEAASGSSKP SFAPPPVSSG
60 70 80 90 100
LEQLGPMEEV SGQGLGSRTD KKMDGGSGRE LASAPEVPHK PAVEAHQAPE
110 120 130 140 150
AALQYKETVP PGNGAPDVFQ TLQHTLSSLE AAAAAWRHQP PSHSGPMEFE
160 170 180 190 200
GTSEGGAGSL GKQEGAGSCQ REAARLAERN AWLRLALSSR EDELVRTQAS
210 220 230 240 250
LEAIRAEKET LQKEVQELQD SLLRLEPCPH LSHNQAGGSG SGSSSSEADR
260 270 280 290 300
EPWETQDSFS LAHPLLRRLR SHSSTQILGS LPNQPLSPEM HIMEAQMEQL
310 320 330 340 350
RGSIEKLKCF NRLLSAVLQG YKGRCEGLSM QLGQREAEAT ALHLALQYSE
360 370 380 390 400
HCEEAYRVLL ALREADSGAG DEAPMSDLQA AEKEAWRLLA QEEAAMDAGA
410 420 430 440 450
QQNPQPSPEG SSVDKPTPQE VAFQLRSYVQ RLQERRSLMK ILSEPGPTLA
460 470 480 490 500
PMPTVPRAEA MVQAILGTQA GPALPRLEKT QIQQDLVAAR EALADLMLRL
510 520 530 540 550
QLVRREKRGL ELREAALRAL GPAHVLLLEQ LRWERAELQA GGANSSGGHS
560 570 580 590 600
SGGGSSGDEE EWYQGLPAVP GGTSGIDGGQ VGRAWDPEKL AQELAASLTR
610 620 630 640 650
TLDLQEQLQS LRRELEQVAQ KGRARRSQSA ELNRDLCKAH SALVLAFRGA
660 670 680 690 700
HRKQEEQRRK LEQQMALMEA QQAEEVAVLE ATARALGKPR PPLPPPQLGD

TFL
Length:703
Mass (Da):76,068
Last modified:October 1, 2002 - v1
Checksum:i75BD22E490DC1467
GO
Isoform 21 Publication (identifier: Q8N6Y0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-703: Missing.

Note: Due to the retention of an intron in the cDNA leading to a prematurate stop codon.1 Publication

Show »
Length:68
Mass (Da):7,014
Checksum:i162E3F97D473E257
GO

Sequence cautioni

The sequence BAC11443.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti233 – 2331H → R in BAF84720. (PubMed:14702039)Curated
Sequence conflicti400 – 4001A → T in BAB41203. (PubMed:11311560)Curated
Sequence conflicti454 – 4541T → I in BAB41203. (PubMed:11311560)Curated
Sequence conflicti572 – 5721G → D in BAG37666. (PubMed:14702039)Curated
Sequence conflicti586 – 5861D → G in BAC11443. (PubMed:15489334)Curated
Sequence conflicti633 – 6331N → S in BAC11443. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti439 – 4391M → V.1 Publication
Corresponds to variant rs9676419 [ dbSNP | Ensembl ].
VAR_027753
Natural varianti525 – 5251V → M.
Corresponds to variant rs12459398 [ dbSNP | Ensembl ].
VAR_027754
Natural varianti677 – 6771A → V.
Corresponds to variant rs1043963 [ dbSNP | Ensembl ].
VAR_051481

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei69 – 703635Missing in isoform 2. 1 PublicationVSP_052080Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB026290 mRNA. Translation: BAB41203.1.
AB040046 mRNA. Translation: BAB43978.1.
AK075162 mRNA. Translation: BAC11443.1. Different initiation.
AK292031 mRNA. Translation: BAF84720.1.
AK315239 mRNA. Translation: BAG37666.1.
BC027910 mRNA. Translation: AAH27910.1.
CCDSiCCDS12353.1. [Q8N6Y0-1]
RefSeqiNP_114147.2. NM_031941.3. [Q8N6Y0-1]
XP_005260150.1. XM_005260093.1. [Q8N6Y0-1]
UniGeneiHs.512773.

Genome annotation databases

EnsembliENST00000252597; ENSP00000252597; ENSG00000130307. [Q8N6Y0-1]
ENST00000597928; ENSP00000469562; ENSG00000130307. [Q8N6Y0-2]
GeneIDi83878.
KEGGihsa:83878.
UCSCiuc002nfs.1. human. [Q8N6Y0-1]

Polymorphism databases

DMDMi74729194.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB026290 mRNA. Translation: BAB41203.1 .
AB040046 mRNA. Translation: BAB43978.1 .
AK075162 mRNA. Translation: BAC11443.1 . Different initiation.
AK292031 mRNA. Translation: BAF84720.1 .
AK315239 mRNA. Translation: BAG37666.1 .
BC027910 mRNA. Translation: AAH27910.1 .
CCDSi CCDS12353.1. [Q8N6Y0-1 ]
RefSeqi NP_114147.2. NM_031941.3. [Q8N6Y0-1 ]
XP_005260150.1. XM_005260093.1. [Q8N6Y0-1 ]
UniGenei Hs.512773.

3D structure databases

ProteinModelPortali Q8N6Y0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123791. 41 interactions.
IntActi Q8N6Y0. 43 interactions.
MINTi MINT-196946.
STRINGi 9606.ENSP00000252597.

PTM databases

PhosphoSitei Q8N6Y0.

Polymorphism databases

DMDMi 74729194.

Proteomic databases

PaxDbi Q8N6Y0.
PRIDEi Q8N6Y0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252597 ; ENSP00000252597 ; ENSG00000130307 . [Q8N6Y0-1 ]
ENST00000597928 ; ENSP00000469562 ; ENSG00000130307 . [Q8N6Y0-2 ]
GeneIDi 83878.
KEGGi hsa:83878.
UCSCi uc002nfs.1. human. [Q8N6Y0-1 ]

Organism-specific databases

CTDi 83878.
GeneCardsi GC19M017360.
H-InvDB HIX0014884.
HGNCi HGNC:24058. USHBP1.
HPAi HPA052471.
MIMi 611810. gene.
neXtProti NX_Q8N6Y0.
PharmGKBi PA134909077.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27359.
GeneTreei ENSGT00530000063974.
HOGENOMi HOG000154800.
HOVERGENi HBG082552.
InParanoidi Q8N6Y0.
OMAi YKGRCEG.
OrthoDBi EOG7F511Q.
PhylomeDBi Q8N6Y0.
TreeFami TF105384.

Miscellaneous databases

GenomeRNAii 83878.
NextBioi 35464446.
PROi Q8N6Y0.
SOURCEi Search...

Gene expression databases

Bgeei Q8N6Y0.
CleanExi HS_USHBP1.
ExpressionAtlasi Q8N6Y0. baseline and differential.
Genevestigatori Q8N6Y0.

Family and domain databases

InterProi IPR019536. USH1C-bd_PDZ_domain.
[Graphical view ]
Pfami PF10506. MCC-bdg_PDZ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75."
    Ishikawa S., Kobayashi I., Hamada J., Tada M., Hirai A., Furuuchi K., Takahashi Y., Ba Y., Moriuchi T.
    Gene 267:101-110(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH USH1C, TISSUE SPECIFICITY, VARIANT VAL-439.
    Tissue: KidneyImported and PlacentaImported.
  2. "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 1).
    Tissue: PlacentaImported and Spleen.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).

Entry informationi

Entry nameiUSBP1_HUMAN
AccessioniPrimary (citable) accession number: Q8N6Y0
Secondary accession number(s): A8K7L6
, B2RCR9, Q8NBX7, Q96KH3, Q9BYI8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 87 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 19
    Human chromosome 19: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3