Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8N6Y0 (USBP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:USHBP1
Synonyms:AIEBP, MCC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length703 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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

Tissue specificity

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

Sequence similarities

Belongs to the MCC family.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.1 Ref.2 Ref.3 (identifier: Q8N6Y0-1)

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.
Isoform 2 Ref.1 (identifier: Q8N6Y0-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 703703Usher syndrome type-1C protein-binding protein 1
PRO_0000252109

Regions

Coiled coil189 – 22739 Potential
Coiled coil289 – 30921 Potential
Coiled coil476 – 51338 Potential
Coiled coil596 – 68186 Potential

Natural variations

Alternative sequence69 – 703635Missing in isoform 2. Ref.1
VSP_052080
Natural variant4391M → V. Ref.1
Corresponds to variant rs9676419 [ dbSNP | Ensembl ].
VAR_027753
Natural variant5251V → M.
Corresponds to variant rs12459398 [ dbSNP | Ensembl ].
VAR_027754
Natural variant6771A → V.
Corresponds to variant rs1043963 [ dbSNP | Ensembl ].
VAR_051481

Experimental info

Sequence conflict2331H → R in BAF84720. Ref.2
Sequence conflict4001A → T in BAB41203. Ref.1
Sequence conflict4541T → I in BAB41203. Ref.1
Sequence conflict5721G → D in BAG37666. Ref.2
Sequence conflict5861D → G in BAC11443. Ref.3
Sequence conflict6331N → S in BAC11443. Ref.3

Sequences

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

Last modified October 1, 2002. Version 1.
Checksum: 75BD22E490DC1467

FASTA70376,068
        10         20         30         40         50         60 
MSARATRPRS RRGRHAPPGE LDPVAESSEE VEAASGSSKP SFAPPPVSSG LEQLGPMEEV 

        70         80         90        100        110        120 
SGQGLGSRTD KKMDGGSGRE LASAPEVPHK PAVEAHQAPE AALQYKETVP PGNGAPDVFQ 

       130        140        150        160        170        180 
TLQHTLSSLE AAAAAWRHQP PSHSGPMEFE GTSEGGAGSL GKQEGAGSCQ REAARLAERN 

       190        200        210        220        230        240 
AWLRLALSSR EDELVRTQAS LEAIRAEKET LQKEVQELQD SLLRLEPCPH LSHNQAGGSG 

       250        260        270        280        290        300 
SGSSSSEADR EPWETQDSFS LAHPLLRRLR SHSSTQILGS LPNQPLSPEM HIMEAQMEQL 

       310        320        330        340        350        360 
RGSIEKLKCF NRLLSAVLQG YKGRCEGLSM QLGQREAEAT ALHLALQYSE HCEEAYRVLL 

       370        380        390        400        410        420 
ALREADSGAG DEAPMSDLQA AEKEAWRLLA QEEAAMDAGA QQNPQPSPEG SSVDKPTPQE 

       430        440        450        460        470        480 
VAFQLRSYVQ RLQERRSLMK ILSEPGPTLA PMPTVPRAEA MVQAILGTQA GPALPRLEKT 

       490        500        510        520        530        540 
QIQQDLVAAR EALADLMLRL QLVRREKRGL ELREAALRAL GPAHVLLLEQ LRWERAELQA 

       550        560        570        580        590        600 
GGANSSGGHS SGGGSSGDEE EWYQGLPAVP GGTSGIDGGQ VGRAWDPEKL AQELAASLTR 

       610        620        630        640        650        660 
TLDLQEQLQS LRRELEQVAQ KGRARRSQSA ELNRDLCKAH SALVLAFRGA HRKQEEQRRK 

       670        680        690        700 
LEQQMALMEA QQAEEVAVLE ATARALGKPR PPLPPPQLGD TFL 

« Hide

Isoform 2 [UniParc].

Checksum: 162E3F97D473E257
Show »

FASTA687,014

References

« Hide 'large scale' references
[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: Kidney and Placenta.
[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. 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 1).
Tissue: Placenta 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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS12353.1. [Q8N6Y0-1]
RefSeqNP_114147.2. NM_031941.3. [Q8N6Y0-1]
XP_005260150.1. XM_005260093.1. [Q8N6Y0-1]
UniGeneHs.512773.

3D structure databases

ProteinModelPortalQ8N6Y0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123791. 38 interactions.
IntActQ8N6Y0. 43 interactions.
MINTMINT-196946.
STRING9606.ENSP00000252597.

PTM databases

PhosphoSiteQ8N6Y0.

Polymorphism databases

DMDM74729194.

Proteomic databases

PaxDbQ8N6Y0.
PRIDEQ8N6Y0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252597; ENSP00000252597; ENSG00000130307. [Q8N6Y0-1]
ENST00000597928; ENSP00000469562; ENSG00000130307. [Q8N6Y0-2]
GeneID83878.
KEGGhsa:83878.
UCSCuc002nfs.1. human. [Q8N6Y0-1]

Organism-specific databases

CTD83878.
GeneCardsGC19M017360.
H-InvDBHIX0014884.
HGNCHGNC:24058. USHBP1.
HPAHPA052471.
MIM611810. gene.
neXtProtNX_Q8N6Y0.
PharmGKBPA134909077.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27359.
HOGENOMHOG000154800.
HOVERGENHBG082552.
InParanoidQ8N6Y0.
OMAYKGRCEG.
OrthoDBEOG7F511Q.
PhylomeDBQ8N6Y0.
TreeFamTF105384.

Gene expression databases

ArrayExpressQ8N6Y0.
BgeeQ8N6Y0.
CleanExHS_USHBP1.
GenevestigatorQ8N6Y0.

Family and domain databases

InterProIPR019536. USH1C-bd_PDZ_domain.
[Graphical view]
PfamPF10506. MCC-bdg_PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi83878.
NextBio35464446.
PROQ8N6Y0.
SOURCESearch...

Entry information

Entry nameUSBP1_HUMAN
AccessionPrimary (citable) accession number: Q8N6Y0
Secondary accession number(s): A8K7L6 expand/collapse secondary AC list , B2RCR9, Q8NBX7, Q96KH3, Q9BYI8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 85 of the entry and version 1 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 19

Human chromosome 19: entries, gene names and cross-references to MIM