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Protein

Usher syndrome type-1C protein-binding protein 1

Gene

USHBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:24058. USHBP1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134909077.

Polymorphism and mutation databases

BioMutaiUSHBP1.
DMDMi74729194.

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
Q8N9J23EBI-739895,EBI-10268244
AKAP9Q99996-23EBI-739895,EBI-9641546
ANKRD36BP1Q96IX93EBI-739895,EBI-744859
ARFIP2P533653EBI-739895,EBI-638194
ATP5OP480473EBI-739895,EBI-355815
BET1O151552EBI-739895,EBI-749204
C1orf109Q9NX043EBI-739895,EBI-8643161
C1orf216Q8TAB54EBI-739895,EBI-747505
C6orf165Q8IYR03EBI-739895,EBI-749051
CCDC116Q8IYX33EBI-739895,EBI-744311
CCDC120Q96HB5-43EBI-739895,EBI-10185348
CCDC121Q6ZUS53EBI-739895,EBI-2836982
CCDC146Q8IYE0-23EBI-739895,EBI-10247802
CCDC148Q8NFR73EBI-739895,EBI-2349862
CCDC22O608263EBI-739895,EBI-3943153
CCDC24Q8N4L83EBI-739895,EBI-1104933
CCDC87Q9NVE43EBI-739895,EBI-749261
CCHCR1Q8TD31-33EBI-739895,EBI-10175300
CENPPQ6IPU03EBI-739895,EBI-10250303
CEP68Q76N323EBI-739895,EBI-9051024
CNNM3Q8NE01-33EBI-739895,EBI-10269984
COPS4Q9BT784EBI-739895,EBI-742413
COPS8Q996273EBI-739895,EBI-2510102
CTNNBIP1Q9NSA33EBI-739895,EBI-747082
CTTNBP2NLQ9P2B43EBI-739895,EBI-1774273
DKFZp451B226Q5HYH73EBI-739895,EBI-10173842
DTNBO609413EBI-739895,EBI-740402
DYDC1Q8WWB34EBI-739895,EBI-740680
EIF4E2O605733EBI-739895,EBI-398610
ERCC1P079923EBI-739895,EBI-750962
EXOC8Q8IYI62EBI-739895,EBI-742102
FAM107AO95990-33EBI-739895,EBI-10192902
FAM110AQ9BQ893EBI-739895,EBI-1752811
FAM124BQ9H5Z63EBI-739895,EBI-741626
FBF1Q8TES7-63EBI-739895,EBI-10244131
FTLP027923EBI-739895,EBI-713279
GATAD2BQ8WXI93EBI-739895,EBI-923440
GMCL1P1Q8NEA93EBI-739895,EBI-745707
GNG4B1APZ03EBI-739895,EBI-10175453
GOLGA8DPQ0D2H93EBI-739895,EBI-10181276
GOLGA8GQ08AF83EBI-739895,EBI-10181260
GPSM3Q9Y4H43EBI-739895,EBI-347538
HAUS1Q96CS23EBI-739895,EBI-2514791
IFT20Q8IY313EBI-739895,EBI-744203
IMP3Q9NV313EBI-739895,EBI-747481
INTS4Q96HW73EBI-739895,EBI-5663129
KIAA0753Q2KHM93EBI-739895,EBI-2805604
KLC4Q9NSK03EBI-739895,EBI-949319
KLHL38Q2WGJ63EBI-739895,EBI-6426443
KPNA2Q6NVW73EBI-739895,EBI-9377406
KRT20P359003EBI-739895,EBI-742094
KRT31Q153233EBI-739895,EBI-948001
KRT38O760153EBI-739895,EBI-1047263
KRT40Q6A1623EBI-739895,EBI-10171697
KRT79Q5XKE53EBI-739895,EBI-2514135
LENG1Q96BZ83EBI-739895,EBI-726510
LINC00526Q96FQ73EBI-739895,EBI-10286106
MAGEB4O154813EBI-739895,EBI-751857
MCM7P339933EBI-739895,EBI-355924
MCRS1Q96EZ83EBI-739895,EBI-348259
MED4Q9NPJ63EBI-739895,EBI-394607
MOSP005403EBI-739895,EBI-1757866
MRPS23Q9Y3D93EBI-739895,EBI-1054270
NCAPH2Q6IBW4-43EBI-739895,EBI-10247000
NGFRAP1Q009943EBI-739895,EBI-741753
NOC4LQ9BVI42EBI-739895,EBI-395927
PARVGQ9HBI03EBI-739895,EBI-3921217
PMF1Q6P1K23EBI-739895,EBI-713832
PPP1R7Q154353EBI-739895,EBI-1024281
PPP2R5DQ147383EBI-739895,EBI-396563
PRKAA2P546463EBI-739895,EBI-1383852
RASAL2Q9UJF23EBI-739895,EBI-359444
RECKQ6P9E23EBI-739895,EBI-10253121
RNF20Q5VTR23EBI-739895,EBI-2372238
SEC14L4Q9UDX33EBI-739895,EBI-10320311
SERTAD3Q9UJW94EBI-739895,EBI-748621
SH2D4AQ9H788-23EBI-739895,EBI-10308083
SMARCE1Q969G33EBI-739895,EBI-455078
STX11O755583EBI-739895,EBI-714135
SYNJ2BPP571053EBI-739895,EBI-1049004
THADAQ6YHU63EBI-739895,EBI-2824523
THOC1Q96FV93EBI-739895,EBI-1765605
TRIM54Q9BYV23EBI-739895,EBI-2130429
TSG101Q998163EBI-739895,EBI-346882
TXLNAP402223EBI-739895,EBI-359793
UBE2WQ96B023EBI-739895,EBI-716589
UBE2WQ96FI03EBI-739895,EBI-10285774
UBXN11Q5T1243EBI-739895,EBI-746004
VPS28Q548N13EBI-739895,EBI-10243107
VPS28Q9UK413EBI-739895,EBI-727424
ZFYVE26Q96H433EBI-739895,EBI-10286915
ZNF483Q6P0883EBI-739895,EBI-10196963
ZNF765Q7L2R63EBI-739895,EBI-9676069

Protein-protein interaction databases

BioGridi123791. 125 interactions.
IntActiQ8N6Y0. 128 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.
OMAiGYKGRCE.
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. AlignAdd to basket

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. Curated

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:
EMBLi
GenBanki
DDBJi
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_001284632.1. NM_001297703.1.
NP_114147.2. NM_031941.3. [Q8N6Y0-1]
XP_005260150.1. XM_005260093.2. [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 and mutation databases

BioMutaiUSHBP1.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001284632.1. NM_001297703.1.
NP_114147.2. NM_031941.3. [Q8N6Y0-1]
XP_005260150.1. XM_005260093.2. [Q8N6Y0-1]
UniGeneiHs.512773.

3D structure databases

ProteinModelPortaliQ8N6Y0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123791. 125 interactions.
IntActiQ8N6Y0. 128 interactions.
MINTiMINT-196946.
STRINGi9606.ENSP00000252597.

PTM databases

PhosphoSiteiQ8N6Y0.

Polymorphism and mutation databases

BioMutaiUSHBP1.
DMDMi74729194.

Proteomic databases

PaxDbiQ8N6Y0.
PRIDEiQ8N6Y0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi83878.
GeneCardsiGC19M017360.
H-InvDBHIX0014884.
HGNCiHGNC:24058. USHBP1.
HPAiHPA052471.
MIMi611810. gene.
neXtProtiNX_Q8N6Y0.
PharmGKBiPA134909077.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii83878.
NextBioi35464446.
PROiQ8N6Y0.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

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

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: April 29, 2015
This is version 91 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

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 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.