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Protein

Usher syndrome type-1C protein-binding protein 1

Gene

USHBP1

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

Functioni

GO - Molecular functioni

  • PDZ domain binding Source: HGNC

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000130307.11
HGNCiHGNC:24058 USHBP1
MIMi611810 gene
neXtProtiNX_Q8N6Y0

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000130307
PharmGKBiPA134909077

Polymorphism and mutation databases

BioMutaiUSHBP1
DMDMi74729194

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002521091 – 703Usher syndrome type-1C protein-binding protein 1Add BLAST703

Proteomic databases

EPDiQ8N6Y0
PaxDbiQ8N6Y0
PeptideAtlasiQ8N6Y0
PRIDEiQ8N6Y0
ProteomicsDBi72246
72247 [Q8N6Y0-2]

PTM databases

iPTMnetiQ8N6Y0
PhosphoSitePlusiQ8N6Y0

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

BgeeiENSG00000130307 Expressed in 118 organ(s), highest expression level in apex of heart
CleanExiHS_USHBP1
ExpressionAtlasiQ8N6Y0 baseline and differential
GenevisibleiQ8N6Y0 HS

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
BEX3Q009945EBI-739895,EBI-741753
BFSP2Q135155EBI-739895,EBI-10229433
C1orf109Q9NX043EBI-739895,EBI-8643161
C1orf216Q8TAB56EBI-739895,EBI-747505
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
CCDC24Q8N4L85EBI-739895,EBI-1104933
CCDC87Q9NVE43EBI-739895,EBI-749261
CCHCR1Q8TD31-37EBI-739895,EBI-10175300
CENPPQ6IPU05EBI-739895,EBI-10250303
CEP68Q76N323EBI-739895,EBI-9051024
CFAP206Q8IYR03EBI-739895,EBI-749051
CNNM3Q8NE01-33EBI-739895,EBI-10269984
COPS4Q9BT787EBI-739895,EBI-742413
COPS8Q996273EBI-739895,EBI-2510102
CTNNBIP1Q9NSA33EBI-739895,EBI-747082
CTTNBP2NLQ9P2B43EBI-739895,EBI-1774273
DTNBO609413EBI-739895,EBI-740402
DYDC1Q8WWB36EBI-739895,EBI-740680
EIF4E2O605733EBI-739895,EBI-398610
ERCC1P079923EBI-739895,EBI-750962
EXOC8Q8IYI64EBI-739895,EBI-742102
FAM107AO95990-33EBI-739895,EBI-10192902
FAM110AQ9BQ895EBI-739895,EBI-1752811
FAM124BQ9H5Z63EBI-739895,EBI-741626
FANCGA0A0S2Z3R23EBI-739895,EBI-16438045
FBF1Q8TES7-63EBI-739895,EBI-10244131
FTLP027923EBI-739895,EBI-713279
GATAD2BQ8WXI93EBI-739895,EBI-923440
GMCL2Q8NEA95EBI-739895,EBI-745707
GNG4B1APZ03EBI-739895,EBI-10175453
GOLGA8DPQ0D2H95EBI-739895,EBI-10181276
GOLGA8GQ08AF83EBI-739895,EBI-10181260
GPSM3Q9Y4H43EBI-739895,EBI-347538
HAUS1Q96CS23EBI-739895,EBI-2514791
HGSO149644EBI-739895,EBI-740220
IFT20Q8IY313EBI-739895,EBI-744203
IMP3Q9NV315EBI-739895,EBI-747481
ING3A0A0C4DG383EBI-739895,EBI-10263367
INTS4Q96HW73EBI-739895,EBI-5663129
KIAA0753Q2KHM93EBI-739895,EBI-2805604
KLC4Q9NSK03EBI-739895,EBI-949319
KLHL38Q2WGJ65EBI-739895,EBI-6426443
KPNA2P522923EBI-739895,EBI-349938
KRT20P359003EBI-739895,EBI-742094
KRT31Q153233EBI-739895,EBI-948001
KRT38O760155EBI-739895,EBI-1047263
KRT40Q6A1623EBI-739895,EBI-10171697
KRT79Q5XKE53EBI-739895,EBI-2514135
LENG1Q96BZ83EBI-739895,EBI-726510
LINC00526Q96FQ73EBI-739895,EBI-10286106
MAGEB4O154815EBI-739895,EBI-751857
MCM7P339933EBI-739895,EBI-355924
MCRS1Q96EZ85EBI-739895,EBI-348259
MED4Q9NPJ65EBI-739895,EBI-394607
MOSP005405EBI-739895,EBI-1757866
MRPS23Q9Y3D93EBI-739895,EBI-1054270
MXI1P50539-43EBI-739895,EBI-16436111
NCAPH2Q6IBW4-43EBI-739895,EBI-10247000
NDC80O147773EBI-739895,EBI-715849
NEFLI6L9F63EBI-739895,EBI-10178578
NOC4LQ9BVI42EBI-739895,EBI-395927
PARVGQ9HBI05EBI-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
SEC14L4Q9UDX35EBI-739895,EBI-10320311
SERTAD3Q9UJW96EBI-739895,EBI-748621
SH2D4AQ9H788-23EBI-739895,EBI-10308083
SMARCD1Q96GM53EBI-739895,EBI-358489
SMARCE1Q969G33EBI-739895,EBI-455078
STX11O755583EBI-739895,EBI-714135
SYNJ2BPP571055EBI-739895,EBI-1049004
THADAQ6YHU63EBI-739895,EBI-2824523
THOC1Q96FV93EBI-739895,EBI-1765605
TRIM54Q9BYV25EBI-739895,EBI-2130429
TSG101Q998163EBI-739895,EBI-346882
TXLNAP402225EBI-739895,EBI-359793
TXLNBQ8N3L35EBI-739895,EBI-6116822
UBE2WQ96B023EBI-739895,EBI-716589
UBE2WQ96FI03EBI-739895,EBI-10285774
UBXN11Q5T1243EBI-739895,EBI-746004
VPS28Q548N13EBI-739895,EBI-10243107
VPS28Q9UK416EBI-739895,EBI-727424
WHAMMP3Q1A5X74EBI-739895,EBI-11956783
ZFYVE26Q68DK2-55EBI-739895,EBI-8656416
ZNF483Q6P0883EBI-739895,EBI-10196963
ZNF688A0A0S2Z5X43EBI-739895,EBI-16429014
ZNF688A0A0S2Z6P03EBI-739895,EBI-16429989
ZNF765Q7L2R63EBI-739895,EBI-9676069

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123791, 141 interactors
IntActiQ8N6Y0, 244 interactors
MINTiQ8N6Y0
STRINGi9606.ENSP00000252597

Structurei

3D structure databases

ProteinModelPortaliQ8N6Y0
SMRiQ8N6Y0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili189 – 227Sequence analysisAdd BLAST39
Coiled coili289 – 309Sequence analysisAdd BLAST21
Coiled coili476 – 513Sequence analysisAdd BLAST38
Coiled coili596 – 681Sequence analysisAdd BLAST86

Sequence similaritiesi

Belongs to the MCC family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGFX Eukaryota
ENOG410ZNR7 LUCA
GeneTreeiENSGT00530000063974
HOGENOMiHOG000154800
HOVERGENiHBG082552
InParanoidiQ8N6Y0
KOiK21881
OMAiAQGPAHV
OrthoDBiEOG091G0GQZ
PhylomeDBiQ8N6Y0
TreeFamiTF105384

Family and domain databases

InterProiView protein in InterPro
IPR019536 USH1C-bd_PDZ_domain
PfamiView protein in Pfam
PF10506 MCC-bdg_PDZ, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G8JLM4G8JLM4_HUMAN
Usher syndrome type-1C protein-bind...
USHBP1
639Annotation score:
Q8N8Y1Q8N8Y1_HUMAN
Usher syndrome 1C binding protein 1...
USHBP1 hCG_37669
383Annotation score:
M0R3B1M0R3B1_HUMAN
Usher syndrome type-1C protein-bind...
USHBP1
121Annotation score:
M0R172M0R172_HUMAN
Usher syndrome type-1C protein-bind...
USHBP1
32Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti233H → R in BAF84720 (PubMed:14702039).Curated1
Sequence conflicti400A → T in BAB41203 (PubMed:11311560).Curated1
Sequence conflicti454T → I in BAB41203 (PubMed:11311560).Curated1
Sequence conflicti572G → D in BAG37666 (PubMed:14702039).Curated1
Sequence conflicti586D → G in BAC11443 (PubMed:15489334).Curated1
Sequence conflicti633N → S in BAC11443 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027753439M → V1 PublicationCorresponds to variant dbSNP:rs9676419Ensembl.1
Natural variantiVAR_027754525V → M. Corresponds to variant dbSNP:rs12459398Ensembl.1
Natural variantiVAR_051481677A → V. Corresponds to variant dbSNP:rs1043963Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05208069 – 703Missing in isoform 2. 1 PublicationAdd BLAST635

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_001308346.1, NM_001321417.1 [Q8N6Y0-1]
NP_114147.2, NM_031941.3 [Q8N6Y0-1]
UniGeneiHs.512773

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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_001308346.1, NM_001321417.1 [Q8N6Y0-1]
NP_114147.2, NM_031941.3 [Q8N6Y0-1]
UniGeneiHs.512773

3D structure databases

ProteinModelPortaliQ8N6Y0
SMRiQ8N6Y0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123791, 141 interactors
IntActiQ8N6Y0, 244 interactors
MINTiQ8N6Y0
STRINGi9606.ENSP00000252597

PTM databases

iPTMnetiQ8N6Y0
PhosphoSitePlusiQ8N6Y0

Polymorphism and mutation databases

BioMutaiUSHBP1
DMDMi74729194

Proteomic databases

EPDiQ8N6Y0
PaxDbiQ8N6Y0
PeptideAtlasiQ8N6Y0
PRIDEiQ8N6Y0
ProteomicsDBi72246
72247 [Q8N6Y0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi83878
EuPathDBiHostDB:ENSG00000130307.11
GeneCardsiUSHBP1
H-InvDBiHIX0014884
HGNCiHGNC:24058 USHBP1
HPAiHPA052471
MIMi611810 gene
neXtProtiNX_Q8N6Y0
OpenTargetsiENSG00000130307
PharmGKBiPA134909077
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGFX Eukaryota
ENOG410ZNR7 LUCA
GeneTreeiENSGT00530000063974
HOGENOMiHOG000154800
HOVERGENiHBG082552
InParanoidiQ8N6Y0
KOiK21881
OMAiAQGPAHV
OrthoDBiEOG091G0GQZ
PhylomeDBiQ8N6Y0
TreeFamiTF105384

Miscellaneous databases

ChiTaRSiUSHBP1 human
GenomeRNAii83878
PROiPR:Q8N6Y0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130307 Expressed in 118 organ(s), highest expression level in apex of heart
CleanExiHS_USHBP1
ExpressionAtlasiQ8N6Y0 baseline and differential
GenevisibleiQ8N6Y0 HS

Family and domain databases

InterProiView protein in InterPro
IPR019536 USH1C-bd_PDZ_domain
PfamiView protein in Pfam
PF10506 MCC-bdg_PDZ, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUSBP1_HUMAN
AccessioniPrimary (citable) accession number: Q8N6Y0
Secondary accession number(s): A8K7L6
, B2RCR9, Q8NBX7, Q96KH3, Q9BYI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 120 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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