Reviewed, UniProtKB/Swiss-Prot Q8N6Y0 (USBP1_HUMAN)

Names and origin

Protein names

Recommended name:
    USH1C-binding protein 1
Alternative name(s):
    Usher syndrome type-1C protein-binding protein 1
    MCC-2
    AIE-75-binding protein

Gene names

Name:	USHBP1
Synonyms:	AIEBP, MCC2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	703 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome
Gene Ontology (GO)
Molecular function	PDZ domain binding Ref.1 Inferred from physical interaction. Source: HGNC
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BET1	O15155	1	EBI-739895,EBI-749204
EXOC8	Q8IYI6	1	EBI-739895,EBI-742102
FANCG	O15287	2	EBI-739895,EBI-81610
NOC4L	Q9BVI4	1	EBI-739895,EBI-395927
PRC1	O43663	2	EBI-739895,EBI-741137
SERTAD3	Q9UJW9	3	EBI-739895,EBI-748621

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 703	703	USH1C-binding protein 1		PRO_0000252109
Regions
	Coiled coil	189 – 227	39	Potential
	Coiled coil	289 – 309	21	Potential
	Coiled coil	476 – 513	38	Potential
	Coiled coil	596 – 681	86	Potential
Natural variations
	Alternative sequence	69 – 703	635	Missing in isoform 2. Ref.1		VSP_052080
	Natural variant	439	1	M → V: dbSNP rs9676419. Ref.1		VAR_027753
	Natural variant	525	1	V → M: dbSNP rs12459398.		VAR_027754
	Natural variant	677	1	A → V: dbSNP rs1043963.		VAR_051481
Experimental info
	Sequence conflict	400	1	A → T in BAB41203. Ref.1
	Sequence conflict	454	1	T → I in BAB41203. Ref.1
	Sequence conflict	586	1	D → G in BAC11443. Ref.3
	Sequence conflict	633	1	N → S in BAC11443. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 75BD22E490DC1467	FASTA	703	76,068
	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
	Isoform 2. Checksum: 162E3F97D473E257	FASTA	68	7,014
	10 20 30 40 50 60 MSARATRPRS RRGRHAPPGE LDPVAESSEE VEAASGSSKP SFAPPPVSSG LEQLGPMEEV SGQGLGSR

References

	« Hide 'large scale' referencesShow '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: 11311560] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH USH1C, TISSUE SPECIFICITY, VARIANT VAL-439. Tissue: Kidney and Placenta.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 272-703 (ISOFORM 1). Tissue: Placenta.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB026290 mRNA. Translation: BAB41203.1. AB040046 mRNA. Translation: BAB43978.1. BC027910 mRNA. Translation: AAH27910.1. AK075162 mRNA. Translation: BAC11443.1. Different initiation.
IPI	IPI00297559. IPI00939377.
RefSeq	NP_114147.2.
UniGene	Hs.512773
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N6Y0. 33 interactions.
STRING	Q8N6Y0.
Proteomic databases
PRIDE	Q8N6Y0.
Genome annotation databases
Ensembl	ENST00000252597; ENSP00000252597; ENSG00000130307; Homo sapiens. [Genome view]
GeneID	83878.
KEGG	hsa:83878.
UCSC	uc002nfs.1. human.
Organism-specific databases
CTD	83878.
GeneCards	GC19M017223.
HGNC	HGNC:24058. USHBP1.
PharmGKB	PA134909077.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8N6Y0.
OMA	KGRCEGL
OrthoDB	EOG9JQ6HV
Gene expression databases
ArrayExpress	Q8N6Y0.
Bgee	Q8N6Y0.
CleanEx	HS_USHBP1.
Genevestigator	Q8N6Y0.
GermOnline	ENSG00000130307. Homo sapiens.
Family and domain databases
InterPro	IPR019536. USH1C-bd_PDZ_domain. [Graphical view]
Pfam	PF10506. MCC-bdg_PDZ. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	72931.

Entry information

Entry name

USBP1_HUMAN

Accession

Primary (citable) accession number: Q8N6Y0
Secondary accession number(s): Q8NBX7, Q96KH3, Q9BYI8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2006
Last sequence update:	October 1, 2002
Last modified:	November 24, 2009
This is version 45 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.