Q9HBI1 (PARVB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-parvin

Alternative name(s):
Affixin

Gene names

Name:	PARVB
ORF Names:	CGI-56

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	364 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probably plays a role in the regulation of cell adhesion and cytoskeleton organization.
Subunit structure	Interacts with DYSF. Interacts with integrin-linked protein kinase and actin. Ref.11
Subcellular location	Cell junction › focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm › cytoskeleton. Note: Constituent of focal adhesions.
Tissue specificity	Expressed predominantly in heart and skeletal muscle. Ref.10
Sequence similarities	Belongs to the parvin family. Contains 2 CH (calponin-homology) domains.
Sequence caution	The sequence AAD34051.1 differs from that shown. Reason: Frameshift at positions 4, 14, 48, 58, 155, 162, 171, 327, 331 and 344. The sequence BG743702 differs from that shown. Reason: Frameshift at positions 136, 232 and 237.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell junction Cell membrane Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	Actin-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW cell junction assembly Traceable author statement. Source: Reactome
Cellular component	cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Traceable author statement. Source: Reactome focal adhesion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	actin binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HBI1-1) 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 (identifier: Q9HBI1-2) The sequence of this isoform differs from the canonical sequence as follows:      1-37: MSSAPRSPTP...TLARKRRARE → MHHVFKDHQR...VETSEYAQGG
Note: Ref.1 (AAL08219) sequence is in conflict in positions: 21:N->K and 37:W->R.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Sequence conflict	4	1	V → G in BG743702. Ref.8

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 364	364	Beta-parvin		PRO_0000121583
Regions
	Domain	87 – 194	108	CH 1
	Domain	254 – 361	108	CH 2
Amino acid modifications
	Modified residue	54	1	Phosphoserine Ref.12
Natural variations
	Alternative sequence	1 – 37	37	MSSAP…RRARE → MHHVFKDHQRGEKRGFLSPE NKNCRRLELRRGCSCSWGLC SQALMASLAGSLLPGSDRSG VETSEYAQGG in isoform 2.		VSP_041336
	Natural variant	52	1	P → R. Corresponds to variant rs34476853 [ dbSNP | Ensembl ].		VAR_034369
	Natural variant	58	1	V → A. Ref.1 Ref.5 Ref.8 Corresponds to variant rs1983609 [ dbSNP | Ensembl ].		VAR_017242
Experimental info
	Sequence conflict	27	1	G → V in AAD34051. Ref.4
	Sequence conflict	59	1	D → M in AAD34051. Ref.4
	Sequence conflict	349	1	T → P in AAD34051. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 4BA4B50C83083DC7	FASTA	364	41,714
	10 20 30 40 50 60 MSSAPRSPTP RPRRMKKDES FLGKLGGTLA RKRRAREVSD LQEEGKNAIN SPMSPALVDV 70 80 90 100 110 120 HPEDTQLEEN EERTMIDPTS KEDPKFKELV KVLLDWINDV LVEERIIVKQ LEEDLYDGQV 130 140 150 160 170 180 LQKLLEKLAG CKLNVAEVTQ SEIGQKQKLQ TVLEAVHDLL RPRGWALRWS VDSIHGKNLV 190 200 210 220 230 240 AILHLLVSLA MHFRAPIRLP EHVTVQVVVV RKREGLLHSS HISEELTTTT EMMMGRFERD 250 260 270 280 290 300 AFDTLFDHAP DKLSVVKKSL ITFVNKHLNK LNLEVTELET QFADGVYLVL LMGLLEDYFV 310 320 330 340 350 360 PLHHFYLTPE SFDQKVHNVS FAFELMLDGG LKKPKARPED VVNLDLKSTL RVLYNLFTKY KNVE
	Isoform 2 [UniParc]. Checksum: BA4335437824E465	FASTA	397	45,183
	10 20 30 40 50 60 MHHVFKDHQR GEKRGFLSPE NKNCRRLELR RGCSCSWGLC SQALMASLAG SLLPGSDRSG 70 80 90 100 110 120 VETSEYAQGG VSDLQEEGKN AINSPMSPAL VDVHPEDTQL EENEERTMID PTSKEDPKFK 130 140 150 160 170 180 ELVKVLLDWI NDVLVEERII VKQLEEDLYD GQVLQKLLEK LAGCKLNVAE VTQSEIGQKQ 190 200 210 220 230 240 KLQTVLEAVH DLLRPRGWAL RWSVDSIHGK NLVAILHLLV SLAMHFRAPI RLPEHVTVQV 250 260 270 280 290 300 VVVRKREGLL HSSHISEELT TTTEMMMGRF ERDAFDTLFD HAPDKLSVVK KSLITFVNKH 310 320 330 340 350 360 LNKLNLEVTE LETQFADGVY LVLLMGLLED YFVPLHHFYL TPESFDQKVH NVSFAFELML 370 380 390 DGGLKKPKAR PEDVVNLDLK STLRVLYNLF TKYKNVE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"CLINT, Calponin homology domain protein binding to integrin-linked kinase, ILK1." Carnio L., Hannigan G.E. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ALA-58. Tissue: Skeletal muscle.
[2]	"A novel integrin-linked kinase-binding protein, affixin, is involved in the early stage of cell-substrate interaction." Yamaji S., Suzuki A., Sugiyama Y., Koide Y., Yoshida M., Kanamori H., Mohri H., Ohno S., Ishigatsubo Y. J. Cell Biol. 153:1251-1264(2001) [PubMed: 11402068] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Parvin, a 42 kDa focal adhesion protein, related to the alpha-actinin superfamily." Olski T.M., Noegel A.A., Korenbaum E. J. Cell Sci. 114:525-538(2001) [PubMed: 11171322] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"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] (ISOFORM 1), VARIANT ALA-58. Tissue: Colon.
[6]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-238 (ISOFORM 2), VARIANT ALA-58. Tissue: Brain and Skin.
[9]	"Reevaluating human gene annotation: a second-generation analysis of chromosome 22." Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I. Genome Res. 13:27-36(2003) [PubMed: 12529303] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-364 (ISOFORM 1).
[10]	"Genomic organization and expression profile of the parvin family of focal adhesion proteins in mice and humans." Korenbaum E., Olski T.M., Noegel A.A. Gene 279:69-79(2001) [PubMed: 11722847] [Abstract] Cited for: TISSUE SPECIFICITY.
[11]	"Dysferlin interacts with affixin (beta-parvin) at the sarcolemma." Matsuda C., Kameyama K., Tagawa K., Ogawa M., Suzuki A., Yamaji S., Okamoto H., Nishino I., Hayashi Y.K. J. Neuropathol. Exp. Neurol. 64:334-340(2005) [PubMed: 15835269] [Abstract] Cited for: INTERACTION WITH DYSF.
[12]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-54, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF303887 mRNA. Translation: AAL08219.1. AB048276 mRNA. Translation: BAB62077.1. AF237769 mRNA. Translation: AAG27171.1. AF151814 mRNA. Translation: AAD34051.1. Frameshift. AK313957 mRNA. Translation: BAG36673.1. AL031595, AL033543, Z82178 Genomic DNA. Translation: CAI22312.1. AL033543, AL031595, Z82178 Genomic DNA. Translation: CAI17969.1. Z82178, AL031595, AL033543 Genomic DNA. Translation: CAI18767.1. AL033543, AL031595, AL035398 Genomic DNA. Translation: CAQ06493.1. AL031595, AL033543, AL035398 Genomic DNA. Translation: CAQ08144.1. AL035398, AL031595, AL033543 Genomic DNA. Translation: CAQ09485.1. CH471138 Genomic DNA. Translation: EAW73328.1. BC046103 mRNA. Translation: AAH46103.2. BG743702 mRNA. No translation available. AL159142 mRNA. Translation: CAB76900.1.
IPI	IPI00043083. IPI00382605.
RefSeq	NP_001003828.1. NM_001003828.2. NP_001230315.1. NM_001243386.1. NP_037459.2. NM_013327.4.
UniGene	Hs.475074.
3D structure databases
ProteinModelPortal	Q9HBI1.
SMR	Q9HBI1. Positions 92-194, 238-364.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-6178745.
STRING	Q9HBI1.
PTM databases
PhosphoSite	Q9HBI1.
Polymorphism databases
DMDM	20139178.
Proteomic databases
PRIDE	Q9HBI1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000338758; ENSP00000342492; ENSG00000188677.
GeneID	29780.
KEGG	hsa:29780.
UCSC	uc003ben.1. human.
Organism-specific databases
CTD	29780.
GeneCards	GC22P044395.
H-InvDB	HIX0138754.
HGNC	HGNC:14653. PARVB.
MIM	608121. gene.
neXtProt	NX_Q9HBI1.
PharmGKB	PA32951.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15350.
GeneTree	ENSGT00390000009673.
HOVERGEN	HBG053517.
OMA	KNAINAP.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
ArrayExpress	Q9HBI1.
Bgee	Q9HBI1.
CleanEx	HS_PARVB.
Genevestigator	Q9HBI1.
GermOnline	ENSG00000188677. Homo sapiens.
Family and domain databases
InterPro	IPR001715. CH-domain. [Graphical view]
Gene3D	G3DSA:1.10.418.10. Calponin-homology. 2 hits.
KO	K06275.
Pfam	PF00307. CH. 2 hits. [Graphical view]
SMART	SM00033. CH. 2 hits. [Graphical view]
SUPFAM	SSF47576. Calponin-homology. 1 hit.
PROSITE	PS50021. CH. 2 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	52306.
SOURCE	Search...

Entry information

Entry name

PARVB_HUMAN

Accession

Primary (citable) accession number: Q9HBI1
Secondary accession number(s): B0QYN1 , B2R9X6, Q5TGJ5, Q86X93, Q96PN1, Q9NSP7, Q9UGT3, Q9Y368, Q9Y3L6, Q9Y3L7

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	March 1, 2001
Last modified:	January 25, 2012
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.