Q86VF7 (NRAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Nebulin-related-anchoring protein Short name=N-RAP | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference 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 | 1730 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix By similarity. UniProtKB Q80XB4 |
| Subunit structure | Interacts with actin, alpha-actinin, KLHL41, TLN1 and VCL By similarity. |
| Subcellular location | Note: Localized at the myotendinous junction in skeletal muscle and at the intercalated disk in cardiac muscle. Ref.1 |
| Tissue specificity | Expressed in cardiac and skeletal muscle. Ref.1 |
| Sequence similarities | Contains 1 LIM zinc-binding domain. Contains 44 nebulin repeats. |
| Sequence caution | The sequence AAH58825.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH70130.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAQ09536.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC04884.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | LIM domain Repeat |
| Ligand | Actin-binding Metal-binding Zinc |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | fascia adherens Inferred from sequence or structural similarity. Source: UniProtKB muscle tendon junctionInferred from sequence or structural similarity. Source: UniProtKB myofibrilInferred from electronic annotation. Source: Compara |
| Molecular_function | actin binding Inferred from sequence or structural similarity. Source: UniProtKB muscle alpha-actinin bindingInferred from sequence or structural similarity. Source: UniProtKB zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.1 Ref.3 (identifier: Q86VF7-1) 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.4 (identifier: Q86VF7-2) The sequence of this isoform differs from the canonical sequence as follows: 580-580: N → NVHLLLSLK | ||||||
| Note: Gene prediction based on EST data. | ||||||
| Isoform 3 Ref.4 (identifier: Q86VF7-3) The sequence of this isoform differs from the canonical sequence as follows: 371-405: Missing. 580-580: N → NVHLLLSLK | ||||||
| Note: Gene prediction based on EST data. | ||||||
| Isoform 4 Ref.1 Ref.2 (identifier: Q86VF7-4) The sequence of this isoform differs from the canonical sequence as follows: 371-405: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1730 | 1730 | Nebulin-related-anchoring protein | PRO_0000250425 | |||||
Regions | |||||||||
| Domain | 4 – 64 | 61 | LIM zinc-binding | ||||||
| Repeat | 63 – 97 | 35 | Nebulin 1 | ||||||
| Repeat | 156 – 166 | 11 | Nebulin 2 | ||||||
| Repeat | 175 – 202 | 28 | Nebulin 3 | ||||||
| Repeat | 203 – 237 | 35 | Nebulin 4 | ||||||
| Repeat | 246 – 273 | 28 | Nebulin 5 | ||||||
| Repeat | 298 – 307 | 10 | Nebulin 6 | ||||||
| Repeat | 316 – 343 | 28 | Nebulin 7 | ||||||
| Repeat | 348 – 382 | 35 | Nebulin 8 | ||||||
| Repeat | 389 – 417 | 29 | Nebulin 9 | ||||||
| Repeat | 419 – 453 | 35 | Nebulin 10 | ||||||
| Repeat | 487 – 521 | 35 | Nebulin 11 | ||||||
| Repeat | 522 – 556 | 35 | Nebulin 12 | ||||||
| Repeat | 558 – 592 | 35 | Nebulin 13 | ||||||
| Repeat | 602 – 626 | 25 | Nebulin 14 | ||||||
| Repeat | 627 – 661 | 35 | Nebulin 15 | ||||||
| Repeat | 662 – 692 | 31 | Nebulin 16 | ||||||
| Repeat | 702 – 724 | 23 | Nebulin 17 | ||||||
| Repeat | 726 – 760 | 35 | Nebulin 18 | ||||||
| Repeat | 761 – 795 | 35 | Nebulin 19 | ||||||
| Repeat | 797 – 831 | 35 | Nebulin 20 | ||||||
| Repeat | 844 – 869 | 26 | Nebulin 21 | ||||||
| Repeat | 870 – 896 | 27 | Nebulin 22 | ||||||
| Repeat | 901 – 935 | 35 | Nebulin 23 | ||||||
| Repeat | 945 – 963 | 19 | Nebulin 24 | ||||||
| Repeat | 969 – 1003 | 35 | Nebulin 25 | ||||||
| Repeat | 1004 – 1038 | 35 | Nebulin 26 | ||||||
| Repeat | 1040 – 1074 | 35 | Nebulin 27 | ||||||
| Repeat | 1078 – 1112 | 35 | Nebulin 28 | ||||||
| Repeat | 1113 – 1139 | 27 | Nebulin 29 | ||||||
| Repeat | 1144 – 1178 | 35 | Nebulin 30 | ||||||
| Repeat | 1183 – 1206 | 24 | Nebulin 31 | ||||||
| Repeat | 1212 – 1246 | 35 | Nebulin 32 | ||||||
| Repeat | 1247 – 1281 | 35 | Nebulin 33 | ||||||
| Repeat | 1283 – 1317 | 35 | Nebulin 34 | ||||||
| Repeat | 1321 – 1355 | 35 | Nebulin 35 | ||||||
| Repeat | 1356 – 1390 | 35 | Nebulin 36 | ||||||
| Repeat | 1391 – 1421 | 31 | Nebulin 37 | ||||||
| Repeat | 1429 – 1449 | 21 | Nebulin 38 | ||||||
| Repeat | 1455 – 1481 | 27 | Nebulin 39 | ||||||
| Repeat | 1490 – 1524 | 35 | Nebulin 40 | ||||||
| Repeat | 1526 – 1560 | 35 | Nebulin 41 | ||||||
| Repeat | 1564 – 1598 | 35 | Nebulin 42 | ||||||
| Repeat | 1599 – 1626 | 28 | Nebulin 43 | ||||||
| Repeat | 1640 – 1664 | 25 | Nebulin 44 | ||||||
Natural variations | |||||||||
| Alternative sequence | 371 – 405 | 35 | Missing in isoform 3 and isoform 4. Ref.1 Ref.2 Ref.4 | VSP_052165 | |||||
| Alternative sequence | 580 | 1 | N → NVHLLLSLK in isoform 2 and isoform 3. Ref.4 | VSP_052166 | |||||
| Natural variant | 132 | 1 | A → S. Corresponds to variant rs34700024 [ dbSNP | Ensembl ]. | VAR_034073 | |||||
| Natural variant | 186 | 1 | Q → E. Corresponds to variant rs35049661 [ dbSNP | Ensembl ]. | VAR_034074 | |||||
| Natural variant | 208 | 1 | V → A. Ref.2 Ref.3 Ref.3 Ref.5 Ref.6 Corresponds to variant rs2154028 [ dbSNP | Ensembl ]. | VAR_027556 | |||||
| Natural variant | 249 | 1 | Y → C. Ref.3 Ref.3 Corresponds to variant rs2185913 [ dbSNP | Ensembl ]. | VAR_027557 | |||||
| Natural variant | 282 | 1 | A → T. Corresponds to variant rs2275799 [ dbSNP | Ensembl ]. | VAR_034075 | |||||
| Natural variant | 344 | 1 | A → T. Ref.2 Ref.3 Ref.3 Ref.5 Corresponds to variant rs3121478 [ dbSNP | Ensembl ]. | VAR_027558 | |||||
| Natural variant | 360 | 1 | Q → R. Ref.2 Ref.3 Ref.3 Ref.5 Corresponds to variant rs3127106 [ dbSNP | Ensembl ]. | VAR_027559 | |||||
| Natural variant | 484 | 1 | D → N. Corresponds to variant rs11196400 [ dbSNP | Ensembl ]. | VAR_050160 | |||||
| Natural variant | 490 | 1 | S → L. Ref.3 Ref.4 Corresponds to variant rs3189030 [ dbSNP | Ensembl ]. | VAR_034076 | |||||
| Natural variant | 519 | 1 | N → I. Corresponds to variant rs2270182 [ dbSNP | Ensembl ]. | VAR_034077 | |||||
| Natural variant | 647 | 1 | A → S. Corresponds to variant rs2286734 [ dbSNP | Ensembl ]. | VAR_050161 | |||||
| Natural variant | 674 | 1 | A → V. Ref.2 Corresponds to variant rs2286735 [ dbSNP | Ensembl ]. | VAR_034078 | |||||
| Natural variant | 884 | 1 | R → C. Ref.3 Corresponds to variant rs868738 [ dbSNP | Ensembl ]. | VAR_034079 | |||||
| Natural variant | 1022 | 1 | M → V. Corresponds to variant rs34523503 [ dbSNP | Ensembl ]. | VAR_061357 | |||||
| Natural variant | 1112 | 1 | A → V. Ref.3 Corresponds to variant rs1539587 [ dbSNP | Ensembl ]. | VAR_034080 | |||||
| Natural variant | 1183 | 1 | I → V. Ref.1 Ref.3 Corresponds to variant rs10749138 [ dbSNP | Ensembl ]. | VAR_050162 | |||||
| Natural variant | 1531 | 1 | L → P. Ref.3 Ref.3 Corresponds to variant rs11196389 [ dbSNP | Ensembl ]. | VAR_027560 | |||||
| Natural variant | 1566 | 1 | R → C. Ref.3 Corresponds to variant rs1885434 [ dbSNP | Ensembl ]. | VAR_050163 | |||||
| Natural variant | 1569 | 1 | D → N. Corresponds to variant rs11575798 [ dbSNP | Ensembl ]. | VAR_050164 | |||||
| Natural variant | 1643 | 1 | A → S. Corresponds to variant rs11575797 [ dbSNP | Ensembl ]. | VAR_050165 | |||||
Experimental info | |||||||||
| Sequence conflict | 224 | 1 | S → N in CAD38623. Ref.3 | ||||||
| Sequence conflict | 261 | 1 | D → G in CAD89910. Ref.3 | ||||||
| Sequence conflict | 338 | 1 | F → S in CAE45846. Ref.3 | ||||||
| Sequence conflict | 395 | 1 | N → D in CAD38623. Ref.3 | ||||||
| Sequence conflict | 488 | 1 | Y → H in CAE45811. Ref.3 | ||||||
| Sequence conflict | 545 | 1 | V → A in BAB71328. Ref.5 | ||||||
| Sequence conflict | 658 | 1 | E → G in CAD89910. Ref.3 | ||||||
| Sequence conflict | 862 | 1 | K → E in CAD89910. Ref.3 | ||||||
| Sequence conflict | 862 | 1 | K → E in CAE45846. Ref.3 | ||||||
| Sequence conflict | 1210 | 1 | S → P in CAE45846. Ref.3 | ||||||
| Sequence conflict | 1236 | 1 | L → F in CAD89910. Ref.3 | ||||||
| Sequence conflict | 1260 | 1 | A → V in CAE45846. Ref.3 | ||||||
| Sequence conflict | 1348 | 1 | R → K in CAE45846. Ref.3 | ||||||
| Sequence conflict | 1357 | 1 | F → L in CAD89899. Ref.3 | ||||||
| Sequence conflict | 1414 | 1 | S → L in CAE45846. Ref.3 | ||||||
| Sequence conflict | 1563 | 1 | I → V in CAD89910. Ref.3 | ||||||
| Sequence conflict | 1607 | 1 | P → H in CAD89910. Ref.3 | ||||||
| Sequence conflict | 1672 | 1 | S → P in CAD38623. Ref.3 | ||||||
| Sequence conflict | 1696 | 1 | Y → YQ in CAD89910. Ref.3 | ||||||
| Sequence conflict | 1696 | 1 | Y → YQ in CAD89998. Ref.3 | ||||||
| Sequence conflict | 1696 | 1 | Y → YQ Ref.4 | ||||||
| Sequence conflict | 1697 | 1 | R → Q in CAD89899. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle." Mohiddin S.A., Lu S., Cardoso J.-P., Carroll S., Jha S., Horowits R., Fananapazir L. Cell Motil. Cytoskeleton 55:200-212(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT VAL-1183. |
| [2] | "Human Nrap, a novel gene which interact with actin." Yuan H.F., Wang X., Wang D.M., Li H.M., Feng K., Bai C.X., Zhang R., Chen L., Li Y.H., Gao Y.H., Zhen M., Yue W., Xie C., Xie X.Y., Niu L.L., Gao W.J., Zhang J., Cao H., Pei X.T. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANTS ALA-208; THR-344; ARG-360 AND VAL-674. Tissue: Skeletal muscle. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ALA-208; CYS-249; THR-344; ARG-360; LEU-490; CYS-884; VAL-1112; VAL-1183; PRO-1531 AND CYS-1566. Tissue: Skeletal muscle. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-490. |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-580 (ISOFORMS 1/2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1311-1730 (ISOFORM 1), VARIANTS ALA-208; THR-344 AND ARG-360. Tissue: Skeletal muscle. |
| [6] | "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] OF 1-270 (ISOFORM 1), VARIANT ALA-208. Tissue: Skeletal muscle. |
| [7] | "Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes." Luo G., Leroy E., Kozak C.A., Polymeropoulos M.H., Horowits R. Genomics 45:229-232(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1004-1080 (ISOFORM 1). |
| [8] | "Cloning and characterization of a novel human gene encoding a protein of 394 amino acids with significant motif of nebulin signature IV and nebulin repeat." Zhang D.L., Cai J.J., Ma D.L. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1314-1730 (ISOFORM 1). |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY177620 mRNA. Translation: AAO47073.1. AY177621 mRNA. Translation: AAO47074.1. AY081943 mRNA. Translation: AAL99185.2. AL831980 mRNA. Translation: CAD89899.1. AL832025 mRNA. Translation: CAD89910.1. AL832330 mRNA. Translation: CAD38623.1. AL832457 mRNA. Translation: CAD89998.1. BX640682 mRNA. Translation: CAE45811.1. BX640730 mRNA. Translation: CAE45846.1. BX641052 mRNA. Translation: CAE46027.1. AL390197 Genomic DNA. Translation: CAH71110.1. AL390197 Genomic DNA. Translation: CAH71111.1. AK056969 mRNA. Translation: BAB71328.1. AK096886 mRNA. Translation: BAC04884.1. Different initiation. BC058825 mRNA. Translation: AAH58825.1. Sequence problems. BC070130 mRNA. Translation: AAH70130.1. Sequence problems. U96486 Genomic DNA. Translation: AAC51786.1. AF542553 mRNA. Translation: AAQ09536.1. Different initiation. |
| IPI | IPI00398162. IPI00478974. IPI00745227. IPI00786896. |
| RefSeq | NP_001248392.1. NM_001261463.1. NP_006166.3. NM_006175.4. NP_932326.2. NM_198060.3. |
| UniGene | Hs.268788. |
3D structure databases | |
| ProteinModelPortal | Q86VF7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q86VF7. 1 interaction. |
| MINT | MINT-4726323. |
PTM databases | |
| PhosphoSite | Q86VF7. |
Polymorphism databases | |
| DMDM | 115502505. |
Proteomic databases | |
| PaxDb | Q86VF7. |
| PRIDE | Q86VF7. |
Protocols and materials databases | |
| DNASU | 4892. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000359988; ENSP00000353078; ENSG00000197893. ENST00000360478; ENSP00000353666; ENSG00000197893. ENST00000369358; ENSP00000358365; ENSG00000197893. ENST00000369360; ENSP00000358367; ENSG00000197893. |
| GeneID | 4892. |
| KEGG | hsa:4892. |
| UCSC | uc001laj.3. human. uc001lak.3. human. |
Organism-specific databases | |
| CTD | 4892. |
| GeneCards | GC10M115338. |
| H-InvDB | HIX0009218. |
| HGNC | HGNC:7988. NRAP. |
| HPA | HPA037954. |
| MIM | 602873. gene. |
| neXtProt | NX_Q86VF7. |
| PharmGKB | PA31767. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG262357. |
| HOVERGEN | HBG052905. |
| OMA | WMKGVGW. |
| PhylomeDB | Q86VF7. |
Gene expression databases | |
| ArrayExpress | Q86VF7. |
| Bgee | Q86VF7. |
| Genevestigator | Q86VF7. |
| GermOnline | ENSG00000197893. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.10.110.10. 1 hit. |
| InterPro | IPR013998. Nebulin. IPR000900. Nebulin_35r-motif. IPR001781. Znf_LIM. [Graphical view] |
| Pfam | PF00412. LIM. 1 hit. PF00880. Nebulin. 19 hits. [Graphical view] |
| PRINTS | PR00510. NEBULIN. |
| SMART | SM00132. LIM. 1 hit. SM00227. NEBU. 41 hits. [Graphical view] |
| PROSITE | PS00478. LIM_DOMAIN_1. 1 hit. PS50023. LIM_DOMAIN_2. 1 hit. PS51216. NEBULIN. 44 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 4892. |
| NextBio | 18829. |
| SOURCE | Search... |
Entry information
| Entry name | NRAP_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86VF7 Secondary accession number(s): O15500 Q96MG4 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
