NRAP (nebulin related anchoring protein)

Gene

• Entrez ID: 4892
• Gene name: Nebulin related anchoring protein
• Gene symbol: NRAP
• Synonyms (NCBI Gene): N-RAP
• Chromosome: 10
• Chromosome location: 10q25.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1193112	hsa-miR-1266	CLIP-seq
MIRT1193113	hsa-miR-3176	CLIP-seq
MIRT1193114	hsa-miR-3183	CLIP-seq
MIRT1193115	hsa-miR-326	CLIP-seq
MIRT1193116	hsa-miR-330-5p	CLIP-seq
MIRT1193117	hsa-miR-3664-3p	CLIP-seq
MIRT1193118	hsa-miR-3922-3p	CLIP-seq
MIRT1193119	hsa-miR-4518	CLIP-seq
MIRT1193120	hsa-miR-4723-3p	CLIP-seq
MIRT1193121	hsa-miR-4757-5p	CLIP-seq
MIRT1193122	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0003779	Function	Actin binding	NAS	9339382
GO:0005515	Function	Protein binding	IPI	15205937, 23414517, 30986853
GO:0005737	Component	Cytoplasm	IEA
GO:0005916	Component	Fascia adherens	IEA
GO:0005916	Component	Fascia adherens	ISS
GO:0005927	Component	Muscle tendon junction	IEA
GO:0005927	Component	Muscle tendon junction	ISS
GO:0017166	Function	Vinculin binding	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	ISS
GO:0071691	Process	Cardiac muscle thin filament assembly	IBA

Other IDs

• MIM: 602873
• HGNC: 7988
• e!Ensembl: ENSG00000197893

Protein

• UniProt ID: Q86VF7
• Protein name: Nebulin-related-anchoring protein (N-RAP)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00412	LIM	6 → 61	LIM domain	Domain
  PF00880	Nebulin	209 → 238	Nebulin repeat	Repeat
  PF00880	Nebulin	316 → 342	Nebulin repeat	Repeat
  PF00880	Nebulin	493 → 520	Nebulin repeat	Repeat
  PF00880	Nebulin	528 → 555	Nebulin repeat	Repeat
  PF00880	Nebulin	564 → 591	Nebulin repeat	Repeat
  PF00880	Nebulin	767 → 794	Nebulin repeat	Repeat
  PF00880	Nebulin	803 → 832	Nebulin repeat	Repeat
  PF00880	Nebulin	842 → 868	Nebulin repeat	Repeat
  PF00880	Nebulin	1046 → 1073	Nebulin repeat	Repeat
  PF00880	Nebulin	1254 → 1280	Nebulin repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in cardiac and skeletal muscle. {ECO:0000269|PubMed:12789664}.
• Sequence:

  MNVQPCSRCGYGVYPAEKISCIDQIWHKACFHCEVCKMMLSVNNFVSHQKKPYCHAHNPK
  NNTFTSVYHTPLNLNVRTFPEAISGIHDQEDGEQCKSVFHWDMKSKDKEGAPNRQPLANE
  RAYWTGYGEGNAWCPGALPDPEIVRMVEARKSLGEEYTEDYEQPRGKGSFPAMITPAYQR
  AKKANQLASQVEYKRGHDERISRFSTVVDTPELLRSKAGAQLQSDVRYTEDYEQQRGKGS
  FPAMITPAYQIAKRANELASDVRYHQQYQKEMRGMAGPAIGAEGILTRECADQYGQGYPE
  EYEEHRGKGSFPAMITPAYQNAKKAHELASDIKYRQDFNKMKGAAHYHSLPAQDNLVLKQ
  AQSVNKLVSEVEYKKDLESSRGHSINYCETPQFRNVSKISKFTSDNKYKENYQNHMRGRY
  EGVGMDRRTLHAMKVGSLASNVAYKADYKHDIVDYNYPATLTPSYQTAMKLVPLKDANYR
  QSIDKLKYSSVTDTPQIVQAKINAQQLSHVNYRADYEKNKLNYTLPQDVPQLVKAKTNAK
  LFSEVKYKEGWEKTKGKGFEMKLDAMSLLAAKASGELASNIKYKEEYEKTKGKAMGTADS
  RLLHSLQIAKMSSEVEYKKGFEESKTRFHLPMDMVNIRHAKKAQTLASDLDYRKKLHEYT
  VLPEDMKTQWAKKAYGLQSELQYKADLAWMKGVGWLTEGSLNLEQAKKAGQLVSEKNYRQ
  RVDELKFTSVTDSSQMEHAKKSQELQSGVAYKAGNEQSVHQYTISKDEPLFLQARANAAN
  LSEKLYKSSWENQKAKGFELRLDSLTFLAAKAKRDLASEVKYKEDYERSRGKLIGAKDVQ
  GDSQMSHSLQMSKLQSELEYKKGFEDTKSQCHVSLDMVHLVHARKAQHLATDVGYKTAEH
  HFTALPTDMKVEWAKKAYGLQSDNQYRADVKWMKGMGWVATGSLNVEQAKKAGELISEKK
  YRQHPDALKFTSIKDTPEMVQARISYTQAVDRLYREQGENIKHHYTPTADLPEVLLAKLN
  AMNISETRYKESWSKLRDGGYKLRLDALPFQAAKASGEIISDYKYKEAFEKMKGQMLGSR
  SLEDDISLAHSVYATSLQSDVNYKKGFEHSKAQFHLPLDMAALVHAKKAQTLASNQDYKH
  PLPQYTSLAEDLRLSCAKKAHKLQSENLYRSDLNFMRGVACVIPGTLEIEGRKKASELIS
  ESKYRQHPHSFKYTAVTDTPNLLHAKFSNQITNERLYKAAGEDARHEYTMTLGLPEFIRA
  KTNAANLSDARYKESWRNLRAQGYKLTIEALPFQAARASGDIASDFLYRHDFVKERGKLI
  GPQSVRDDPRIQHCRRMGQLQSELQYRRGATSSQAQFHLPMDMVHLVHAKNAQALASDHD
  YRTQYHKFTALPEDLKMAWAKKAHALQSELRYKSDLIGMKGIGWLALRSPQMESAKKAGE
  LISETKYRKKPDSIKFTTVVDSPDLVHAKNSYMHCNERMYRSGDAESLHRYTLIPDHPDF
  TRARLNALHLSDKVYRNSWEQTRAGSYDFRLDAIPFQTARASREIASDFRYKEAFLRDRG
  LQIGYRSVDDDPRMKHFLNVGRLQSDNEYKKDFAKSRSQFHSSTDQPGLLQAKRSQQLAS
  DVHYRQPLPQPTCDPEQLGLRHAQKAHQLQSDVKYKSDLNLTRGVGWTPPGSYKVEMARR
  AAELANARGLGLQGAYRGAEAVEAGDHQSGEVNPDATEILHVKKKKALLL

• Sequence length: 1730

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiovascular phenotype	Likely pathogenic	rs199673219, rs777578966	RCV005404215 RCV005405041	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NRAP-related disorder	Likely pathogenic	rs1592806462	RCV003414145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic	rs2133935229	RCV004785556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arthritis Psoriatic	Associate	25514237	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Associate	36672924	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Associate	28611399, 30384889, 33534821, 36672924	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Associate	36672924	★☆☆☆☆ Found in Text Mining only
Filaminopathy autosomal dominant	Associate	23115302	★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders Nervous System	Associate	19833706	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Associate	34380431	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies	Associate	19833706	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Associate	27443559	★☆☆☆☆ Found in Text Mining only
Myopathy Myofibrillar Zasp Related	Associate	27443559	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Associate	19833706	★☆☆☆☆ Found in Text Mining only