NPHP1

NPHP1
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	1 S1N
식별자
에일리어스	NPHP1, JBTS4, NPH1, SLSN1, 네프로시스틴1
외부 ID	OMIM: 607100 MGI: 1858233 HomoloGene: 229 GenCard: NPHP1
유전자 위치(인간)
크르.	2번 염색체(인간)
끝.	110,136,066 bp
유전자 위치(마우스)
크르.	2번 염색체(마우스)
끝.	127,630,817 bp
RNA발현패턴
	상단 표시 위치:
	우측 자궁관; ; 기관지 상피 세포; ; 뇌하수체 전엽; ; 위근; ; 아킬레스건; ; 갑상선 우엽; ; 갑상선 좌엽; ; 상부 신경; ; 난모세포; ; 좌측 자궁관;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	구조 분자 활성; GO:0001948 단백질 결합;
셀룰러 컴포넌트	세포질; 세포; 세포 투영; 막; 세포-세포 접합; 이세포밀접합; 아데렌스 접합; 섬모; 섬유를 연결하는 광수용체; 세포 접합; 운동성 섬모; 세포골격; 섬모 전이대;
생물학적 과정	세포 분화; 배설물; 정자 분화; 세포투영조직; 카메라형 눈의 망막 발달; 정자 형성; 액틴세포골격조직; 신호 변환; 시각 거동; 이세포밀접합조립체양조절; 섬모 기저막 도킹; 세포 접착;
	출처:아미고 / QuickGO
맞춤법
	4867
	53885
	ENSG00000144061
	ENSMUSG000027378
	O15259
	Q9QY53
NM_000272; NM_001128178; NM_001128179; NM_207181; NM_001374256;
	NM_001374257
	NM_001291012; NM_001291013; NM_016902; NM_001355429; NM_001369236
NP_000263; NP_001121650; NP_001121651; NP_997064; NP_001361185;
	NP_001361186
	NP_001277941; NP_001277942; NP_058598; NP_001342358; NP_001356165
	위키데이터
인간 보기/편집	마우스 표시/편집

Nephrocystin-1은 사람에게서 NPHP1 유전자에 ^[5]의해 암호화되는 단백질이다.

기능.

이 유전자는 SRC 호몰로지 도메인 3(SH3) 패턴을 가진 단백질을 암호화한다.이 유전자의 돌연변이는 가족성 어린 네프로노피증을 일으킨다.^[5]

상호 작용

NPHP1은 BCAR1,^[6]^[7] PTK2B,^[7] 필라민^[8] 및 ^[9]INVS와 상호작용하는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000144061 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000027378 - 앙상블, 2017년 5월
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)".
^ Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664.
^ ^a ^b Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. Bibcode:2001PNAS...98.9784B. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
^ Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
^ Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (Aug 2003). "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination". Nature Genetics. 34 (4): 413–20. doi:10.1038/ng1217. PMC 3732175. PMID 12872123.

추가 정보

Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C (Apr 1998). "Familial juvenile nephronophthisis". Journal of Molecular Medicine. 76 (5): 310–6. doi:10.1007/s001090050222. PMID 9587065. S2CID 21330229.
Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM (Dec 1998). "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus". American Journal of Kidney Diseases. 32 (6): 1059–62. doi:10.1016/S0272-6386(98)70083-6. PMID 9856524.
Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C (Jul 1994). "Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity". Genomics. 22 (2): 296–301. doi:10.1006/geno.1994.1387. PMID 7806215.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C (Mar 1996). "Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis". Human Molecular Genetics. 5 (3): 367–71. doi:10.1093/hmg/5.3.367. PMID 8852662.
Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (Oct 1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nature Genetics. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933. S2CID 38035697.
Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C (Dec 1997). "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis". Human Molecular Genetics. 6 (13): 2317–23. doi:10.1093/hmg/6.13.2317. PMID 9361039.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Otto E, Kispert A, Lescher B, Rensing C, Hildebrandt F (Feb 2000). "Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans". Journal of the American Society of Nephrology. 11 (2): 270–82. doi:10.1681/ASN.V112270. PMID 10665934.
Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C (Mar 2000). "Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis". American Journal of Human Genetics. 66 (3): 778–89. doi:10.1086/302819. PMC 1288163. PMID 10712196.
Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664.
Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (Jun 2000). "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis". The Journal of Pediatrics. 136 (6): 828–31. doi:10.1067/mpd.2000.106225. PMID 10839884.
Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. Bibcode:2001PNAS...98.9784B. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F (Nov 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". American Journal of Human Genetics. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563.
Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S (Oct 2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nature Genetics. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321. S2CID 24216974.
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nature Genetics. 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122. S2CID 22062277.

인간 염색체 2번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000144061 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000027378 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)".

[pmid10739664-6] Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664.

[pmid11493697-7] Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. Bibcode:2001PNAS...98.9784B. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.

[pmid12006559-8] Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.

[pmid12872123-9] Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (Aug 2003). "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination". Nature Genetics. 34 (4): 413–20. doi:10.1038/ng1217. PMC 3732175. PMID 12872123.

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v t 섬모단백질
네프로시스틴	NPHP1 인비 NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
기초체	BB썸 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 보호자 MKKS BBS10 BBS12 다른. ARL6 트림32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 인비 NPHP4 NEK8 NPHP1
실리아	연결 섬모 LCA5 RP1 RPGR RPGRIP1 툴프1 일차 섬모 ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
다이닌	외다인 팔 DNAH5 DNAI2 DNAL1 축삭암 DNAH11 DNAI1
레이디얼 스포크	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
다른.	세포질 전교조 핵 GLIS2 편모내 수송 IFT80 다른. AHI1 ARL13B 브릭스3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
참고 항목: 섬모증

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NPHP1

네임스페이스

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목차

기능.

상호 작용

레퍼런스

추가 정보