스핑고미에린포스포디에스테라아제1

SMPD1
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	5JG8
식별자
에일리어스	SMPD1, ASM, ASMase, NPD, 스핑고미에린포스포디에스테라아제1
외부 ID	OMIM: 607608 MGI: 98325 HomoloGene: 457 GenCard: SMPD1
유전자 위치(인간)
크르.	11번 염색체(인간)
끝.	6,394,998 bp
유전자 위치(마우스)
크르.	7번 염색체(쥐)
끝.	105,207,596 bp
RNA발현패턴
	상단 표시 위치:
	자궁내막간질세포; ; 간우엽; ; 뇌하수체 전엽; ; 좌심실; ; 갑상선 우엽; ; 신장; ; 갑상선 좌엽; ; 우부신; ; 상행 대동맥; ; 좌폐 상엽;
	상단 표시 위치:
	심실중격; ; 장피질; ; 심실 심근; ; 우심실; ; 장척근신장; ; 쇄골상핵; ; 어금니; ; 입술; ; 식도; ; 배측피질핵;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	스핑고미에린포스포디에스테라아제활성; 글리코실 결합에 작용하는 가수분해효소 활성; 단백질 결합; 가수분해효소활성; 금속 이온 결합; 아연 이온 결합; 산스핑고미에린포스포디에스테라아제활성; 인산디에스테르 가수분해효소활성;
셀룰러 컴포넌트	내염색체; 혈장막; 층상 과립; 리소좀 루멘; 리소좀; 세포외 엑소좀; 세포외 영역; 세포외 공간;
생물학적 과정	신호 전달 종료; 글리코스핑고지질대사과정; 단백질 탈인산화 양성 조절; 세라마이드생합성법; 신경계의 발달; 스핑고미엘린 이화 과정; MAP인산화효소활성음성조절; 아포토시스 과정의 양성 조절; 대사; 신호 변환; 스핑고미엘린 대사 과정; 코카인에 대한 반응; 세라마이드 대사 과정; 콜레스테롤 대사 과정;
	출처:아미고 / QuickGO
맞춤법
	6609
	20597
	ENSG00000166311
	ENSMUSG000037049
	P17405
	Q04519
	NM_000543; NM_001007593; NM_001318087; NM_001318088; NM_001365135
	NM_011421
	NP_000534; NP_001007594; NP_001305016; NP_001305017; NP_001352064
	NP_035551
	위키데이터
인간 보기/편집	마우스 표시/편집

산 스핑고미에나아제(ASM)로도 알려진 스핑고미엘린 포스포디에스테라아제 1(SMPD1)은 사람에게서 SMPD1 유전자에 의해 암호화되는 효소이다.

스핑고미에린포스포디에스테라아제1은 ^[5]스핑고미에린포스포디에스테라아제군에 속한다.

임상적 의의

SMPD1 유전자의 결함은 SMPD1 관련 ^[5]니만-픽 질환을 유발한다.

파킨슨병의 ^[6]위험인자로서의 SMPD1 유전자의 L302P 돌연변이.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000166311 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000037049 - 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: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".
^ Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A (April 2013). "The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease". Neurology. 80 (17): 1606–10. doi:10.1212/WNL.0b013e31828f180e. PMC 3662322. PMID 23535491.

추가 정보

Stoffel W (November 1999). "Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo". Chemistry and Physics of Lipids. 102 (1–2): 107–21. doi:10.1016/S0009-3084(99)00079-1. PMID 11001565.
Newrzella D, Stoffel W (December 1992). "Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene". Biological Chemistry Hoppe-Seyler. 373 (12): 1233–8. doi:10.1515/bchm3.1992.373.2.1233. PMID 1292508.
Takahashi T, Desnick RJ, Takada G, Schuchman EH (1993). "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease". Human Mutation. 1 (1): 70–1. doi:10.1002/humu.1380010111. PMID 1301192. S2CID 31754300.
Levran O, Desnick RJ, Schuchman EH (October 1992). "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients". Blood. 80 (8): 2081–7. doi:10.1182/blood.V80.8.2081.2081. PMID 1391960.
Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH (June 1992). "Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms". The Journal of Biological Chemistry. 267 (18): 12552–8. doi:10.1016/S0021-9258(18)42312-5. PMID 1618760.
Schuchman EH, Levran O, Suchi M, Desnick RJ (June 1991). "An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)". Nucleic Acids Research. 19 (11): 3160. doi:10.1093/nar/19.11.3160. PMC 328296. PMID 1711683.
Ferlinz K, Hurwitz R, Sandhoff K (September 1991). "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A". Biochemical and Biophysical Research Communications. 179 (3): 1187–91. doi:10.1016/0006-291X(91)91697-B. PMID 1718266.
Schuchman EH, Levran O, Pereira LV, Desnick RJ (February 1992). "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)". Genomics. 12 (2): 197–205. doi:10.1016/0888-7543(92)90366-Z. PMID 1740330.
Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ (May 1991). "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs". The Journal of Biological Chemistry. 266 (13): 8531–9. doi:10.1016/S0021-9258(18)93007-3. PMID 1840600.
Levran O, Desnick RJ, Schuchman EH (September 1991). "Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients". The Journal of Clinical Investigation. 88 (3): 806–10. doi:10.1172/JCI115380. PMC 295465. PMID 1885770.
da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH (February 1991). "Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4". Genomics. 9 (2): 229–34. doi:10.1016/0888-7543(91)90246-B. PMID 2004772.
Levran O, Desnick RJ, Schuchman EH (May 1991). "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients". Proceedings of the National Academy of Sciences of the United States of America. 88 (9): 3748–52. doi:10.1073/pnas.88.9.3748. PMC 51530. PMID 2023926.
Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ (September 1989). "Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts". The EMBO Journal. 8 (9): 2469–73. doi:10.1002/j.1460-2075.1989.tb08382.x. PMC 401234. PMID 2555181.
Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH (July 1995). "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease". Nature Genetics. 10 (3): 288–93. doi:10.1038/ng0795-288. PMID 7670466. S2CID 37065681.
Sperl W, Bart G, Vanier MT, Christomanou H, Baldissera I, Steichen-Gersdorf E, Paschke E (1994). "A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate". Journal of Inherited Metabolic Disease. 17 (1): 93–103. doi:10.1007/BF00735404. PMID 8051942. S2CID 12743175.
Ida H, Rennert OM, Eto Y, Chan WY (July 1993). "Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive". Journal of Biochemistry. 114 (1): 15–20. doi:10.1093/oxfordjournals.jbchem.a124131. PMID 8407868.
Ida H, Rennert OM, Maekawa K, Eto Y (1996). "Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B". Human Mutation. 7 (1): 65–7. doi:10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q. PMID 8664904.
Schuchman EH (1996). "Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X". Human Mutation. 6 (4): 352–4. doi:10.1002/humu.1380060412. PMID 8680412. S2CID 44787586.
Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G (October 1995). "Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease". The Tohoku Journal of Experimental Medicine. 177 (2): 117–23. doi:10.1620/tjem.177.117. PMID 8693491.
Ferlinz K, Hurwitz R, Moczall H, Lansmann S, Schuchman EH, Sandhoff K (January 1997). "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis". European Journal of Biochemistry. 243 (1–2): 511–7. doi:10.1111/j.1432-1033.1997.511_1a.x. PMID 9030779.

외부 링크

산 스핑고미에나아제 결핍증에 대한 GeneReviews/NCBI/NIH/UW 엔트리에는 다음이 포함됩니다.니만 픽 질환 A형, 니만 픽 질환 B형
산 스핑고미에나아제 결핍증에 대한 OMIM 엔트리
PDB for UniProt: P17405(Human Spingomyelin 포스포디에스테라아제)에서 PDBe-KB에서 사용할 수 있는 모든 구조 정보의 개요.

인간 염색체 11번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000166311 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000037049 - 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: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".

[pmid23535491-6] Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A (April 2013). "The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease". Neurology. 80 (17): 1606–10. doi:10.1212/WNL.0b013e31828f180e. PMC 3662322. PMID 23535491.

[1]

[2]

[3]

[4]

[5]

[6]

Search

스핑고미에린포스포디에스테라아제1

네임스페이스

더

목차

임상적 의의

레퍼런스

추가 정보

외부 링크