human-SPG21

Homo sapiens (Human) Maspardin spg21 acid cluster protein 33 ACP33 sbm-019 (gl010)flj24010 Maspardin

Comment

Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003)\; In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome: Onset in the late teens or twenties and slow progression, an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia. A 1-bp insertion (601insA) in the ACP33 gene, causing a frameshift and premature termination of the protein was found (Simpson et al 2003). Ishiura et al. (2014) reported 2 Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) The mutation was A108P substitution. ACP33 binds the intracellular domain of CD4. Mutation S109A abolishes the interraction. S109 is in similar position as active site serine of a\/b hydrolase (Zeitlmann 2001). Maspardin interacts with the aldehyde dehydrogenase ALDH16A1 (Hanna 2009)

Relationship

Family : Maspardin-ACP33-SPG21_like

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

No mutation

No structure

No kinetic

No substrate

No inhibitor

Sequence

Peptide

MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP PVSGTADVFF RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL DKVHLFGASL GGFLAQKFAE YTHKSPRVHS LILCNSFSDT SIFNQTWTAN SFWLMPAFML KKIVLGNFSS GPVDPMMADA IDFMVDRLES LGQSELASRL TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK LYPNARRAHL KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS LGISQEEQ

References (15)

Title : Mast Syndrome Outside the Amish Community: SPG21 in Europe - Amprosi_2022_Front.Neurol_12_799953
Author(s) : Amprosi M , Indelicato E , Nachbauer W , Hussl A , Stendel C , Eigentler A , Gallenmuller C , Boesch S , Klopstock T
Ref : Front.Neurol , 12 :799953 , 2022
PubMedID:
Gene_locus related to this paper: human-SPG21

Title : Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome - Xue_2021_CNS.Neurosci.Ther__
Author(s) : Xue YY , Huang XR , Dong HL , Wu ZY , Li HF
Ref : CNS Neurosci Ther , : , 2021
PubMedID: 34492745
Gene_locus related to this paper: human-SPG21

Title : Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21 -
Author(s) : Scarlato M , Citterio A , Barbieri A , Godi C , Panzeri E , Bassi MT
Ref : Journal of Neurology , 264 :2021 , 2017
PubMedID: 28752238
Gene_locus related to this paper: human-SPG21

Title : Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses - Ishiura_2014_J.Hum.Genet_59_163
Author(s) : Ishiura H , Takahashi Y , Hayashi T , Saito K , Furuya H , Watanabe M , Murata M , Suzuki M , Sugiura A , Sawai S , Shibuya K , Ueda N , Ichikawa Y , Kanazawa I , Goto J , Tsuji S
Ref : J Hum Genet , 59 :163 , 2014
PubMedID: 24451228
Gene_locus related to this paper: human-SPG21

Title : Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance - Finsterer_2012_J.Neurol.Sci_318_1
Author(s) : Finsterer J , Loscher W , Quasthoff S , Wanschitz J , Auer-Grumbach M , Stevanin G
Ref : Journal of Neurology Sci , 318 :1 , 2012
PubMedID: 22554690
Gene_locus related to this paper: human-SPG21

Title : [Study of the effect and mechanism of spastic paraplegia 21 protein on the replication of hepatitis B virus] - Gao_2011_Zhonghua.Gan.Zang.Bing.Za.Zhi_19_747
Author(s) : Gao GS , Weng PJ , Li RY , Ding SX
Ref : Zhonghua Gan Zang Bing Za Zhi , 19 :747 , 2011
PubMedID: 22409846
Gene_locus related to this paper: human-SPG21

Title : Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons - Soderblom_2010_Neurogenetics_11_369
Author(s) : Soderblom C , Stadler J , Jupille H , Blackstone C , Shupliakov O , Hanna MC
Ref : Neurogenetics , 11 :369 , 2010
PubMedID: 20661613
Gene_locus related to this paper: human-SPG21 , mouse-SPG21

Title : Interaction of the SPG21 protein ACP33\/maspardin with the aldehyde dehydrogenase ALDH16A1 - Hanna_2009_Neurogenetics_10_217
Author(s) : Hanna MC , Blackstone C
Ref : Neurogenetics , 10 :217 , 2009
PubMedID: 19184135
Gene_locus related to this paper: human-SPG21 , mouse-SPG21

Title : Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain? - Kedmi_2007_Physiol.Genomics_28_213
Author(s) : Kedmi M , Orr-Urtreger A
Ref : Physiol Genomics , 28 :213 , 2007
PubMedID: 16985005
Gene_locus related to this paper: human-SPG21

Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147
Author(s) : Simpson MA , Cross H , Proukakis C , Pryde A , Hershberger R , Chatonnet A , Patton MA , Crosby AH
Ref : American Journal of Human Genetics , 73 :1147 , 2003
PubMedID: 14564668
Gene_locus related to this paper: human-SPG21

Title : Cloning of ACP33 as a novel intracellular ligand of CD4 - Zeitlmann_2001_J.Biol.Chem_276_9123
Author(s) : Zeitlmann L , Sirim P , Kremmer E , Kolanus W
Ref : Journal of Biological Chemistry , 276 :9123 , 2001
PubMedID: 11113139
Gene_locus related to this paper: human-SPG21 , mouse-SPG21

Title : The sequence of the human genome - Venter_2001_Science_291_1304
Author(s) : Venter JC , Adams MD , Myers EW , Li PW , Mural RJ , Sutton GG , Smith HO , Yandell M , Evans CA , Holt RA , Gocayne JD , Amanatides P , Ballew RM , Huson DH , Wortman JR , Zhang Q , Kodira CD , Zheng XH , Chen L , Skupski M , Subramanian G , Thomas PD , Zhang J , Gabor Miklos GL , Nelson C , Broder S , Clark AG , Nadeau J , McKusick VA , Zinder N , Levine AJ , Roberts RJ , Simon M , Slayman C , Hunkapiller M , Bolanos R , Delcher A , Dew I , Fasulo D , Flanigan M , Florea L , Halpern A , Hannenhalli S , Kravitz S , Levy S , Mobarry C , Reinert K , Remington K , Abu-Threideh J , Beasley E , Biddick K , Bonazzi V , Brandon R , Cargill M , Chandramouliswaran I , Charlab R , Chaturvedi K , Deng Z , Di Francesco V , Dunn P , Eilbeck K , Evangelista C , Gabrielian AE , Gan W , Ge W , Gong F , Gu Z , Guan P , Heiman TJ , Higgins ME , Ji RR , Ke Z , Ketchum KA , Lai Z , Lei Y , Li Z , Li J , Liang Y , Lin X , Lu F , Merkulov GV , Milshina N , Moore HM , Naik AK , Narayan VA , Neelam B , Nusskern D , Rusch DB , Salzberg S , Shao W , Shue B , Sun J , Wang Z , Wang A , Wang X , Wang J , Wei M , Wides R , Xiao C , Yan C , Yao A , Ye J , Zhan M , Zhang W , Zhang H , Zhao Q , Zheng L , Zhong F , Zhong W , Zhu S , Zhao S , Gilbert D , Baumhueter S , Spier G , Carter C , Cravchik A , Woodage T , Ali F , An H , Awe A , Baldwin D , Baden H , Barnstead M , Barrow I , Beeson K , Busam D , Carver A , Center A , Cheng ML , Curry L , Danaher S , Davenport L , Desilets R , Dietz S , Dodson K , Doup L , Ferriera S , Garg N , Gluecksmann A , Hart B , Haynes J , Haynes C , Heiner C , Hladun S , Hostin D , Houck J , Howland T , Ibegwam C , Johnson J , Kalush F , Kline L , Koduru S , Love A , Mann F , May D , McCawley S , McIntosh T , McMullen I , Moy M , Moy L , Murphy B , Nelson K , Pfannkoch C , Pratts E , Puri V , Qureshi H , Reardon M , Rodriguez R , Rogers YH , Romblad D , Ruhfel B , Scott R , Sitter C , Smallwood M , Stewart E , Strong R , Suh E , Thomas R , Tint NN , Tse S , Vech C , Wang G , Wetter J , Williams S , Williams M , Windsor S , Winn-Deen E , Wolfe K , Zaveri J , Zaveri K , Abril JF , Guigo R , Campbell MJ , Sjolander KV , Karlak B , Kejariwal A , Mi H , Lazareva B , Hatton T , Narechania A , Diemer K , Muruganujan A , Guo N , Sato S , Bafna V , Istrail S , Lippert R , Schwartz R , Walenz B , Yooseph S , Allen D , Basu A , Baxendale J , Blick L , Caminha M , Carnes-Stine J , Caulk P , Chiang YH , Coyne M , Dahlke C , Mays A , Dombroski M , Donnelly M , Ely D , Esparham S , Fosler C , Gire H , Glanowski S , Glasser K , Glodek A , Gorokhov M , Graham K , Gropman B , Harris M , Heil J , Henderson S , Hoover J , Jennings D , Jordan C , Jordan J , Kasha J , Kagan L , Kraft C , Levitsky A , Lewis M , Liu X , Lopez J , Ma D , Majoros W , McDaniel J , Murphy S , Newman M , Nguyen T , Nguyen N , Nodell M , Pan S , Peck J , Peterson M , Rowe W , Sanders R , Scott J , Simpson M , Smith T , Sprague A , Stockwell T , Turner R , Venter E , Wang M , Wen M , Wu D , Wu M , Xia A , Zandieh A , Zhu X
Ref : Science , 291 :1304 , 2001
PubMedID: 11181995
Gene_locus related to this paper: human-AADAC , human-ABHD1 , human-ABHD10 , human-ABHD11 , human-ACHE , human-BCHE , human-LDAH , human-ABHD18 , human-CMBL , human-ABHD17A , human-KANSL3 , human-LIPA , human-LYPLAL1 , human-NDRG2 , human-NLGN3 , human-NLGN4X , human-NLGN4Y , human-PAFAH2 , human-PREPL , human-RBBP9 , human-SPG21

Title : Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances -
Author(s) : Cross HE
Ref : Birth Defects Orig Artic Ser , 7 :214 , 1971
PubMedID: 5173363
Gene_locus related to this paper: human-SPG21

Title : The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances -
Author(s) : Cross HE , McKusick VA
Ref : Archives of Neurology , 16 :1 , 1967
PubMedID: 6024251
Gene_locus related to this paper: human-SPG21