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2024-04-19 13:32:45, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256717 4529 bp mRNA linear PRI 08-JUL-2013
DEFINITION Homo sapiens synaptosomal-associated protein, 91kDa (SNAP91),
transcript variant 6, mRNA.
ACCESSION NM_001256717
VERSION NM_001256717.1 GI:375493603
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4529)
AUTHORS Maritzen,T., Koo,S.J. and Haucke,V.
TITLE Turning CALM into excitement: AP180 and CALM in endocytosis and
disease
JOURNAL Biol. Cell 104 (10), 588-602 (2012)
PUBMED 22639918
REMARK GeneRIF: AP180 and CALM are endocytic adaptors dedicated to the
sorting of small soluble N-ethylmaleimide-sensitive-factor
attachment protein receptors. (Review)
Review article
REFERENCE 2 (bases 1 to 4529)
AUTHORS Goes FS, Hamshere ML, Seifuddin F, Pirooznia M, Belmonte-Mahon P,
Breuer R, Schulze T, Nothen M, Cichon S, Rietschel M, Holmans P,
Zandi PP, Craddock N and Potash JB.
CONSRTM Bipolar Genome Study (BiGS)
TITLE Genome-wide association of mood-incongruent psychotic bipolar
disorder
JOURNAL Transl Psychiatry 2, E180 (2012)
PUBMED 23092984
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 4529)
AUTHORS Koo,S.J., Markovic,S., Puchkov,D., Mahrenholz,C.C.,
Beceren-Braun,F., Maritzen,T., Dernedde,J., Volkmer,R.,
Oschkinat,H. and Haucke,V.
TITLE SNARE motif-mediated sorting of synaptobrevin by the endocytic
adaptors clathrin assembly lymphoid myeloid leukemia (CALM) and
AP180 at synapses
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 108 (33), 13540-13545 (2011)
PUBMED 21808019
REMARK GeneRIF: unique mechanism of SNARE motif-dependent endocytic
sorting and identify the ANTH domain proteins AP180 and CALM as
cargo-specific adaptors for synaptobrevin endocytosis
REFERENCE 4 (bases 1 to 4529)
AUTHORS Letra,A., Menezes,R., Fonseca,R.F., Govil,M., McHenry,T.,
Murphy,M.J., Hennebold,J.D., Granjeiro,J.M., Castilla,E.E.,
Orioli,I.M., Martin,R., Marazita,M.L., Bjork,B.C. and Vieira,A.R.
TITLE Novel cleft susceptibility genes in chromosome 6q
JOURNAL J. Dent. Res. 89 (9), 927-932 (2010)
PUBMED 20511563
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 4529)
AUTHORS Cao,Y., Xiao,Y., Ravid,R. and Guan,Z.Z.
TITLE Changed clathrin regulatory proteins in the brains of Alzheimer's
disease patients and animal models
JOURNAL J. Alzheimers Dis. 22 (1), 329-342 (2010)
PUBMED 20847448
REMARK GeneRIF: AP180 is significantly decreased in the hippocampus of
Alzheimer's disease patients and in hippocampal neurons of
transgenic mice.
REFERENCE 6 (bases 1 to 4529)
AUTHORS Slepnev,V.I., Ochoa,G.C., Butler,M.H. and De Camilli,P.
TITLE Tandem arrangement of the clathrin and AP-2 binding domains in
amphiphysin 1 and disruption of clathrin coat function by
amphiphysin fragments comprising these sites
JOURNAL J. Biol. Chem. 275 (23), 17583-17589 (2000)
PUBMED 10748223
REFERENCE 7 (bases 1 to 4529)
AUTHORS Traub,L.M., Downs,M.A., Westrich,J.L. and Fremont,D.H.
TITLE Crystal structure of the alpha appendage of AP-2 reveals a
recruitment platform for clathrin-coat assembly
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (16), 8907-8912 (1999)
PUBMED 10430869
REFERENCE 8 (bases 1 to 4529)
AUTHORS Tebar,F., Bohlander,S.K. and Sorkin,A.
TITLE Clathrin assembly lymphoid myeloid leukemia (CALM) protein:
localization in endocytic-coated pits, interactions with clathrin,
and the impact of overexpression on clathrin-mediated traffic
JOURNAL Mol. Biol. Cell 10 (8), 2687-2702 (1999)
PUBMED 10436022
REFERENCE 9 (bases 1 to 4529)
AUTHORS Yao,P.J., Morsch,R., Callahan,L.M. and Coleman,P.D.
TITLE Changes in synaptic expression of clathrin assembly protein AP180
in Alzheimer's disease analysed by immunohistochemistry
JOURNAL Neuroscience 94 (2), 389-394 (1999)
PUBMED 10579202
REFERENCE 10 (bases 1 to 4529)
AUTHORS Murphy,J.E., Hanover,J.A., Froehlich,M., DuBois,G. and Keen,J.H.
TITLE Clathrin assembly protein AP-3 is phosphorylated and glycosylated
on the 50-kDa structural domain
JOURNAL J. Biol. Chem. 269 (33), 21346-21352 (1994)
PUBMED 8063760
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA110036.1, CR749348.1, BC036650.1 and BC044579.1.
Transcript Variant: This variant (6) differs in the 5' UTR, lacks a
portion of the 5' coding region, and initiates translation at a
downstream start codon, compared to variant 1. The encoded isoform
(d) has a distinct N-terminus and is shorter than isoform a.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: CR749348.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-33 DA110036.1 284-316
34-2666 CR749348.1 1-2633
2667-3235 BC036650.1 2297-2865
3236-4506 CR749348.1 3203-4473
4507-4529 BC044579.1 4334-4356
FEATURES Location/Qualifiers
source 1..4529
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q14.2"
gene 1..4529
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/note="synaptosomal-associated protein, 91kDa"
/db_xref="GeneID:9892"
/db_xref="HGNC:14986"
/db_xref="MIM:607923"
exon 1..83
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 84..243
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 244..457
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 458..553
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 554..679
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
misc_feature 634..636
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/note="upstream in-frame stop codon"
CDS 655..3105
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/note="isoform d is encoded by transcript variant 6;
clathrin coat assembly protein AP180; assembly protein,
180kDa; phosphoprotein F1-20; 91 kDa
synaptosomal-associated protein; clathrin coat-associated
protein AP180; synaptosomal-associated protein, 91kDa
homolog"
/codon_start=1
/product="clathrin coat assembly protein AP180 isoform d"
/protein_id="NP_001243646.1"
/db_xref="GI:375493604"
/db_xref="GeneID:9892"
/db_xref="HGNC:14986"
/db_xref="MIM:607923"
/translation="
MRAFKNNNNLIQATNETNVNIPQMADTLFERATNSSWVVVFKALVTTHHLMVHGNERFIQYLASRNTLFNLSNFLDKSGSHGYDMSTFIRRYSRYLNEKAFSYRQMAFDFARVKKGADGVMRTMAPEKLLKSMPILQGQIDALLEFDVHPNELTNGVINAAFMLLFKDLIKLFACYNDGVINLLEKFFEMKKGQCKDALEIYKRFLTRMTRVSEFLKVAEQVGIDKGDIPDLTQAPSSLMETLEQHLNTLEGKKPGNKSGAPSPLSKSSPATTVTSPNSTPAKTIDTSPPVDLFATASAAVPVSTSKPSSDLLDLQPDFSSGGAAAAAAPAPPPPAGGATAWGDLLGEDSLAALSSVPSEAQISDPFAPEPTPPTTTAEIATASASASTTTTVTAVTAEVDLFGDAFAASPGEAPAASEGAAAPATPTPVAAALDACSGNDPFAPSEGSAEAAPELDLFAMKPPETSVPVVTPTASTAPPVPATAPSPAPAVAAAAAATTAATAAATTTTTTSAATATTAPPALDIFGDAFSSPPQGASPVPESSLTADLLSDAFGSSASEPQPASQAASSSSASADLLAGFGGSFMAPSPSPVTPAQNNLLQPNFEAAFGTTPSTSSSSSFDPSVFDGLGDLLMPTMAPAGQPAPVSMVPPSPAMAASKALGSDLDSSLASLVGNLGISGTTTKKGDLQWNAGEKKLTGGANWQPKVAPATWSAGVPPSAPLQGAVPPTSSVPPVAGAPSVGQPGAGFGMPPAGTGMPMMPQQPVMFAQPMMRPPFGAAAVPGTQLSPSPTPASQSPKKPPAKDPLADLNIKDFL
"
misc_feature 682..963
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/note="ANTH domain family; composed of adaptor protein 180
(AP180), clathrin assembly lymphoid myeloid leukemia
protein (CALM) and similar proteins. A set of proteins
previously designated as harboring an ENTH domain in fact
contains a highly similar, yet...; Region:
ANTH_AP180_CALM; cd03564"
/db_xref="CDD:48660"
exon 680..822
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 823..898
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 899..1001
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1002..1095
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1096..1207
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1208..1314
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1315..1356
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1357..1427
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1428..1455
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1456..1565
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1566..1684
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1685..1699
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1700..1867
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1868..1975
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 1976..2239
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
variation 2083
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/replace="a"
/replace="c"
/db_xref="dbSNP:201225753"
exon 2240..2311
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 2312..2395
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 2396..2530
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 2531..2680
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 2681..2711
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 2712..2823
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
STS 2796..2917
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/standard_name="D19S703E"
/db_xref="UniSTS:150603"
exon 2824..2907
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
STS 2846..2964
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/standard_name="MARC_21740-21741:1023217238:1"
/db_xref="UniSTS:268621"
exon 2908..3012
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 3013..3115
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
exon 3116..4516
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/inference="alignment:Splign:1.39.8"
variation 3139
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/replace="c"
/replace="g"
/db_xref="dbSNP:3778198"
STS 4196..4314
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/standard_name="RH1538"
/db_xref="UniSTS:52459"
variation 4352
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/replace="a"
/replace="t"
/db_xref="dbSNP:1061180"
variation 4479
/gene="SNAP91"
/gene_synonym="AP180; CALM"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061182"
ORIGIN
gtggtgcgcgagcccagtgcgtgccgggtgcggcgccagcagcggaggggcggcccggcgcccagcggagagccgctggctggaagaggaggcggtagacgcgaccacagaagatgtcgggccaaacgctcacggatcggatcgccgccgctcagtacagcgttacaggctctgctgtagcaagagcggtctgcaaagccactactcatgaagtaatgggccccaagaaaaagcacctggactacctacaaaccttctttcaacaagtgcttcctaattttgagatctgaaagtatgttccagcatcttttgagtcatacaaccaaagtatgaggagatcacaagtcttttaaaaagttgtgctaaaggagaaatacttcagaaatatgttacatttgttttggatcacagtattatttatttctcaagaagagatttgttcatcatagtagtattagcccggtgcaggaagaactcaagtaaaagacaagaaaaaacaaaaaacagtgttgattgtgggatattaaggaaggctagaatttaagcaactgagtaaagtaaaatgatgtactgagaactaaagttgtattccttggtacttccgagagaaaacagacttggatttttattggatgattcctcctaggaagtaagatgagggcgttcaagaataataacaatttgatccaggctaccaacgagaccaatgttaatattcctcagatggccgacactctctttgagcgggcaacaaacagtagctgggtggttgtgtttaaggctttagtgacaacacatcatctcatggtgcatggaaatgagagatttattcaatatttggcttctagaaatacactattcaatctcagcaattttttggacaaaagtggatcccatggttatgatatgtctaccttcataaggcgctatagtagatatttgaatgaaaaggctttttcttacagacagatggcctttgattttgccagggtgaagaaaggggccgatggtgtaatgaggacaatggctcccgaaaagctgctaaagagtatgccaatactacagggacaaattgatgcactgcttgaatttgatgtgcatccaaatgaactaacaaatggtgtcataaatgcagcatttatgcttcttttcaaagatcttatcaaactttttgcttgctacaatgatggtgttattaacttactcgaaaagttttttgaaatgaagaaaggacaatgtaaagatgctctagaaatttacaaacgatttctaactagaatgacacgagtgtctgaatttctcaaggttgcagagcaagttggtattgataaaggtgacattcctgacctcacacaggctcccagcagtcttatggagacgcttgaacagcatctaaatacattagaaggaaagaaacctggaaacaaatctggtgctccctctccattaagtaagtcttctccagccacaactgttacgtctcctaattctacaccagctaaaactattgacacatccccaccggttgatttatttgcaactgcatctgcggctgtcccagtcagcacttctaaaccatctagtgatctcctggacctccagccagacttttcctctggaggggcagcagcagccgcagcaccagcaccaccaccacctgctggaggagccactgcatggggagaccttttgggagaggattctttggctgcactttcctctgttccctctgaagcacagatttcagatccatttgcaccagaacctacccctcctactacaactgctgaaattgcaactgcctcagcttctgcctccactactacaactgttactgctgtcactgctgaagtggatctctttggagatgcctttgcagcttctcctggggaggcccctgcagcatccgaaggggccgccgcaccagctaccccaacccctgtagcagcagcacttgatgcatgttcaggaaatgacccctttgccccgtctgaaggtagtgcagaggctgcacctgagctggacctctttgcaatgaagccacctgagaccagtgttcctgtagttacccctacagctagcacagcccctccagttcccgcaactgctccttctcctgctcctgccgttgcagctgctgctgctgccactactgctgccaccgccgctgccaccaccactaccaccacctccgctgccaccgccaccactgctcctcctgctctagatatctttggtgatgctttctcctctccaccacaaggggcctctcctgtgcctgagagttctctcactgctgacctcttatctgatgcatttggaagtagtgcttctgaaccccaacctgcatctcaggctgcttctagttcatcagcatcggcagacctactagctggatttgggggttctttcatggcgccttccccatctccagtgactccagctcagaataacctgctacagcccaattttgaggcagcttttgggacaacgccttcaacttccagcagcagctcctttgatccatcagtgtttgatggtctaggtgatcttttgatgccaaccatggcaccagctgggcagcctgcacctgtctcaatggtaccacccagtcctgcaatggcagccagcaaagcccttggaagtgatcttgattcatctcttgccagcttagtaggcaatcttggaatttctggtaccacaacaaaaaagggagatcttcagtggaatgctggagagaaaaagttgactggtggagccaactggcagcctaaagtagctccagcaacctggtcagcaggcgttccaccaagtgcacctttgcaaggagctgtacctccaaccagttcagttcctcctgttgccggggccccatcggttggacaacctggagcaggatttggaatgcctcctgctgggacaggcatgcccatgatgcctcagcagccggtcatgtttgcacagcccatgatgaggcccccctttggagctgccgctgtacctggcacgcagctttctccaagccctacacctgccagtcagagtcccaagaaacctccagcaaaggacccattagcggatcttaacatcaaggatttcttgtaaacaatttaagctgcaatatttgtgactgaataggaaaataaatgagtttggagacttcaaataagattgatgctgagtttcaaagggagccaccagtaccaaacccaatacttactcataacttctcttccaaaatgtgtaacacagccgtgaaagtgaacattaggaatatgtactaccttagctgttatccctactcttgaaattgtagtgtatttggattatttgtgtattgtacgatgtaaacaatgaatggatgttactgatgccgttagtgcttttttggacttcacctgaggacagatgatgcagctgttgtgtggcgagctatttggaaagacgtctgtgtttttgaaggtttcaatgtacatataacttttgaacaaaccccaaactcttcccataaattatcttttcttctgtatctctgttacaagcgtagtgtgataataccagataataaggaaaacactcataaatatacaaaactttttcagtgtggagtacatttttccaatcacaggaacttcaactgttgtgagaaatgtttatttttgtggcactgtatatgttaagaaattttattttaaaaaatataaaggttaacgtccataataaatacttctctttgaagctaccttatcaagaacgaaaaatcgtatgggaagaatcccctatttatcactgctatattaaaatatatatattttaattatatttgacaggttttgcatctaaattgacctatttattcattcttgattaaatgcactgaaaagtaaagggtctgtttgtgtcatgttcatgaaaatgcggttagagaggtgctattcaagtgattctgaaggcaccccaaggtatatctgtaatttaaagattactgcaaatatctttactttactgtgggtttttagtacatctgttaatttagtgtttctttgtgtgttttgtagactagtgttcttccatccttcaactgagctcaaagtaggttttgttgtaacattgtgattaggatttaaactaattcagagaattgtatcttttactgtacatactgtattctttaagttttaatttgttgtcatactgtctgtgctgatggcttggcttaagattttgatgcataaatgaggtcactgttgatcagtgttgctagtagcttggcagctcttcataaaagcatattgggttggaaaggtgtttgcctatttttcaaattatttaatagatgtatggtaccatttaaaagtggttgtatctgaatttactgtggggataacatacactgtaatggggaaaaattacctaaaaccaatttcaaaatggctttctttgtatttcagtttaaaaacccagtgcatgtacgccctctgagatgcaataaacaccttgaacaaagaaatgcaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9892 -> Molecular function: GO:0005545 [1-phosphatidylinositol binding] evidence: IEA
GeneID:9892 -> Molecular function: GO:0030276 [clathrin binding] evidence: IEA
GeneID:9892 -> Biological process: GO:0048268 [clathrin coat assembly] evidence: IEA
GeneID:9892 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:9892 -> Cellular component: GO:0005905 [coated pit] evidence: IEA
GeneID:9892 -> Cellular component: GO:0030118 [clathrin coat] evidence: IEA
by
@meso_cacase at
DBCLS
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