LOCUS       NM_007166               4134 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens phosphatidylinositol binding clathrin assembly protein
            (PICALM), transcript variant 1, mRNA.
ACCESSION   NM_007166
VERSION     NM_007166.4
KEYWORDS    RefSeq; MANE Select.
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 4134)
  AUTHORS   Gaugel,J., Haacke,N., Sehgal,R., Jahnert,M., Jonas,W., Hoffmann,A.,
            Bluher,M., Ghosh,A., Noe,F., Wolfrum,C., Tan,J., Schurmann,A.,
            Fazakerley,D.J. and Vogel,H.
  TITLE     Picalm, a novel regulator of GLUT4-trafficking in adipose tissue
  JOURNAL   Mol Metab 88, 102014 (2024)
   PUBMED   39182843
  REMARK    GeneRIF: Picalm, a novel regulator of GLUT4-trafficking in adipose
            tissue.
REFERENCE   2  (bases 1 to 4134)
  AUTHORS   Wu,Z., Chen,J., Liu,Y., Yang,Y., Feng,M. and Dai,H.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     The Effects of PICALM rs3851179 and Age on Brain Atrophy and
            Cognition Along the Alzheimer's Disease Continuum
  JOURNAL   Mol Neurobiol 61 (9), 6984-6996 (2024)
   PUBMED   38363532
  REMARK    GeneRIF: The Effects of PICALM rs3851179 and Age on Brain Atrophy
            and Cognition Along the Alzheimer's Disease Continuum.
REFERENCE   3  (bases 1 to 4134)
  AUTHORS   Liu,Y.B., Wang,X.J., Tan,L., Tan,C.C. and Xu,W.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     PICALM Variation Moderates the Relationships of APOE varepsilon4
            with Alzheimer's Disease Cerebrospinal Biomarkers and Memory
            Function Among Non-Demented Population
  JOURNAL   J Alzheimers Dis 96 (4), 1651-1661 (2023)
   PUBMED   38007652
  REMARK    GeneRIF: PICALM Variation Moderates the Relationships of APOE
            varepsilon4 with Alzheimer's Disease Cerebrospinal Biomarkers and
            Memory Function Among Non-Demented Population.
REFERENCE   4  (bases 1 to 4134)
  AUTHORS   Ando,K., Nagaraj,S., Kucukali,F., de Fisenne,M.A., Kosa,A.C.,
            Doeraene,E., Lopez Gutierrez,L., Brion,J.P. and Leroy,K.
  TITLE     PICALM and Alzheimer's Disease: An Update and Perspectives
  JOURNAL   Cells 11 (24), 3994 (2022)
   PUBMED   36552756
  REMARK    GeneRIF: PICALM and Alzheimer's Disease: An Update and
            Perspectives.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4134)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (bases 1 to 4134)
  AUTHORS   Kim,J.A., Kim,S.R., Jung,Y.K., Woo,S.Y., Seoh,J.Y., Hong,Y.S. and
            Kim,H.L.
  TITLE     Properties of GST-CALM expressed in E. coli
  JOURNAL   Exp Mol Med 32 (2), 93-99 (2000)
   PUBMED   10926122
REFERENCE   7  (bases 1 to 4134)
  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   8  (bases 1 to 4134)
  AUTHORS   Silliman,C.C., McGavran,L., Wei,Q., Miller,L.A., Li,S. and
            Hunger,S.P.
  TITLE     Alternative splicing in wild-type AF10 and CALM cDNAs and in
            AF10-CALM and CALM-AF10 fusion cDNAs produced by the
            t(10;11)(p13-14;q14-q21) suggests a potential role for truncated
            AF10 polypeptides
  JOURNAL   Leukemia 12 (9), 1404-1410 (1998)
   PUBMED   9737689
REFERENCE   9  (bases 1 to 4134)
  AUTHORS   Dreyling,M.H., Martinez-Climent,J.A., Zheng,M., Mao,J., Rowley,J.D.
            and Bohlander,S.K.
  TITLE     The t(10;11)(p13;q14) in the U937 cell line results in the fusion
            of the AF10 gene and CALM, encoding a new member of the AP-3
            clathrin assembly protein family
  JOURNAL   Proc Natl Acad Sci U S A 93 (10), 4804-4809 (1996)
   PUBMED   8643484
REFERENCE   10 (bases 1 to 4134)
  AUTHORS   Ron,D. and Habener,J.F.
  TITLE     CHOP, a novel developmentally regulated nuclear protein that
            dimerizes with transcription factors C/EBP and LAP and functions as
            a dominant-negative inhibitor of gene transcription
  JOURNAL   Genes Dev 6 (3), 439-453 (1992)
   PUBMED   1547942
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000767.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_007166.3.
            
            Summary: This gene encodes a clathrin assembly protein, which
            recruits clathrin and adaptor protein complex 2 (AP2) to cell
            membranes at sites of coated-pit formation and clathrin-vesicle
            assembly. The protein may be required to determine the amount of
            membrane to be recycled, possibly by regulating the size of the
            clathrin cage. The protein is involved in AP2-dependent
            clathrin-mediated endocytosis at the neuromuscular junction. A
            chromosomal translocation t(10;11)(p13;q14) leading to the fusion
            of this gene and the MLLT10 gene is found in acute lymphoblastic
            leukemia, acute myeloid leukemia and malignant lymphomas. The
            polymorphisms of this gene are associated with the risk of
            Alzheimer disease. Multiple alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: BC048259.1, SRR14038196.3520035.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393346.8/ ENSP00000377015.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-434               AP000767.4         136584-137017       c
            435-577             AP000767.4         99402-99544         c
            578-653             AP000767.4         94225-94300         c
            654-756             AP000767.4         90301-90403         c
            757-850             AP000767.4         82804-82897         c
            851-962             AP000767.4         80215-80326         c
            963-1069            AP000767.4         78964-79070         c
            1070-1111           AP000767.4         75476-75517         c
            1112-1197           AP000767.4         71300-71385         c
            1198-1321           AP000767.4         68969-69092         c
            1322-1458           AP000767.4         68577-68713         c
            1459-1562           AP000767.4         64760-64863         c
            1563-1712           AP000767.4         58184-58333         c
            1713-1820           AP000767.4         51800-51907         c
            1821-1952           AP000767.4         49806-49937         c
            1953-1983           AP000767.4         49679-49709         c
            1984-2083           AP000767.4         49063-49162         c
            2084-2143           AP000767.4         44557-44616         c
            2144-2248           AP000767.4         42642-42746         c
            2249-4134           AP000767.4         25109-26994         c
FEATURES             Location/Qualifiers
     source          1..4134
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     gene            1..4134
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /note="phosphatidylinositol binding clathrin assembly
                     protein"
                     /db_xref="GeneID:8301"
                     /db_xref="HGNC:HGNC:15514"
                     /db_xref="MIM:603025"
     exon            1..434
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             305..2263
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     clathrin assembly lymphoid myeloid leukemia protein"
                     /codon_start=1
                     /product="phosphatidylinositol-binding clathrin assembly
                     protein isoform 1"
                     /protein_id="NP_009097.2"
                     /db_xref="CCDS:CCDS8272.1"
                     /db_xref="GeneID:8301"
                     /db_xref="HGNC:HGNC:15514"
                     /db_xref="MIM:603025"
                     /translation="MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDY
                     LIQCTNEMNVNIPQLADSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNT
                     LFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMN
                     TEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINL
                     LEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLD
                     ALEQHLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQAR
                     LKALKEQRLKELAKKPHTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPND
                     LLDLQQPTFHPSVHPMSTASQVASTWGDPFSATVDAVDDAIPSLNPFLTKSSGDVHLS
                     ISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDSGGFD
                     ELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKNDVNWSQ
                     PGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAYPATTPTGMIGYGIPPQMGSVPVMT
                     QPTLIYSQPVMRPPNPFGPVSGAQIQFM"
     exon            435..577
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            578..653
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            654..756
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            757..850
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            851..962
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1069
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1111
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1197
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1321
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1458
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1562
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1712
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1820
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1821..1952
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1953..1983
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2083
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2084..2143
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2144..2248
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..4134
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3603..3608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /note="hexamer: AATAAA"
     polyA_site      3625
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /note="major polyA site"
     regulatory      4081..4086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /note="hexamer: AATAAA"
     polyA_site      4102
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
     regulatory      4114..4119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /note="hexamer: ATTAAA"
     polyA_site      4134
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
ORIGIN      
        1 gccattttcc tgcagctgcc tgttcctctt accctgcccg gctccagctg acccgggaag
       61 gggtgggctg aactgaggcg ggggcaaggg agtgcccgac atcttgtccg actccgcggg
      121 tgacacgagc cggttctctc tggactggtg gcagcgcgcg gccccgaacc gcgccccagg
      181 ccggcaggcg gggaaggagc cggtgggggt agggggtgcg gtggggggtg gggaccctcc
      241 ggctcttggg ggtcccagtc cccgccggct gctgagcggg tggggtggtg gaggagctgc
      301 agagatgtcc ggccagagcc tgacggaccg aatcactgcc gcccagcaca gtgtcaccgg
      361 ctctgccgta tccaagacag tatgcaaggc cacgacccac gagatcatgg ggcccaagaa
      421 aaagcacctg gactacttaa ttcagtgcac aaatgagatg aatgtgaaca tcccacagtt
      481 ggcagacagt ttatttgaaa gaactactaa tagtagttgg gtggtggtct tcaaatctct
      541 cattacaact catcatttga tggtgtatgg aaatgagcgt tttattcagt atttggcttc
      601 aagaaacacg ttgtttaact taagcaattt tttggataaa agtggattgc aaggatatga
      661 catgtctaca tttattaggc ggtatagtag atatttaaat gagaaagcag tttcatacag
      721 acaagttgca tttgatttca caaaagtgaa gagaggggct gatggagtta tgagaacaat
      781 gaacacagaa aaactcctaa aaactgtacc aattattcag aatcagatgg atgcacttct
      841 tgattttaat gttaatagca atgaacttac aaatggggta ataaatgctg ccttcatgct
      901 cctgttcaaa gatgccatta gactgtttgc agcatacaat gaaggaatta ttaatttgtt
      961 ggaaaaatat tttgatatga aaaagaacca atgcaaagaa ggtcttgaca tctataagaa
     1021 gttcctaact aggatgacaa gaatctcaga gttcctcaaa gttgcagagc aagttggaat
     1081 tgacagaggt gatataccag acctttcaca ggcccctagc agtcttcttg atgctttgga
     1141 acaacattta gcttccttgg aaggaaagaa aatcaaagat tctacagctg caagcagggc
     1201 aactacactt tccaatgcag tgtcttccct ggcaagcact ggtctatctc tgaccaaagt
     1261 ggatgaaagg gaaaagcagg cagcattaga ggaagaacag gcacgtttga aagctttaaa
     1321 ggaacagcgc ctaaaagaac ttgcaaagaa acctcatacc tctttaacaa ctgcagcctc
     1381 tcctgtatcc acctcagcag gagggataat gactgcacca gccattgaca tattttctac
     1441 ccctagttct tctaacagca catcaaagct gcccaatgat ctgcttgatt tgcagcagcc
     1501 aacttttcac ccatctgtac atcctatgtc aactgcttct caggtagcaa gtacatgggg
     1561 agatcctttc tctgctactg tagatgctgt tgatgatgcc attccaagct taaatccttt
     1621 cctcacaaaa agtagtggtg atgttcacct ttccatttct tcagatgtat ctacttttac
     1681 tactaggaca cctactcatg aaatgtttgt tggattcact ccttctccag ttgcacagcc
     1741 acacccttca gctggcctta atgttgactt tgaatctgtg tttggaaata aatctacaaa
     1801 tgttattgta gattctgggg gctttgatga actaggtgga cttctcaaac caacagtggc
     1861 ctctcagaac cagaaccttc ctgttgccaa actcccacct agcaagttag tatctgatga
     1921 cttggattca tctttagcca accttgtggg caatcttggc atcggaaatg gaaccactaa
     1981 gaatgatgta aattggagtc aaccaggtga aaagaagtta actgggggat ctaactggca
     2041 accaaaggtt gcaccaacaa ccgcttggaa tgctgcaaca atggcacccc ctgtaatggc
     2101 ctatcctgct actacaccaa caggcatgat aggatatgga attcctccac aaatgggaag
     2161 tgttcctgta atgacgcaac caaccttaat atacagccag cctgtcatga gacctccaaa
     2221 cccctttggc cctgtatcag gagcacagat acagtttatg taacttgatg gaagaaaatg
     2281 gaattactcc aaaaagacaa gtgctcaagc agcaaaatcc ttacttccag caaaatccaa
     2341 actgctgtct cttaaatctc ttaaactctc ttcttccatt agaatgctac aagtaactca
     2401 gtgaaggccc atgaaggaaa ttgggactag tttataggag aacgtatcaa tacagtttat
     2461 aaagccaaga attgctatga tttaagacta agatctgtct ttttggtgac taacccttca
     2521 attctttcaa ctcctgttaa tacccataat cagtaaccta tcaagaaaag cccttatttg
     2581 gaaagtgtga aatttgtatt tggaaaagct gcctggagag aagaactgtg tcctttactg
     2641 tatttcaaca ggactctttt gggggatcaa aattaaaatt cctaattatg cattatcttt
     2701 cttttctcca gtcctcacaa atacagaaac aataactgaa attaactttt ctttttttaa
     2761 aaaaaattat attcagtttg cagtagacat tccttaagta tttgtattta tttatgatta
     2821 tcaattttac ataacattaa tattgtatca gacctcctta tgaaaatgag tatggatgtg
     2881 cacagtatgt ttgattttta tccacaagaa tgaatctgat tcagaatgct tttctcagct
     2941 gacatacaga gcactaaata ttttaaggca agtccatagg tctgaatctc ttaagaattc
     3001 tcggcctctg tgggatttag ggaagcatta taaatgcatt aatccttata gtcaattctg
     3061 tgcctaggat tttgccaggg aacagttcac tgactaggaa aagcactaca ttttaaattc
     3121 agcattagtg cattgggaag gatctttact gctttgtgct tggcatgtca ttattttcca
     3181 tttgacatta gggcctttcc aaaatgaatg tgaggaattg ctttcacttc aagactttcc
     3241 ttcttttcac taaaactcta gaaggtgtta caagggggag ggaagggggg caaagtcctt
     3301 gaacattttc tttggctcgt gccatgttat gatcatatac cttttaaata aggggaaata
     3361 gtatctttaa agttaatgtc tagccaagag tttagtaaac gaagaattaa actgcactgt
     3421 tgatcggtgc tttgtgtaaa tacatcttta acatttgggt ggagaggggc cttaagaagg
     3481 acagttcatt gtaggaaagc aattctgtac atgagtttaa gcattcttgt tgcattgtct
     3541 ctgcagattc tatttttgtt tacaatatta aaatgtatgt tagcaaaatg ggtggatttt
     3601 caaataaaat gcagcttcca caaaagtttt gttatggtat tctggtctga gatgcatttt
     3661 catttttcct ttctcttttt attatcaata ttgtcatttt tccctaataa aatataccca
     3721 ggtgattata tttgttgatc taataacatg gaaggtttgt tttatatgaa ttttcaaaaa
     3781 gatgtctctt tacacttttt gttaccttgt agactcttat tgataaatgc aactacttat
     3841 taaaattgtt cactttttgt cttttgatca gatgccttta gtcaggtaag tttaagggaa
     3901 aatacgcagt ttaatgtttt ggtacatata attatgtctg ccaaagaaac ctttgattgt
     3961 atcatattgc ctatttagta gtgcataggg ttcagagtac atgataaagg atcaaaagct
     4021 ttgcattgat aagtgtctca taatatttgc tgtgattgga gaaaaaatgt agtcgtagcc
     4081 aataaatttt atcagctttt aagtttcagt attattaaac cattttcata taaa
//
