LOCUS       NM_020925               5933 bp    mRNA    linear   PRI 24-APR-2024
DEFINITION  Homo sapiens cache domain containing 1 (CACHD1), transcript variant
            1, mRNA.
ACCESSION   NM_020925
VERSION     NM_020925.4
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 5933)
  AUTHORS   Scala,M., Khan,K., Beneteau,C., Fox,R.G., von Hardenberg,S.,
            Khan,A., Joubert,M., Fievet,L., Musquer,M., Le Vaillant,C.,
            Holsclaw,J.K., Lim,D., Berking,A.C., Accogli,A., Giacomini,T.,
            Nobili,L., Striano,P., Zara,F., Torella,A., Nigro,V., Cogne,B.,
            Salick,M.R., Kaykas,A., Eggan,K., Capra,V., Bezieau,S., Davis,E.E.
            and Wells,M.F.
  TITLE     Biallelic loss-of-function variants in CACHD1 cause a novel
            neurodevelopmental syndrome with facial dysmorphism and multisystem
            congenital abnormalities
  JOURNAL   Genet Med 26 (4), 101057 (2024)
   PUBMED   38158856
  REMARK    GeneRIF: Biallelic loss-of-function variants in CACHD1 cause a
            novel neurodevelopmental syndrome with facial dysmorphism and
            multisystem congenital abnormalities.
REFERENCE   2  (bases 1 to 5933)
  AUTHORS   Stephens,G.J. and Cottrell,G.S.
  TITLE     CACHD1: A new activity-modifying protein for voltage-gated calcium
            channels
  JOURNAL   Channels (Austin) 13 (1), 120-123 (2019)
   PUBMED   30983497
  REMARK    GeneRIF: CACHD1: A new activity-modifying protein for voltage-gated
            calcium channels
REFERENCE   3  (bases 1 to 5933)
  AUTHORS   Cottrell,G.S., Soubrane,C.H., Hounshell,J.A., Lin,H., Owenson,V.,
            Rigby,M., Cox,P.J., Barker,B.S., Ottolini,M., Ince,S., Bauer,C.C.,
            Perez-Reyes,E., Patel,M.K., Stevens,E.B. and Stephens,G.J.
  TITLE     CACHD1 is an alpha2delta-Like Protein That Modulates CaV3
            Voltage-Gated Calcium Channel Activity
  JOURNAL   J Neurosci 38 (43), 9186-9201 (2018)
   PUBMED   30181139
  REMARK    GeneRIF: CACHD1 increases the presence of CaV3.1 at the cell
            surface and causes an increase in channel open probability.
REFERENCE   4  (bases 1 to 5933)
  AUTHORS   Nakayama,M., Kikuno,R. and Ohara,O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355515.12, AL590405.19 and AC099678.2.
            
            On May 17, 2019 this sequence version replaced NM_020925.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.156888.1,
                                           SRR1660803.223274.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651257.2/ ENSP00000498498.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-814               AL355515.12        31263-32076
            815-877             AL590405.19        8520-8582
            878-1026            AL590405.19        40082-40230
            1027-1133           AL590405.19        60732-60838
            1134-1260           AL590405.19        87281-87407
            1261-1405           AL590405.19        90525-90669
            1406-1622           AL590405.19        91970-92186
            1623-1772           AL590405.19        99746-99895
            1773-2006           AL590405.19        105727-105960
            2007-2156           AL590405.19        110087-110236
            2157-2280           AL590405.19        111684-111807
            2281-2398           AL590405.19        112612-112729
            2399-2567           AL590405.19        116631-116799
            2568-2710           AL590405.19        121621-121763
            2711-2892           AL590405.19        122424-122605
            2893-3003           AL590405.19        123983-124093
            3004-3126           AL590405.19        129490-129612
            3127-3226           AL590405.19        131084-131183
            3227-3343           AL590405.19        131274-131390
            3344-3504           AL590405.19        133327-133487
            3505-3591           AC099678.2         2027-2113
            3592-3708           AC099678.2         3025-3141
            3709-3860           AC099678.2         4289-4440
            3861-4022           AC099678.2         5725-5886
            4023-4100           AC099678.2         7388-7465
            4101-4202           AC099678.2         8135-8236
            4203-5933           AC099678.2         17453-19183
FEATURES             Location/Qualifiers
     source          1..5933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..5933
                     /gene="CACHD1"
                     /note="cache domain containing 1"
                     /db_xref="GeneID:57685"
                     /db_xref="HGNC:HGNC:29314"
                     /db_xref="MIM:620144"
     exon            1..814
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             617..4441
                     /gene="CACHD1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; von Willebrand factor type A and cache domain
                     containing 1; VWFA and cache domain-containing protein 1"
                     /codon_start=1
                     /product="VWFA and cache domain-containing protein 1
                     isoform 1 precursor"
                     /protein_id="NP_065976.3"
                     /db_xref="CCDS:CCDS628.3"
                     /db_xref="GeneID:57685"
                     /db_xref="HGNC:HGNC:29314"
                     /db_xref="MIM:620144"
                     /translation="MARQPEEEETAVARARRPPLWLLCLVACWLLGAGAEADFSILDE
                     AQVLASQMRRLAAEELGVVTMQRIFNSFVYTEKISNGESEVQQLAKKIREKFNRYLDV
                     VNRNKQVVEASYTAHLTSPLTAIQDCCTIPPSMMEFDGNFNTNVSRTISCDRLSTTVN
                     SRAFNPGRDLNSVLADNLKSNPGIKWQYFSSEEGIFTVFPAHKFRCKGSYEHRSRPIY
                     VSTVRPQSKHIVVILDHGASVTDTQLQIAKDAAQVILSAIDEHDKISVLTVADTVRTC
                     SLDQCYKTFLSPATSETKRKMSTFVSSVKSSDSPTQHAVGFQKAFQLIRSTNNNTKFQ
                     ANTDMVIIYLSAGITSKDSSEEDKKATLQVINEENSFLNNSVMILTYALMNDGVTGLK
                     ELAFLRDLAEQNSGKYGVPDRMALPVIKGSMMVLNQLSNLETTVGRFYTNLPNRMIDE
                     AVFSLPFSDEMGDGLIMTVSKPCYFGNLLLGIVGVDVNLAYILEDVTYYQDSLASYTF
                     LIDDKGYTLMHPSLTRPYLLSEPPLHTDIIHYENIPKFELVRQNILSLPLGSQIIAVP
                     VNSSLSWHINKLRETGKEAYNVSYAWKMVQDTSFILCIVVIQPEIPVKQLKNLNTVPS
                     SKLLYHRLDLLGQPSACLHFKQLATLESPTIMLSAGSFSSPYEHLSQPETKRMVEHYT
                     AYLSDNTRLIANPGLKFSVRNEVMATSHVTDEWMTQMEMSSLNTYIVRRYIATPNGVL
                     RIYPGSLMDKAFDPTRRQWYLHAVANPGLISLTGPYLDVGGAGYVVTISHTIHSSSTQ
                     LSSGHTVAVMGIDFTLRYFYKVLMDLLPVCNQDGGNKIRCFIMEDRGYLVAHPTLIDP
                     KGHAPVEQQHITHKEPLVANDILNHPNFVKKNLCNSFSDRTVQRFYKFNTSLAGDLTN
                     LVHGSHCSKYRLARIPGTNAFVGIVNETCDSLAFCACSMVDRLCLNCHRMEQNECECP
                     CECPLEVNECTGNLTNAENRNPSCEVHQEPVTYTAIDPGLQDALHQCVNSRCSQRLES
                     GDCFGVLDCEWCMVDSDGKTHLDKPYCAPQKECFGGIVGAKSPYVDDMGAIGDEVITL
                     NMIKSAPVGPVAGGIMGCIMVLVLAVYAYRHQIHRRSHQHMSPLAAQEMSVRMSNLEN
                     DRDERDDDSHEDRGIISNTRFIAAVIERHAHSPERRRRYWGRSGTESDHGYSTMSPQE
                     DSENPPCNNDPLSAGVDVGNHDEDLDLDTPPQTAALLSHKFHHYRSHHPTLHHSHHLQ
                     AAVTVHTVDAEC"
     exon            815..877
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1026
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1133
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1260
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1405
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1622
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..1772
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..2006
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2007..2156
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2157..2280
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2281..2398
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2399..2567
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2568..2710
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2711..2892
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2893..3003
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3004..3126
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3127..3226
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3227..3343
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3344..3504
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3505..3591
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3592..3708
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3709..3860
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3861..4022
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4023..4100
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4101..4202
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4203..5933
                     /gene="CACHD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5914..5919
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACHD1"
                     /note="hexamer: AATAAA"
     polyA_site      5933
                     /gene="CACHD1"
                     /note="major polyA site"
ORIGIN      
        1 agccgggaag tgcacagagc cggagcgcag cgtggtggca ccagacgcct ccctttcccc
       61 accgcttgct ttctttcttt cagttgtgtg ggtttgtgaa gcctcccctt tccctcctcg
      121 ctcgggtggc tgccccagtc tcgcagcccg gccgccgctc ctcttccccg ggggccgccg
      181 tcagtcctcg ccgccgcctg ctcgctgcgc tgggactcgc aggaagcgag agccgcgcgg
      241 ctcggctcgg gctccgactc cgactccgat tccgactgtc agccccgggg cccgcgcacc
      301 ccggcctgcg ggcgcccctg ctctcggaga cgccctctgc gccgcggggc ccgtgtgggc
      361 gccgggctcc ggggaccgct cgggcggccg cctcctaccc ccaccgccgc ggagccccgc
      421 gatggtggcc gcccgcgctc ccgcgctgta gccgggcgcc ccctaagttt gggagccttc
      481 gccaccgcgg cgcggagcag agcctgcaac agaggaagaa acttttgcgg ggtgcgccgc
      541 gcttttgcgg ggggcacctc ccgcggcccg cttccccgcg cccggagccc gtcggcgggg
      601 agtgggggga ggcagcatgg cccgccagcc ggaggaagag gagacggccg tggcccgggc
      661 gcggcggccg cccctctggc tgctctgcct ggtcgcgtgc tggctcctgg gcgccggggc
      721 cgaagccgac ttctccatcc tggacgaggc gcaagtgctg gcgagccaga tgcggaggct
      781 ggcggccgag gagctggggg tcgtcaccat gcagcggata ttcaactcct ttgtttacac
      841 tgagaaaatc tcaaatggag aaagtgaagt acagcagcta gccaaaaaaa tccgagagaa
      901 gttcaaccgt tacttggatg tggtcaatcg gaacaagcaa gttgtagaag catcctatac
      961 ggctcaccta acctctcccc taactgcaat tcaagactgc tgtactatcc caccttccat
     1021 gatggaattc gatgggaact ttaataccaa tgtgtctaga acaattagtt gtgatcgact
     1081 ttctactact gttaatagcc gggccttcaa tccaggacga gacttaaatt cagttcttgc
     1141 agacaacctg aaatccaacc ctggaattaa gtggcaatat ttcagttcag aagaaggaat
     1201 tttcactgtt ttcccagcac acaagttccg gtgtaagggc agctacgaac accgcagtag
     1261 acccatctac gtctctacag tccggccgca gtcaaagcac atagtagtga ttctggacca
     1321 cggggcttca gtcacagaca ctcagcttca gattgccaag gacgctgctc aggtcatcct
     1381 cagcgccatc gatgaacatg acaagatttc tgtgttaact gtggcagata ccgtccggac
     1441 ttgctcacta gaccagtgct ataagacctt cttgtctcca gccaccagtg agacaaaaag
     1501 gaaaatgtcc acctttgtta gcagcgtgaa gtcttcagac agtcctaccc agcacgcagt
     1561 gggattccaa aaggcatttc agctgattcg aagtacaaac aataacacaa agttccaagc
     1621 aaatacagac atggtcatca tttacctgtc agctggcatt acatcaaagg actcttcgga
     1681 agaagataaa aaagcgactc tccaagtcat caatgaagaa aatagctttc taaacaactc
     1741 tgtaatgatt ctcacctatg ccctcatgaa cgatggggtg actggtttga aagagctggc
     1801 ttttctgagg gatctagctg aacagaattc agggaagtac ggtgtgccag accggatggc
     1861 cttgcctgtg attaagggca gcatgatggt gctgaatcag ttgagcaacc tggagaccac
     1921 agtgggcagg ttctacacaa accttcccaa ccggatgatt gatgaagccg tcttcagcct
     1981 gcccttctct gatgagatgg gagatggttt gataatgact gtgagtaaac cctgttattt
     2041 tggaaaccta cttctgggaa ttgtaggtgt ggacgtgaat ctggcttaca ttcttgaaga
     2101 cgtgacgtat taccaagact ctttggcttc ctatactttt ctcatagacg acaaaggata
     2161 tacacttatg cacccatctc ttaccaggcc atatttattg tcagagcccc cacttcatac
     2221 tgacatcata cattatgaaa atattccaaa atttgaatta gttcggcaaa atatcctaag
     2281 cctccctctg ggcagccaga ttatcgcagt ccctgtgaac tcatccctgt cttggcacat
     2341 aaacaagctg agagaaactg gaaaggaagc ctacaatgtt agctatgcct ggaagatggt
     2401 acaagacact tcctttattc tgtgtattgt ggtgatacaa ccagaaatac ctgtgaaaca
     2461 actgaagaac ctcaacactg ttcccagcag caagctgctg taccaccggc tggatctcct
     2521 tggccagccc agtgcttgcc tccacttcaa acagctggca accctagaaa gtcccaccat
     2581 catgctgtct gctggcagct tttcctcccc ctatgagcac ctcagccagc cagagacaaa
     2641 gcgcatggta gagcactaca ccgcctatct cagcgacaac acccgcctca ttgctaaccc
     2701 gggcctcaaa ttctctgtca gaaatgaagt aatggctacc agccacgtca cagatgaatg
     2761 gatgacacaa atggaaatga gtagcctgaa cacttacatt gtccgccgtt acatagcaac
     2821 acccaatggc gtcctcagaa tttatcctgg ttccctcatg gacaaagcat ttgatcccac
     2881 taggagacaa tggtatctcc atgcagtagc taatccaggg ttgatttctt tgactggtcc
     2941 ttacttagat gttggaggag ctggttatgt tgtgacaatc agtcacacaa ttcattcatc
     3001 cagtacacag ctgtcttctg ggcacactgt ggctgtgatg ggcattgact tcacactcag
     3061 atacttctac aaagttctga tggacctatt acctgtctgt aaccaagatg gtggcaacaa
     3121 aataaggtgc ttcataatgg aggacagggg ttatctggtg gcgcacccga ctctcatcga
     3181 ccccaaagga catgcacctg tggagcagca gcacatcacc cacaaggagc ccctggtagc
     3241 aaatgatatc ctcaaccacc ccaactttgt aaagaaaaac ctgtgcaaca gcttcagtga
     3301 cagaacggtc cagaggtttt ataaattcaa caccagcctt gcgggggatt tgacgaacct
     3361 tgtgcatggc agccactgtt ccaaatacag attagcaagg atcccaggaa ccaacgcgtt
     3421 tgttggcatt gtcaacgaaa cctgcgactc tcttgccttc tgtgcctgca gcatggtgga
     3481 ccgactctgt ctcaactgtc accgaatgga acaaaatgaa tgtgaatgtc cttgtgagtg
     3541 ccctctagag gtcaatgagt gcactggcaa cctcaccaat gcagagaacc gaaaccccag
     3601 ctgcgaggtc caccaggagc cggtgacata cacagctatt gaccctggcc tgcaagatgc
     3661 tcttcaccag tgtgtcaaca gcaggtgcag tcagaggctg gaaagtgggg actgttttgg
     3721 ggtgctggat tgtgaatggt gcatggtgga cagtgatgga aagactcacc tggacaaacc
     3781 ctactgtgcc ccccagaaag aatgcttcgg ggggattgtg ggagccaaaa gtccctacgt
     3841 tgatgacatg ggagcaatag gtgatgaggt gatcacatta aacatgatta aaagcgcccc
     3901 tgtgggtcct gtggctggag ggatcatggg atgcatcatg gtcttggtcc tggcggtgta
     3961 tgcctaccgc caccagattc atcgccggag ccatcagcat atgtctcctc ttgctgccca
     4021 agaaatgtca gtgcgtatgt ccaacctgga gaatgacaga gatgaaaggg acgacgacag
     4081 ccacgaagac agaggcatca tcagcaacac tcggtttata gctgcggtca tcgaacgaca
     4141 tgcacacagt ccagaaagaa ggcgccgcta ctggggtcga tcaggaacag aaagtgatca
     4201 tggttacagc accatgagcc cacaggagga cagtgaaaat cctccatgca acaatgaccc
     4261 cttgtcagcc ggggtcgatg tgggaaacca tgatgaggac ttagacctgg ataccccccc
     4321 tcagactgct gccctactaa gtcacaagtt ccaccactac cggtcacacc accctacact
     4381 tcatcatagc caccacttac aggcggccgt cacggtacac actgtcgatg cagaatgcta
     4441 acaatctcct cacctccacg ccaagatgag atctgggagc tacagaatgt tctggaaaga
     4501 aaaagaaccg gcttaaaacc cacagcaaga gacctccctt gtgtttgtgc tttgtgcaga
     4561 gttgtttgag tcatttcctg cctgtcgaca tggttaaaaa cgagagaaac aacaacacag
     4621 tcacatttgt gaagatgtga ggctggttct gaaatggagg ggaaataagc ctgatgaaca
     4681 gacctgccat aacactaatg gaaggtaaca gaaggcgaac ctccaaacac agagacggaa
     4741 cctgcaagtg aagctgagcc agaggaatgt tccaaagagc cagaagcatt cagctctcct
     4801 taactggaag agagaaaaat ctgctcaccc agagactgga atgtggcaca tgcagataca
     4861 aatgtgtgca ttgaagattt cgctttgttt cttagcggta cctggatacc acagttgctg
     4921 tatggaactc atgttatgct ctaaacgatg catctcagaa tttctaagta aaggattatt
     4981 tttctactat ttattgaact ttcaaacatt ctcaaacttt ggggaaaagg aaaggaaaca
     5041 caggagaagt tttcagcagt tgccccgagc tgttttgtgt gtaatgaagt ggttctttga
     5101 ttaaggagct ctatttctta tttaactgat atcccactgc cccactccac aaaataggaa
     5161 aatgaagaaa tctttctctc tgacttgttt acatcatttc acggaaacac atctttgttt
     5221 gtaatgcagt attctttctc tgtgtttgac agagatgggg aggggcagag gaatttaaga
     5281 ggttttaaaa gaaatgttat gtttcttatg acttgtttcc actcctcgta caatgctatt
     5341 cttaggtttc tacgaaacct aatgttagaa ccgcatcctt tcagctaagg gagggttgga
     5401 tttattttcc ttgttttaga gactacaaat ttttaaatat cccattttga ctgagaatat
     5461 tgacatataa gggaagaagt tttctaaatt gtgaaagtct ggttcttaat taaagaattt
     5521 tttttttaat atcacggtta aaagctgctg ccagttagcc aagacattat ccaccaaatt
     5581 gctttgtgat ttatacaggg attaatcaaa tctggctact ataacatggg gcattgtaac
     5641 tttaaagtag tgttttaatt acagtgatgt attttagact cacattttgt gattcaaata
     5701 tgttataaag gcattcttgc accatggtaa agaatgtgtg tggtaaatct ccgtttatat
     5761 gtagttggaa aaaattcact gaataatgtt ttaatgatag ggtattatga tacaatgtaa
     5821 aaaacaattg gttcttcagc agtacagaaa gtaaactata tatgtgctat caggaaaccc
     5881 cttcatactg tgtataaaat tgcaatctag tgaaataaac cgtatgcaat gga
//
