LOCUS       NM_001105564            2971 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1),
            transcript variant 1, mRNA.
ACCESSION   NM_001105564
VERSION     NM_001105564.2
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 2971)
  AUTHORS   Xu,X., Qiu,L., Zhang,M. and Wu,G.
  TITLE     Segregation of nascent GPCRs in the ER-to-Golgi transport by CCHCR1
            via direct interaction
  JOURNAL   J Cell Sci 137 (3) (2024)
   PUBMED   38230433
  REMARK    GeneRIF: Segregation of nascent GPCRs in the ER-to-Golgi transport
            by CCHCR1 via direct interaction.
REFERENCE   2  (bases 1 to 2971)
  CONSRTM   COVID-19 Host Genetics Initiative
  TITLE     A first update on mapping the human genetic architecture of
            COVID-19
  JOURNAL   Nature 608 (7921), E1-E10 (2022)
   PUBMED   35922517
REFERENCE   3  (bases 1 to 2971)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2971)
  AUTHORS   Pairo-Castineira,E., Clohisey,S., Klaric,L., Bretherick,A.D.,
            Rawlik,K., Pasko,D., Walker,S., Parkinson,N., Fourman,M.H.,
            Russell,C.D., Furniss,J., Richmond,A., Gountouna,E., Wrobel,N.,
            Harrison,D., Wang,B., Wu,Y., Meynert,A., Griffiths,F.,
            Oosthuyzen,W., Kousathanas,A., Moutsianas,L., Yang,Z., Zhai,R.,
            Zheng,C., Grimes,G., Beale,R., Millar,J., Shih,B., Keating,S.,
            Zechner,M., Haley,C., Porteous,D.J., Hayward,C., Yang,J.,
            Knight,J., Summers,C., Shankar-Hari,M., Klenerman,P., Turtle,L.,
            Ho,A., Moore,S.C., Hinds,C., Horby,P., Nichol,A., Maslove,D.,
            Ling,L., McAuley,D., Montgomery,H., Walsh,T., Pereira,A.C.,
            Renieri,A., Shen,X., Ponting,C.P., Fawkes,A., Tenesa,A.,
            Caulfield,M., Scott,R., Rowan,K., Murphy,L., Openshaw,P.J.M.,
            Semple,M.G., Law,A., Vitart,V., Wilson,J.F. and Baillie,J.K.
  CONSRTM   GenOMICC Investigators; ISARIC4C Investigators; COVID-19 Human
            Genetics Initiative; 23andMe Investigators; BRACOVID Investigators;
            Gen-COVID Investigators
  TITLE     Genetic mechanisms of critical illness in COVID-19
  JOURNAL   Nature 591 (7848), 92-98 (2021)
   PUBMED   33307546
REFERENCE   5  (bases 1 to 2971)
  AUTHORS   Pisani,C., Onori,A., Gabanella,F., Di Certo,M.G., Passananti,C. and
            Corbi,N.
  TITLE     Identification of protein/mRNA network involving the PSORS1 locus
            gene CCHCR1 and the PSORS4 locus gene HAX1
  JOURNAL   Exp Cell Res 399 (2), 112471 (2021)
   PUBMED   33417922
  REMARK    GeneRIF: Identification of protein/mRNA network involving the
            PSORS1 locus gene CCHCR1 and the PSORS4 locus gene HAX1.
REFERENCE   6  (bases 1 to 2971)
  AUTHORS   Xu,Y.C., Wu,R.F., Gu,Y., Yang,Y.S., Yang,M.C., Nwariaku,F.E. and
            Terada,L.S.
  TITLE     Involvement of TRAF4 in oxidative activation of c-Jun N-terminal
            kinase
  JOURNAL   J Biol Chem 277 (31), 28051-28057 (2002)
   PUBMED   12023963
REFERENCE   7  (bases 1 to 2971)
  AUTHORS   Asumalahti,K., Veal,C., Laitinen,T., Suomela,S., Allen,M.,
            Elomaa,O., Moser,M., de Cid,R., Ripatti,S., Vorechovsky,I.,
            Marcusson,J.A., Nakagawa,H., Lazaro,C., Estivill,X., Capon,F.,
            Novelli,G., Saarialho-Kere,U., Barker,J., Trembath,R. and Kere,J.
  CONSRTM   Psoriasis Consortium
  TITLE     Coding haplotype analysis supports HCR as the putative
            susceptibility gene for psoriasis at the MHC PSORS1 locus
  JOURNAL   Hum Mol Genet 11 (5), 589-597 (2002)
   PUBMED   11875053
REFERENCE   8  (bases 1 to 2971)
  AUTHORS   O'Brien,K.P., Holm,S.J., Nilsson,S., Carlen,L., Rosenmuller,T.,
            Enerback,C., Inerot,A. and Stahle-Backdahl,M.
  TITLE     The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility
            gene
  JOURNAL   J Invest Dermatol 116 (5), 750-754 (2001)
   PUBMED   11348465
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2971)
  AUTHORS   Asumalahti,K., Laitinen,T., Itkonen-Vatjus,R., Lokki,M.L.,
            Suomela,S., Snellman,E., Saarialho-Kere,U. and Kere,J.
  TITLE     A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly
            polymorphic with a disease-associated susceptibility allele
  JOURNAL   Hum Mol Genet 9 (10), 1533-1542 (2000)
   PUBMED   10888604
  REMARK    Erratum:[Hum Mol Genet 2001 Feb 1;10(3):301]
REFERENCE   10 (bases 1 to 2971)
  AUTHORS   Oka,A., Tamiya,G., Tomizawa,M., Ota,M., Katsuyama,Y., Makino,S.,
            Shiina,T., Yoshitome,M., Iizuka,M., Sasao,Y., Iwashita,K.,
            Kawakubo,Y., Sugai,J., Ozawa,A., Ohkido,M., Kimura,M., Bahram,S.
            and Inoko,H.
  TITLE     Association analysis using refined microsatellite markers localizes
            a susceptibility locus for psoriasis vulgaris within a 111 kb
            segment telomeric to the HLA-C gene
  JOURNAL   Hum Mol Genet 8 (12), 2165-2170 (1999)
   PUBMED   10545595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662844.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 28, 2021 this sequence version replaced NM_001105564.1.
            
            Summary: This gene encodes a protein with five coiled-coil
            alpha-helical rod domains that is thought to act as a regulator of
            mRNA metabolism through its interaction with mRNA-decapping protein
            4. It localizes to P-bodies, the site of mRNA metabolism, with an
            N-terminus that is required for this subcellular localization,
            suggesting it is a P-body component. Naturally occurring mutations
            in this gene are associated with psoriasis. [provided by RefSeq,
            May 2017].
            
            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 :: AB112475.1, BC110535.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000396268.8/ ENSP00000379566.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-418               AL662844.12        96873-97290         c
            419-485             AL662844.12        96511-96577         c
            486-699             AL662844.12        96219-96432         c
            700-1003            AL662844.12        93984-94287         c
            1004-1167           AL662844.12        90447-90610         c
            1168-1303           AL662844.12        90213-90348         c
            1304-1414           AL662844.12        89943-90053         c
            1415-1564           AL662844.12        89554-89703         c
            1565-1675           AL662844.12        88106-88216         c
            1676-1782           AL662844.12        87893-87999         c
            1783-1895           AL662844.12        85184-85296         c
            1896-1941           AL662844.12        84936-84981         c
            1942-2078           AL662844.12        84654-84790         c
            2079-2267           AL662844.12        84373-84561         c
            2268-2369           AL662844.12        84175-84276         c
            2370-2521           AL662844.12        82750-82901         c
            2522-2693           AL662844.12        82451-82622         c
            2694-2971           AL662844.12        81927-82204         c
FEATURES             Location/Qualifiers
     source          1..2971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2971
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /note="coiled-coil alpha-helical rod protein 1"
                     /db_xref="GeneID:54535"
                     /db_xref="HGNC:HGNC:13930"
                     /db_xref="MIM:605310"
     exon            1..418
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..2818
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /note="isoform 1 is encoded by transcript variant 1; HCR
                     (a-helix coiled-coil rod homologue); StAR-binding protein;
                     putative gene 8 protein; alpha-helical coiled-coil rod
                     protein"
                     /codon_start=1
                     /product="coiled-coil alpha-helical rod protein 1 isoform
                     1"
                     /protein_id="NP_001099034.1"
                     /db_xref="CCDS:CCDS43445.1"
                     /db_xref="GeneID:54535"
                     /db_xref="HGNC:HGNC:13930"
                     /db_xref="MIM:605310"
                     /translation="MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWR
                     WRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDGWRQNLEPSNNVEMFPPSGSTGLIPP
                     SHFQARPLSTLPRMAPTWLSDIPLVQPPGHQDVSERRLDTQRPQVTMWERDVSSDRQE
                     PGRRGRSWGLEGSQALSQQAEVIVRQLQELRRLEEEVRLLRETSLQQKMRLEAQAMEL
                     EALARAEKAGRAEAEGLRAALAGAEVVRKNLEEGSQRELEEVQRLHQEQLSSLTQAHE
                     EALSSLTSKAEGLEKSLSSLETRRAGEAKELAEAQREAELLRKQLSKTQEDLEAQVTL
                     VENLRKYVGEQVPSEVHSQTWELERQKLLETMQHLQEDRDSLHATAELLQVRVQSLTH
                     ILALQEEELTRKVQPSDSLEPEFTRKCQSLLNRWREKVFALMVQLKAQELEHSDSVKQ
                     LKGQVASLQEKVTSQSQEQAILQRSLQDKAAEVEVERMGAKGLQLELSRAQEARRRWQ
                     QQTASAEEQLRLVVNAVSSSQIWLETTMAKVEGAAAQLPSLNNRLSYAVRKVHTIRGL
                     IARKLALAQLRQESCPLPPPVTDVSLELQQLREERNRLDAELQLSARLIQQEVGRARE
                     QGEAERQQLSKVAQQLEQELQQTQESLASLGLQLEVARQGQQESTEEAASLRQELTQQ
                     QELYGQALQEKVAEVETRLREQLSDTERRLNEARREHAKAVVSLRQIQRRAAQEKERS
                     QELRRLQEEARKEEGQRLARRLQELERDKNLMLATLQQEGLLSRYKQQRLLTVLPSLL
                     DKKKSVVSSPRPPECSASAPVAAAVPTRESIKGSLSVLLDDLQDLSEAISKEEAVCQG
                     DNLDRCSSSNPQMSS"
     exon            419..485
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            486..699
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            700..1003
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1167
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1303
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1414
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1564
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1675
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1676..1782
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1783..1895
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1896..1941
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1942..2078
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            2079..2267
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2369
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            2370..2521
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            2522..2693
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     exon            2694..2971
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2950..2955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /note="hexamer: AATAAA"
     polyA_site      2971
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /note="major polyA site"
ORIGIN      
        1 ggaagatctt aaagtgccca ctatgtgtta ggactcgaga aagaggaggc gggcagcagg
       61 catggaagct aaggggatag tagagagaag ctgagagaac agccgcagga aagatttgaa
      121 taagatgtca ggacgctggc ttttctgcct ggggatctag gcggcctgga ttcccaaggt
      181 cttggggagg gtctagccct gcatgtggcc acattcagct ggggccaggc cttgggccag
      241 cactttaaca gggaaggacc caagagtcat ggcctgctgg tgtctggatg ggcttccctc
      301 aggccttgct gagccatgga gagaactctg gagatggcgc tcaagacccc tgcactgtgt
      361 acctcctttc tcacctctgg ccaggagcag cagggaccat agaaacttaa ggaggagggg
      421 gaacatagat ggctggagac agaatctaga gccttcaaat aatgtggaga tgtttccacc
      481 ttcaggttcc actgggctga ttcccccctc ccactttcaa gctcggcccc tttcaactct
      541 gccaagaatg gctcccacct ggctctcaga cattcccctg gtccaacccc caggccatca
      601 agatgtctca gagaggcggc tagacaccca gagacctcaa gtgaccatgt gggaacggga
      661 tgtttccagt gacaggcagg agccagggcg gagaggcagg tcctgggggc tggaggggtc
      721 acaggccctg agccagcagg ctgaggtgat cgttcggcag ctgcaagagc tgcggcggct
      781 ggaggaggag gtccggctcc tgcgggagac ctcgctgcag cagaagatga ggctagaggc
      841 ccaggccatg gagctagagg ctctggcacg ggcggagaag gccggccgag ctgaggctga
      901 gggcctgcgt gctgctttgg ctggggctga ggttgtccgg aagaacttgg aagaggggag
      961 ccagcgggag ctggaagagg ttcagaggct gcaccaagag cagctgtcct ctttgacaca
     1021 ggctcacgag gaggctcttt ccagtttgac cagcaaggct gagggcttgg agaagtctct
     1081 gagtagtctg gaaaccagaa gagcagggga agccaaggag ctggccgagg ctcagaggga
     1141 ggccgagctg cttcggaagc agctgagcaa gacccaggaa gacttggagg ctcaggtgac
     1201 cctggttgag aatctaagaa aatatgttgg ggaacaagtg ccttctgagg tccacagcca
     1261 gacatgggaa ctggagcgac agaagcttct ggaaaccatg cagcacttgc aggaggaccg
     1321 ggacagcctg catgccaccg cggagctgct gcaggtgcgg gtgcagagcc tcacacacat
     1381 cctcgccctg caggaggagg agctgaccag gaaggttcaa ccttcagatt ccctggagcc
     1441 tgagtttacc aggaagtgcc agtccctgct gaaccgctgg cgggagaagg tgtttgccct
     1501 catggtgcag ctaaaggccc aggagctgga acacagtgac tctgttaagc agctgaaggg
     1561 acaggtggcc tcactccagg aaaaagtgac atcccagagc caggagcagg ccatcctgca
     1621 gcgatccctg caggacaaag ccgcagaggt ggaggtggag cgtatgggtg ccaagggcct
     1681 gcagttggag ctgagccgtg ctcaggaggc caggcgtcgg tggcagcagc agacagcctc
     1741 agccgaggag cagctgaggc ttgtggtcaa tgctgtcagc agctctcaga tctggctcga
     1801 gaccaccatg gctaaggtgg aaggggctgc cgcccagctt cccagcctca acaaccgact
     1861 cagctatgct gtccgcaagg tccacaccat tcggggcctg attgctcgaa agcttgccct
     1921 tgctcagctg cgccaggaga gctgtcccct accaccaccg gtcacagacg tgagccttga
     1981 gttgcagcag ttgcgggaag aacggaaccg cctggatgca gaactgcagc tgagtgcccg
     2041 cctcatccag caggaggtgg gccgggctcg ggagcaaggg gaggcagagc ggcagcagct
     2101 gagcaaggtg gcccagcagc tggagcagga gctgcagcag acccaggagt ccctggctag
     2161 cttggggctg cagctggagg tagcacgcca gggccagcag gagagcacag aggaggctgc
     2221 cagtctgcgg caggagctga cccagcagca ggaactctac gggcaagccc tgcaagaaaa
     2281 ggtggctgaa gtggaaactc ggctgcggga gcaactctca gacacagaga ggaggctgaa
     2341 cgaggctcgg agggagcatg ccaaggccgt ggtctcctta cgccagattc agcgcagagc
     2401 cgcccaggaa aaggagcgga gccaggaact caggcgtctg caggaggagg cccggaagga
     2461 ggaggggcag cgactggccc ggcgcttgca ggagctagag agggataaga acctcatgct
     2521 ggccaccttg cagcaggaag gtctcctctc ccgttacaag cagcagcgac tgttgacagt
     2581 tcttccttcc ctactggata agaagaaatc tgtggtgtcc agccccaggc ctccagagtg
     2641 ttcagcatct gcacctgtag cagcagcagt gcccaccagg gagtccataa aagggtccct
     2701 ctctgtcctg ctcgatgacc tgcaggacct gagtgaagcc atttccaaag aggaagctgt
     2761 ttgtcaagga gacaaccttg acagatgctc cagctccaat ccccagatga gcagctaagc
     2821 agctgacagt tggagggaaa gccagcctgg gggctgggag gatcctggag aagtgggtgg
     2881 ggacagacca gcccttcccc atcctggggt tgccctgggg gataccagct gagtctgaat
     2941 tctgctctaa ataaagacga ctacagaagg a
//
