LOCUS       NM_001330618            2229 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens zinc finger TRAF-type containing 1 (ZFTRAF1),
            transcript variant 1, mRNA.
ACCESSION   NM_001330618 XM_006716562
VERSION     NM_001330618.2
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 2229)
  AUTHORS   Asif,M., Khayyat,A.I.A., Alawbathani,S., Abdullah,U., Sanner,A.,
            Georgomanolis,T., Haasters,J., Becker,K., Budde,B., Becker,C.,
            Thiele,H., Baig,S.M., Isidoro-Garcia,M., Winter,D., Pogoda,H.M.,
            Muhammad,S., Hammerschmidt,M., Kraft,F., Kurth,I., Martin,H.G.,
            Wagner,M., Nurnberg,P. and Hussain,M.S.
  TITLE     Biallelic loss-of-function variants of ZFTRAF1 cause
            neurodevelopmental disorder with microcephaly and hypotonia
  JOURNAL   Genet Med 26 (7), 101143 (2024)
   PUBMED   38641995
  REMARK    GeneRIF: Biallelic loss-of-function variants of ZFTRAF1 cause
            neurodevelopmental disorder with microcephaly and hypotonia.
REFERENCE   2  (bases 1 to 2229)
  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   3  (bases 1 to 2229)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2229)
  AUTHORS   Desaki,R., Sawada,G., Okumura,H., Ikeda,R., Tanabe,K., Komatsu,H.,
            Mimori,K., Mori,M., Kita,Y., Uchikado,Y., Arigami,T., Uenosono,Y.,
            Owaki,T., Ishigami,S. and Natsugoe,S.
  TITLE     As a Novel Prognostic Marker, Cysteine/histidine-rich 1 (CYHR1) is
            a Therapeutic Target in Patients with Esophageal Squamous Cell
            Carcinoma
  JOURNAL   Ann Surg Oncol 24 (2), 586-593 (2017)
   PUBMED   26676980
  REMARK    GeneRIF: High CYHR1 expression is associated with Esophageal
            Squamous Cell Carcinoma.
REFERENCE   5  (bases 1 to 2229)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112.. PMID: 25572966]
REFERENCE   6  (bases 1 to 2229)
  AUTHORS   Menon,R.P., Strom,M. and Hughes,R.C.
  TITLE     Interaction of a novel cysteine and histidine-rich cytoplasmic
            protein with galectin-3 in a carbohydrate-independent manner
  JOURNAL   FEBS Lett 470 (3), 227-231 (2000)
   PUBMED   10745073
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084125.9, BQ956567.1, BG751889.1 and BC004544.2.
            
            On May 20, 2020 this sequence version replaced NM_001330618.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.594290.1, BG751889.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000530374.6/ ENSP00000433769.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC084125.9         165881-165900
            21-536              BQ956567.1         1-516
            537-1167            BG751889.1         2-632
            1168-2156           AC084125.9         178109-179097
            2157-2229           BC004544.2         1564-1636
FEATURES             Location/Qualifiers
     source          1..2229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2229
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /note="zinc finger TRAF-type containing 1"
                     /db_xref="GeneID:50626"
                     /db_xref="HGNC:HGNC:17806"
                     /db_xref="MIM:616635"
     exon            1..589
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..1432
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cysteine and histidine rich protein; cysteine and
                     histidine-rich protein 1; cysteine/histidine-rich 1;
                     cysteine and histidine rich 1; Zinc finger
                     TRAF-type-containing protein 1"
                     /codon_start=1
                     /product="zinc finger TRAF-type-containing protein 1
                     isoform 1"
                     /protein_id="NP_001317547.1"
                     /db_xref="CCDS:CCDS83335.1"
                     /db_xref="GeneID:50626"
                     /db_xref="HGNC:HGNC:17806"
                     /db_xref="MIM:616635"
                     /translation="MSGAEEAGGGGPAAGPAGSVPAGVGVGVGAGPGAAAGQAAAAAL
                     GEAAGPGLPDEAGLAGARQLQLQEAAGDPDAPPKKRLRAAEAAEAAAAAAAAGSGKLE
                     ERLYSVLCCTVCLDLPKASVYQCTNGHLMCAGCFIHLLADARLKEEQATCPNCRCEIS
                     KSLCCRNLAVEKAVSELPSECGFCLRQFPRSLLERHQKEECQDRVTQCKYKRIGCPWH
                     GPFHELTVHEAACAHPTKTGSELMEILDGMDQSHRKEMQLYNSIFSLLSFEKIGYTEV
                     QFRPYRTDDFITRLYYETPRFTVLNQTWVLKARVNDSERNPNLSCKRTLSFQLLLKSK
                     VTAPLECSFLLLKGPYDDVRISPVIYHFVFTNESNETDYVPLPIIDSVECNKLLAAKN
                     INLRLFLFQIQK"
     exon            590..828
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1040
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..2229
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1857..1862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /note="hexamer: ATTAAA"
     polyA_site      1880
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /note="major polyA site"
     regulatory      2193..2198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
                     /note="hexamer: ATTAAA"
     polyA_site      2229
                     /gene="ZFTRAF1"
                     /gene_synonym="CHRP; CYHR1"
ORIGIN      
        1 aagcgcacag cgaaaacaaa gatggcggcc gtgccggggt cggtggccgc ggcggctgtg
       61 gggctacgcg cgggccgggc ccactgaggc ggcggcgcag ggagcggggc tgcgggttcg
      121 cggcggcggc ggcaggagag cggcgggagc gcgcggcgcc cctaacttct agtcggggga
      181 gcgcgccggc atccgcccgc cgggccggcc ggccgctatg tccggcgccg aggaggccgg
      241 cgggggcggc ccggccgcgg ggcccgcggg ctccgtgccg gccggggtcg gggtcggggt
      301 cggagccggg cccggggcgg ccgccgggca ggcggcggcg gcggctctgg gcgaggcggc
      361 ggggcctggg ctcccggacg aggcgggctt ggcgggcgcc cggcagctac agctgcagga
      421 ggcggccggc gaccccgacg cgccgcccaa gaagcggctg cgggcagccg aggcggccga
      481 ggcggcggcg gcggcggcgg cggccggcag cgggaaactg gaggagcggc tctactcggt
      541 gctgtgctgc accgtgtgcc tggacctgcc caaggcctcc gtgtaccagt gtactaatgg
      601 tcacttgatg tgcgctggct gttttatcca cctactagca gatgcccggc tgaaggagga
      661 gcaggccacg tgccccaatt gtcgttgtga gatcagtaag agcctctgct gccggaacct
      721 ggccgtggag aaagccgtga gcgagctgcc ttcagagtgt ggcttctgcc tgcgccagtt
      781 tccccgctcc ctcctggaga ggcaccagaa agaggaatgc caggacaggg taacccagtg
      841 caagtacaaa cgcatcggct gcccatggca cggccccttc catgagctga cggtgcacga
      901 ggctgcgtgc gcccacccga ccaagacagg cagtgagctg atggagatcc tggatgggat
      961 ggaccagagc caccgcaagg agatgcagct gtacaacagc atcttcagcc tgctcagctt
     1021 cgagaagatt ggctacacag aggtccagtt ccggccgtac cgcacagacg acttcatcac
     1081 gcgcctgtac tatgagacgc ccaggttcac agtgctgaac cagacgtggg tcctgaaggc
     1141 tcgagtcaac gactcggagc gtaaccccaa cctgtcctgc aagcgtacgc tctccttcca
     1201 gctcctcctc aagagcaagg tcacggcacc gctggagtgc tccttcctgc tgctcaaggg
     1261 cccctacgac gacgtgagga tcagccccgt catctaccac tttgtcttca ccaacgagag
     1321 caacgagacg gactacgtgc cactgcccat cattgactcc gtggagtgca acaagctgct
     1381 ggctgccaag aacatcaacc tgcggctctt cctgttccag atacagaagt agggcggggc
     1441 ctcaggatgt ccgaggagcc cacgggcggc atcccagcac cgctgccctg tccacctggc
     1501 tggcagctgc ttcacaggac tatctgatca ctttagcaaa ggaggagaac aaacgaagcc
     1561 aacacagggc aagtctgcat gcgtgcgcga cggggccccc gcctccggct cacccccccg
     1621 acccctgcct cccctccttc cgagggccgc cagaggctgg gctgacccga agaggagacg
     1681 gtgcaccagg cgccccgagg ctcagagacg gtggcagcaa ggaggccgag aggcacagcg
     1741 accctgcccc agcccttctg tgcagtcagg cggcggtgct gctccatccc tgcgggttcc
     1801 ggcggggcgc gggggccttg ctgacatcag acgggatatc cgaatatctg atagcaatta
     1861 aaaggcagcc ttgtttcgta ctttctgttt tgttcgaggg gaaggcatgg ctgtgaatgg
     1921 acagcgtggg ggctttggtt tggcctgggg gtcagagcct gccccgcccc catctgtgtg
     1981 cccgcacacg tcccccgagg aaagactcag agacactgcc tccccctaca ctctgtcatg
     2041 gggtcttgag actgaggctt gggcaggaag atccaggtag ggtcggggct gccctggcca
     2101 accggccgct cccagggaga caggactcag ccaccagggc tcagcaggca ttttccgaaa
     2161 gcagggtgaa attgtctctt cccaggaaaa agattaaact ccttgcaggc tcttggataa
     2221 gttacacaa
//
