LOCUS       NM_152394               2021 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens glutamate rich 6 (ERICH6), transcript variant 1, mRNA.
ACCESSION   NM_152394
VERSION     NM_152394.5
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 2021)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   2  (bases 1 to 2021)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036239.1, DB058602.1 and BC029577.1.
            
            On Nov 23, 2018 this sequence version replaced NM_152394.4.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036239.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295910.11/ ENSP00000295910.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-288               BC036239.1         36-323
            289-289             DB058602.1         226-226
            290-2018            BC036239.1         325-2053
            2019-2021           BC029577.1         1750-1752
FEATURES             Location/Qualifiers
     source          1..2021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1"
     gene            1..2021
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /note="glutamate rich 6"
                     /db_xref="GeneID:131831"
                     /db_xref="HGNC:HGNC:28602"
     exon            1..425
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..2014
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM194A; family with sequence similarity 194,
                     member A; glutamate-rich 6A; glutamate-rich protein 6"
                     /codon_start=1
                     /product="glutamate-rich protein 6 isoform 1"
                     /protein_id="NP_689607.2"
                     /db_xref="CCDS:CCDS3151.2"
                     /db_xref="GeneID:131831"
                     /db_xref="HGNC:HGNC:28602"
                     /translation="MAHLRSPSGFGDPGKKDQKESEEELEEEEEEEEVEEEEEEVEEE
                     EEEVEEEEEEVVEEELVGEEQELEAPETFSEEYLWKVTDIGDYDDDFPDVRPRLASIV
                     SPSLTSTFVPSQSATSTETPSASPPSSTSSHKSFPKIFQTFRKDMSEMSIDRNIHRNL
                     SPGIPVSVQTEESWLQDLSDKVQSRKKASKEKAEPECLASKLREKWVINPEESKLNIL
                     YELEFKEDFITLFEPSLRTLPSIGPPSILAYKEESSNLGINFKDEEEETSPKCEFCGS
                     DLRAFFSNVDVSSEPKGHASCCIAFQNLIDYIYEEQIKTKPPKAELIAIDPHAAHGSE
                     VDRLKAKEKALQRKQEQRMARHFAIISREQTHFSEDDSKRLKTISYQLSVDIPEKQII
                     DDIVFDFQLRNSNMSIICCDSRIACGKVVRNELLEKHYKHGSKFLTSFPDGTTQIFYP
                     SGNLAIIRVPNKVNGFTCIVQEDMPTNPAILAVLDSSGRSSCYHPNGNVWVYINILGG
                     QYSDQAGNRIRAWNWSNSITSSPFVSFKPVFLALNRYIGVRILEQDKISITFLAMGQQ
                     ARISVGTKVKLPNPEEIPILRYVSGDDLLLLASLIKIRRLFHKLEGCVNFPSSQVWEK
                     LKQPSYLSSLSLKLIALCHSSGIKQDIMKTIRNIINEEI"
     exon            426..483
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            484..575
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            576..632
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            633..688
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            689..805
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            806..904
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1062
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1133
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1279
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1365
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1521
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1750
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..2021
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2000..2005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /note="hexamer: AATGAA"
     regulatory      2004..2009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /note="hexamer: AAGAAA"
     polyA_site      2018
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
     polyA_site      2021
                     /gene="ERICH6"
                     /gene_synonym="C3orf44; ERICH6A; FAM194A"
                     /note="major polyA site"
ORIGIN      
        1 gtaatcccgc ctcccgccag ccatggccca cttgcgctcg cctagcggct tcggagaccc
       61 ggggaagaag gaccagaagg agtcagagga ggagttagag gaggaggagg aggaggaaga
      121 ggtggaggag gaggaggaag aggtggagga ggaggaggaa gaggtggagg aggaggagga
      181 ggaggtggtg gaggaggagt tggtggggga agagcaggag ttggaggccc ctgagacgtt
      241 cagcgaagag tacctctgga aggtcacgga catcggtgac tacgacgacg acttcccaga
      301 cgtgcgcccc cgcttagcca gcatcgtcag ccctagcctg acctctacgt tcgtgcccag
      361 ccagagcgcg accagcactg aaacgccgag cgcaagccca ccctccagca cctcctcgca
      421 taaaagtttc cctaaaatat ttcagacatt taggaaagac atgtctgaaa tgagtataga
      481 tagaaatatt catcgcaatt tgtctccagg aattccagta tcagtacaaa cagaagaaag
      541 ttggctccaa gatttgtctg ataaagtgca atcgaggaag aaagcctcta aagagaaagc
      601 tgaacctgaa tgtctggcat ctaagttaag agaaaaatgg gtaattaatc cagaagagtc
      661 gaaactaaat attttatatg agctggagtt taaggaagac ttcataacac tgttcgagcc
      721 ttctctaaga acgttaccca gcatcggacc accatccatt ctggcataca aagaagagag
      781 ctccaattta ggcattaact tcaaggatga agaggaggag acatcaccca aatgtgaatt
      841 ttgtggcagc gatctaagag catttttttc taatgtggat gtttcctctg aaccaaaagg
      901 gcatgcctcc tgttgtattg ctttccaaaa tctgattgac tatatctatg aggagcaaat
      961 aaaaaccaaa ccccctaaag ctgaattaat tgctattgac cctcatgcag cccatggtag
     1021 tgaggtcgac agactcaagg caaaagaaaa agccctgcaa aggaaacagg agcaacgaat
     1081 ggccagacat tttgcaataa tatcaaggga acagactcat ttctctgaag atgattcaaa
     1141 gcgcttaaaa acaatttctt atcaactttc tgtggatatt ccagaaaaac agataattga
     1201 tgacattgta tttgattttc aactaagaaa cagtaacatg tctatcattt gttgtgattc
     1261 tcggatagca tgtggaaagg ttgtcaggaa tgagctctta gagaagcact acaaacatgg
     1321 gagcaagttt ctgacttcat ttccagatgg gacaacacaa atattctatc catctggaaa
     1381 cctagccatc attcgagtgc ccaacaaggt aaatggtttt acttgtatag tccaagaaga
     1441 tatgcccact aaccctgcta tcctagcagt gctggattcc tctggcagaa gttcctgcta
     1501 tcatcccaat ggaaatgtct gggtatacat caatatcttg ggaggtcaat attcagatca
     1561 agccggcaac agaataaggg cttggaattg gtcaaattcc atcacttcct caccctttgt
     1621 ttcatttaaa cctgtctttc tggctttgaa ccgttatatt ggagtccgca tcttagaaca
     1681 agacaagatt tctataactt ttctagcaat gggccaacag gcaagaatca gtgttggaac
     1741 caaagtgaag ctaccaaacc ctgaggagat tccaatcctc cgatacgtaa gtggagatga
     1801 ccttcttctg ctggccagtt taataaagat ccgtcgcctg tttcataaac ttgaaggatg
     1861 tgtgaatttt ccctcaagcc aggtttggga aaaattaaag caaccttcct acctttcttc
     1921 actttctcta aaactaattg ccctttgtca cagttctggt ataaagcaag atataatgaa
     1981 gacaataaga aatataataa atgaagaaat ttaactaaga a
//
