LOCUS       NM_174924               2148 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens protein disulfide isomerase like, testis expressed
            (PDILT), mRNA.
ACCESSION   NM_174924
VERSION     NM_174924.2
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 2148)
  AUTHORS   Li,H., Yang,K., Wang,W., Niu,Y., Li,J., Dong,Y., Liu,Y., Wang,C.C.,
            Wang,L. and Liang,H.
  TITLE     Crystal and solution structures of human protein-disulfide
            isomerase-like protein of the testis (PDILT) provide insight into
            its chaperone activity
  JOURNAL   J Biol Chem 293 (4), 1192-1202 (2018)
   PUBMED   29203529
  REMARK    GeneRIF: indings have identified the critical regions and
            conformational changes of PDILT that enable and control its
            activity. These results advance our understanding of the structural
            mechanisms involved in the chaperone activity of PDILT.
REFERENCE   2  (bases 1 to 2148)
  AUTHORS   Olden,M., Corre,T., Hayward,C., Toniolo,D., Ulivi,S., Gasparini,P.,
            Pistis,G., Hwang,S.J., Bergmann,S., Campbell,H., Cocca,M.,
            Gandin,I., Girotto,G., Glaudemans,B., Hastie,N.D., Loffing,J.,
            Polasek,O., Rampoldi,L., Rudan,I., Sala,C., Traglia,M.,
            Vollenweider,P., Vuckovic,D., Youhanna,S., Weber,J., Wright,A.F.,
            Kutalik,Z., Bochud,M., Fox,C.S. and Devuyst,O.
  TITLE     Common variants in UMOD associate with urinary uromodulin levels: a
            meta-analysis
  JOURNAL   J Am Soc Nephrol 25 (8), 1869-1882 (2014)
   PUBMED   24578125
REFERENCE   3  (bases 1 to 2148)
  AUTHORS   Bastos-Aristizabal,S., Kozlov,G. and Gehring,K.
  TITLE     Structure of the substrate-binding b' domain of the Protein
            Disulfide Isomerase-Like protein of the Testis
  JOURNAL   Sci Rep 4, 4464 (2014)
   PUBMED   24662985
  REMARK    GeneRIF: Further studies of this recently discovered PDI member
            would help to understand the important role that PDILT plays in the
            differentiation and maturation of spermatozoids.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2148)
  AUTHORS   Galligan,J.J. and Petersen,D.R.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2148)
  AUTHORS   van Lith,M., Hartigan,N., Hatch,J. and Benham,A.M.
  TITLE     PDILT, a divergent testis-specific protein disulfide isomerase with
            a non-classical SXXC motif that engages in disulfide-dependent
            interactions in the endoplasmic reticulum
  JOURNAL   J Biol Chem 280 (2), 1376-1383 (2005)
   PUBMED   15475357
  REMARK    GeneRIF: The expression of PDILT, in addition to PDI in the testis,
            suggests that PDILT performs a specialized chaperone function in
            testicular cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC137056.3 and BC042607.1.
            
            On May 17, 2019 this sequence version replaced NM_174924.1.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            encoded protein has has an N-terminal ER-signal sequence, two
            thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and
            Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a
            C-terminal ER-retention sequence. The protein lacks oxidoreductase
            activity in vitro and probably functions as a chaperone. This
            gene's expression appears to be limited to the testis. [provided by
            RefSeq, Dec 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK097476.1, BC044936.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302451.9/ ENSP00000305465.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC137056.3         8179-8204           c
            27-2148             BC042607.1         1-2122
FEATURES             Location/Qualifiers
     source          1..2148
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2148
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /note="protein disulfide isomerase like, testis expressed"
                     /db_xref="GeneID:204474"
                     /db_xref="HGNC:HGNC:27338"
                     /db_xref="MIM:618588"
     exon            1..242
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            243..451
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     CDS             250..2004
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /note="protein disulfide isomerase family A, member 7;
                     protein disulfide-isomerase-like protein of the testis"
                     /codon_start=1
                     /product="protein disulfide-isomerase-like protein of the
                     testis precursor"
                     /protein_id="NP_777584.1"
                     /db_xref="CCDS:CCDS10584.1"
                     /db_xref="GeneID:204474"
                     /db_xref="HGNC:HGNC:27338"
                     /db_xref="MIM:618588"
                     /translation="MDLLWMPLLLVAACVSAVHSSPEVNAGVSSIHITKPVHILEERS
                     LLVLTPAGLTQMLNQTRFLMVLFHNPSSKQSRNLAEELGKAVEIMGKGKNGIGFGKVD
                     ITIEKELQQEFGITKAPELKLFFEGNRSEPISCKGVVESAALVVWLRRQISQKAFLFN
                     SSEQVAEFVISRPLVIVGFFQDLEEEVAELFYDVIKDFPELTFGVITIGNVIGRFHVT
                     LDSVLVFKKGKIVNRQKLINDSTNKQELNRVIKQHLTDFVIEYNTENKDLISELHIMS
                     HMLLFVSKSSESYGIIIQHYKLASKEFQNKILFILVDADEPRNGRVFKYFRVTEVDIP
                     SVQILNLSSDARYKMPSDDITYESLKKFGRSFLSKNATKHQSSEEIPKYWDQGLVKQL
                     VGKNFNVVVFDKEKDVFVMFYAPWSKKCKMLFPLLEELGRKYQNHSTIIIAKIDVTAN
                     DIQLMYLDRYPFFRLFPSGSQQAVLYKGEHTLKGFSDFLESHIKTKIEDEDELLSVEQ
                     NEVIEEEVLAEEKEVPMMRKGLPEQQSPELENMTKYVSKLEEPAGKKKTSEEVVVVVA
                     KPKGPPVQKKKPKVKEEL"
     exon            452..658
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            659..792
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            793..930
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1041
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1167
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1365
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1486
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1665
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1666..1755
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1756..2148
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2130..2135
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /note="hexamer: AATAAA"
     polyA_site      2148
                     /gene="PDILT"
                     /gene_synonym="PDIA7"
                     /note="major polyA site"
ORIGIN      
        1 agaactttgc tgctgaggct gctgtggcct ctgtgtgccc aggaagggac ttcatttctg
       61 cctgtggatt ctttagaatg cccagtcgtc tgcgggtcct gccctgatca caaggagaag
      121 ccaggagcct cctcttcagg ctacaacctt ccttcttaag ggccacagag tttgtggccc
      181 cacccccagc acagccccac cttggcccca ggaaccctgg gagtggcctt ggcttcctgc
      241 aggacagcca tggacctact ctggatgccc ctgctgctgg tggccgcttg tgtctctgct
      301 gtccacagct caccagaggt taacgccggt gtttccagca tccacataac caagcctgtg
      361 cacatcctgg aggaacgcag tctcctagtg ctaacgcccg ctggcctgac ccagatgctg
      421 aaccagaccc gcttcctcat ggtgcttttc cacaacccat cctcaaagca atccaggaac
      481 ttggcggaag agctgggcaa agctgtggag atcatgggca aaggcaagaa tgggatcggc
      541 tttggcaaag tggacattac catagagaag gagcttcagc aggagtttgg gattaccaag
      601 gccccggagt tgaagctgtt ttttgagggc aacaggtcag agcccatcag ctgcaaagga
      661 gtggttgaat ctgctgcctt agtcgtttgg ttgagacgac aaattagcca gaaagcattt
      721 ttgttcaaca gcagcgagca ggtggcagag tttgtgatat ccaggccctt ggtcatcgtt
      781 ggcttcttcc aggatttaga ggaagaagta gcagagttgt tctatgatgt gatcaaagac
      841 tttccagagc taacgtttgg agtcataacg attggcaatg tcattgggcg tttccacgtc
      901 acccttgaca gcgtcctggt gttcaaaaag ggaaaaattg tgaaccgcca aaagcttatt
      961 aatgacagta ccaacaaaca ggaactcaat cgtgtcataa aacagcacct tacagatttt
     1021 gtgatcgaat acaacactga gaataaggat ctgatttccg agttgcacat catgagtcac
     1081 atgctgctgt ttgtctccaa aagctccgag tcatatggta tcataattca gcattataag
     1141 ctggcatcaa aggaattcca aaacaagatc cttttcatcc ttgtggatgc agacgaaccc
     1201 agaaatggac gtgtcttcaa gtacttccgg gtcacagagg tcgatatccc atccgtccaa
     1261 atcctaaact tgagctctga cgccaggtac aaaatgcctt cagatgacat aacctacgaa
     1321 agcctcaaga aatttggccg cagcttcctg agtaaaaatg ccacaaaaca tcaatccagt
     1381 gaagagattc caaaatactg ggaccaggga ctggttaagc agctcgtggg gaagaacttc
     1441 aacgtagtcg tctttgacaa agaaaaggac gtatttgtga tgttctatgc accctggtct
     1501 aaaaagtgca agatgctgtt cccactgttg gaggaattgg gcagaaaata tcaaaaccac
     1561 tccacaatta tcattgccaa gatcgatgtc acagcaaatg acattcagct gatgtacctg
     1621 gaccggtacc cattcttcag gctgttcccc agcggctctc aacaagctgt cctgtataag
     1681 ggagaacaca ccctgaaggg cttctctgac ttcctggaaa gccacatcaa aactaagatt
     1741 gaggatgagg atgagctgtt gtctgttgag caaaatgaag tgatagaaga ggaagtgcta
     1801 gctgaggaaa aggaggtgcc tatgatgagg aaagggttac ctgaacagca gtcgcctgag
     1861 ctggagaaca tgaccaagta cgtatccaag ctggaagagc ccgctgggaa gaagaaaaca
     1921 tctgaggagg tggtggtggt ggtggctaag ccaaagggac ctccagtgca aaagaagaaa
     1981 ccaaaagtca aggaagaact ttagcttctc caataccagg aaaaaagatg cttattttcc
     2041 agatcctggc atcattttct gaatggattg attccaataa aagcatatat cattgtggta
     2101 gggtaggtgg ggcgggggta ggggtggata ataaagcctc tgagtgtc
//
