LOCUS       NM_005434               2317 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens mal, T cell differentiation protein like (MALL),
            transcript variant 1, mRNA.
ACCESSION   NM_005434 XM_003403756 XM_003403757
VERSION     NM_005434.5
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 2317)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2317)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2317)
  AUTHORS   Kang,H.G., Ahn,Y.H., Kim,J.H., Ha,I.S., Yu,Y.S., Park,Y.H. and
            Cheong,H.I.
  TITLE     Atypical retinopathy in patients with nephronophthisis type 1: an
            uncommon ophthalmological finding
  JOURNAL   Clin Exp Ophthalmol 43 (5), 437-442 (2015)
   PUBMED   25401970
  REMARK    GeneRIF: We report the unexpectedly common retinal involvement of
            NPHP type 1 with an additional MALL deletion in a Korean cohort.
REFERENCE   4  (bases 1 to 2317)
  AUTHORS   Kim,K., Park,U., Wang,J., Lee,J., Park,S., Kim,S., Choi,D., Kim,C.
            and Park,J.
  TITLE     Gene profiling of colonic serrated adenomas by using
            oligonucleotide microarray
  JOURNAL   Int J Colorectal Dis 23 (6), 569-580 (2008)
   PUBMED   18305945
  REMARK    GeneRIF: in colonic serrated adenomas three genes (TNFRSF10A, BENE,
            RARA) with strongly significant expression intensities in the
            oligonucleotide microarray
REFERENCE   5  (bases 1 to 2317)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (bases 1 to 2317)
  AUTHORS   Saunier,S., Calado,J., Heilig,R., Silbermann,F., Benessy,F.,
            Morin,G., Konrad,M., Broyer,M., Gubler,M.C., Weissenbach,J. and
            Antignac,C.
  TITLE     A novel gene that encodes a protein with a putative src homology 3
            domain is a candidate gene for familial juvenile nephronophthisis
  JOURNAL   Hum Mol Genet 6 (13), 2317-2323 (1997)
   PUBMED   9361039
REFERENCE   7  (bases 1 to 2317)
  AUTHORS   Hildebrandt,F., Otto,E., Rensing,C., Nothwang,H.G., Vollmer,M.,
            Adolphs,J., Hanusch,H. and Brandis,M.
  TITLE     A novel gene encoding an SH3 domain protein is mutated in
            nephronophthisis type 1
  JOURNAL   Nat Genet 17 (2), 149-153 (1997)
   PUBMED   9326933
REFERENCE   8  (bases 1 to 2317)
  AUTHORS   Magyar,J.P., Ebensperger,C., Schaeren-Wiemers,N. and Suter,U.
  TITLE     Myelin and lymphocyte protein (MAL/MVP17/VIP17) and plasmolipin are
            members of an extended gene family
  JOURNAL   Gene 189 (2), 269-275 (1997)
   PUBMED   9168137
REFERENCE   9  (bases 1 to 2317)
  AUTHORS   Lautner-Rieske,A., Thiebe,R. and Zachau,H.G.
  TITLE     Searching for non-V kappa transcripts from the human immunoglobulin
            kappa locus
  JOURNAL   Gene 159 (2), 199-202 (1995)
   PUBMED   7622049
REFERENCE   10 (bases 1 to 2317)
  AUTHORS   Kurdina,M.I. and Denisov,L.E.
  TITLE     [An evaluation of the efficacy of dispensary care as a method for
            the active detection of skin melanoma]
  JOURNAL   Klin Med (Mosk) 70 (11-12), 68-70 (1992)
   PUBMED   1294831
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013268.5.
            
            On Jul 18, 2019 this sequence version replaced NM_005434.4.
            
            Summary: This gene encodes an element of the machinery for
            raft-mediated trafficking in endothelial cells. The encoded
            protein, a member of the MAL proteolipid family, predominantly
            localizes in glycolipid- and cholesterol-enriched membrane (GEM)
            rafts. It interacts with caveolin-1. [provided by RefSeq, Jul
            2008].
            
            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 :: U17077.1, SRR11853566.15677.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272462.3/ ENSP00000272462.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-135               AC013268.5         179910-180044       c
            136-303             AC013268.5         155825-155992       c
            304-429             AC013268.5         151794-151919       c
            430-2317            AC013268.5         148092-149979       c
FEATURES             Location/Qualifiers
     source          1..2317
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     gene            1..2317
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /note="mal, T cell differentiation protein like"
                     /db_xref="GeneID:7851"
                     /db_xref="HGNC:HGNC:6818"
                     /db_xref="MIM:602022"
     exon            1..135
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..492
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /note="isoform 1 is encoded by transcript variant 1;
                     MAL-like protein"
                     /codon_start=1
                     /product="MAL-like protein isoform 1"
                     /protein_id="NP_005425.1"
                     /db_xref="CCDS:CCDS2085.1"
                     /db_xref="GeneID:7851"
                     /db_xref="HGNC:HGNC:6818"
                     /db_xref="MIM:602022"
                     /translation="MASPDPPATSYAPSDVPSGVALFLTIPFAFFLPELIFGFLVWTM
                     VAATHIVYPLLQGWVMYVSLTSFLISLMFLLSYLFGFYKRFESWRVLDSLYHGTTGIL
                     YMSAAVLQVHATIVSEKLLDPRIYYINSAASFFAFIATLLYILHAFSIYYH"
     exon            136..303
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /inference="alignment:Splign:2.1.0"
     exon            304..429
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /inference="alignment:Splign:2.1.0"
     exon            430..2317
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1995..2000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /note="hexamer: AATAAA"
     polyA_site      2017
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /note="major polyA site"
     regulatory      2293..2298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /note="hexamer: AATAAA"
     polyA_site      2317
                     /gene="MALL"
                     /gene_synonym="BENE"
                     /note="major polyA site"
ORIGIN      
        1 gccgcggagc acccggcagg ggctgacagc atggcctcgc ccgacccgcc cgccaccagc
       61 tacgccccgt ccgacgtgcc ctcgggggtc gcgctgttcc tcaccatccc tttcgccttc
      121 ttcctgcccg agctgatatt tgggttcttg gtctggacca tggtagccgc cacccacata
      181 gtatacccct tgctgcaagg atgggtgatg tatgtctcgc tcacctcgtt tctcatctcc
      241 ttgatgttcc tgttgtctta cttgtttgga ttttacaaaa gatttgaatc ctggagagtt
      301 ctggacagcc tgtaccacgg gaccactggc atcctgtaca tgagcgctgc cgtcctacaa
      361 gtacatgcca cgattgtttc tgagaaactg ctggacccaa gaatttacta cattaattcg
      421 gcagcctcgt tcttcgcctt catcgccacg ctgctctaca ttctccatgc cttcagcatc
      481 tattaccact gatgcacagg cgccaggcca agggggaaat gctctttgaa agctccaatt
      541 attggtcccc aaaagcagct tccaacgttt gccatctgga tgacaaacgg aagatccact
      601 aaaacgtcca cgggattaac agaacgtcct tgcagactga gcgatgacac cacactttgt
      661 ttggacattt aaattcactc tgctgaatag gaggaagctt ttctttttcc tgggaaaaca
      721 actgtctctt ggaattatct gaccatgaac ttgctcttct agacaactca catcaaagcc
      781 ctcactccac taatggagaa tcctagcccc actaatgcca agtctgtttg gggattttgc
      841 ctcagctatg ggcttcccta gagtaggtct aggggaatac tcagtctgat cttttttttg
      901 tttgttttat tttgtttttt ttgagacgga gtctcgctct tcctccaagg ctggagtgca
      961 gtgacgcgat ctccactcac tgcaggctcc gcctcccggg ttcccgccat tctcctgcct
     1021 cagcctcccg agtagccggg actacaggcg cccaccaccg tgcccggcta atttagttgt
     1081 atttttagta gagatggggt ttcaccgtat tagccaggat ggtctcgatc tcctgacctc
     1141 gtgatccgcc cgcctcggcc tcccaaagtg ctgggattac aggcgtgagc caccgcgccc
     1201 ggcctgattc tcttaaaatt gaagaggtgc tgccaaggcc ttcagatcta acgcagatgc
     1261 atagaccttg ttcctggtac ttgttcagcc tgtgctgggg agccgtggtc ccgagttccc
     1321 tgggaggctg acagggtcaa gccaccctgc ccaccaccct cccacttccc ctcccctttc
     1381 ctctccagca ttaggattca agggaaattt gcatgaagcc aattttgagg gtagacgtgt
     1441 ggggaaaata aatcattata cagtaagacc tggggcttga ggggtgggga atggggaggg
     1501 aagggcatag cctgctcctc catgagtctg acatctcgga aactgagcag ctgccggacg
     1561 cctgggtcag gaatccaaga ccccacctct taaggactgg ttcctcagaa agcaccctca
     1621 gggaaaaagg tgaaaacatt acatccgtgg attctcctgc cacaaccgca ttggaagaaa
     1681 aggctgccgc aacatctcag cgaggagtga aggacccatg tcccaggaac cgcgctgcgc
     1741 cacctgcact cacccccctc acattctctt aagcacccgg tggccctccg aggcctggcg
     1801 gaatggtggt gcccacgggg ttgggcaagg gctcaccagg acctcaacgg gcaaagttgt
     1861 gcacactaaa atatcaaatc aaggtgcttg gttttaaagt aaatgttttt ctaaagaaag
     1921 ctgtgctctt ctgttgaccc agacgaatag ggcacagccc tgtaactgca cgtgccttct
     1981 gtcattggga atgaaataaa ttattacgag aaagggactt gtcctaactg gtttgaggcc
     2041 ttacagtttt gtatctacat ttttcccctc ctggggtttg cggggacagg gacagaacta
     2101 caggagtcat gggaaagaaa attctggctt cactactgct cactgctcac tttctgatca
     2161 ctctgatact tttttttttt tttttttttt tgcaacctga taccttgaaa agcttctatg
     2221 tgtctctcct tttgttgcct ggcagctgtc taggatgatc actgattact atttactaag
     2281 tagccacatg caaataaaag ttgtttggta aaaagga
//
