LOCUS       NM_001031834            1029 bp    mRNA    linear   PRI 31-MAY-2024
DEFINITION  Homo sapiens RAB40A like (RAB40AL), mRNA.
ACCESSION   NM_001031834 XM_208443
VERSION     NM_001031834.1
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 1029)
  AUTHORS   Hiatt,S.M., Neu,M.B., Ramaker,R.C., Hardigan,A.A., Prokop,J.W.,
            Hancarova,M., Prchalova,D., Havlovicova,M., Prchal,J.,
            Stranecky,V., Yim,D.K.C., Powis,Z., Keren,B., Nava,C., Mignot,C.,
            Rio,M., Revah-Politi,A., Hemati,P., Stong,N., Iglesias,A.D.,
            Suchy,S.F., Willaert,R., Wentzensen,I.M., Wheeler,P.G., Brick,L.,
            Kozenko,M., Hurst,A.C.E., Wheless,J.W., Lacassie,Y., Myers,R.M.,
            Barsh,G.S., Sedlacek,Z. and Cooper,G.M.
  TITLE     De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like
            small GTPase, cause intellectual disability and developmental delay
  JOURNAL   PLoS Genet 14 (11), e1007671 (2018)
   PUBMED   30500825
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1029)
  AUTHORS   Oldak,M., Ruszkowska,E., Pollak,A., Sobczyk-Kopciol,A.,
            Kowalewski,C., Piwonska,A., Drygas,W. and Ploski,R.
  TITLE     A note of caution on the diagnosis of Martin-Probst syndrome by the
            detection of the p.D59G mutation in the RAB40AL gene
  JOURNAL   Eur J Pediatr 174 (5), 693-696 (2015)
   PUBMED   25370018
  REMARK    GeneRIF: Our findings are inconsistent with a causative effect of
            RAB40AL p.D59G on cognitive impairment combined with severe to
            profound bilateral hearing loss but indicate that p.D59G is a
            common genetic variation.
REFERENCE   3  (bases 1 to 1029)
  AUTHORS   Oldak,M., Sciezynska,A., Mlynarski,W., Borowiec,M., Ruszkowska,E.,
            Szulborski,K., Pollak,A., Kosinska,J., Mueller-Malesinska,M.,
            Stawinski,P., Szaflik,J.P. and Ploski,R.
  TITLE     Evidence against RAB40AL being the locus for Martin-Probst X-linked
            deafness-intellectual disability syndrome
  JOURNAL   Hum Mutat 35 (10), 1171-1174 (2014)
   PUBMED   25044830
  REMARK    GeneRIF: Data question the role of RAB40AL mutation as a
            disease-causing change and the involvement of RAB40AL in
            Martin-Probst syndrome.
REFERENCE   4  (bases 1 to 1029)
  AUTHORS   Lee,J., Wong,S. and Boles,R.G.
  TITLE     Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with
            mental retardation, sensorineural hearing loss, and anomalies of
            the craniofacies and genitourinary tract: a second case report
  JOURNAL   Eur J Pediatr 173 (7), 967-969 (2014)
   PUBMED   24863632
  REMARK    GeneRIF: We herein present an unrelated 20-year-old male with
            similar manifestations also with p.D59G in the RAB40AL gene, which
            supports the existence of this condition previously coined as
            Martin-Probst syndrome
REFERENCE   5  (bases 1 to 1029)
  AUTHORS   Bedoyan,J.K., Schaibley,V.M., Peng,W., Bai,Y., Mondal,K.,
            Shetty,A.C., Durham,M., Micucci,J.A., Dhiraaj,A., Skidmore,J.M.,
            Kaplan,J.B., Skinner,C., Schwartz,C.E., Antonellis,A., Zwick,M.E.,
            Cavalcoli,J.D., Li,J.Z. and Martin,D.M.
  TITLE     Disruption of RAB40AL function leads to Martin--Probst syndrome, a
            rare X-linked multisystem neurodevelopmental human disorder
  JOURNAL   J Med Genet 49 (5), 332-340 (2012)
   PUBMED   22581972
  REMARK    GeneRIF: This is the first study to show that mutation of RAB40AL
            is associated with a human disorder.
REFERENCE   6  (bases 1 to 1029)
  AUTHORS   Saito-Ohara,F., Fukuda,Y., Ito,M., Agarwala,K.L., Hayashi,M.,
            Matsuo,M., Imoto,I., Yamakawa,K., Nakamura,Y. and Inazawa,J.
  TITLE     The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase
            gene in a patient with Duchenne muscular dystrophy and profound
            mental retardation
  JOURNAL   Am J Hum Genet 71 (3), 637-645 (2002)
   PUBMED   12145744
REFERENCE   7  (bases 1 to 1029)
  AUTHORS   Kile,B.T., Schulman,B.A., Alexander,W.S., Nicola,N.A., Martin,H.M.
            and Hilton,D.J.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC101172.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 20, 2005 this sequence version replaced XM_208443.5.
            
            Summary: This gene encodes a member of the Rab40 subfamily of Rab
            small GTP-binding proteins that contains a C-terminal suppressors
            of cytokine signaling box. Disruptions in this gene are associated
            with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC101169.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218249.7/ ENSP00000218249.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1029
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..1029
                     /gene="RAB40AL"
                     /gene_synonym="MRXSMP; RAR2; RLGP"
                     /note="RAB40A like"
                     /db_xref="GeneID:282808"
                     /db_xref="HGNC:HGNC:25410"
                     /db_xref="MIM:300405"
     exon            1..1029
                     /gene="RAB40AL"
                     /gene_synonym="MRXSMP; RAR2; RLGP"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..884
                     /gene="RAB40AL"
                     /gene_synonym="MRXSMP; RAR2; RLGP"
                     /note="Ras like GTPase; SOCS box containing protein RAR2;
                     ras-like GTPase; RAB40A, member RAS oncogene family-like"
                     /codon_start=1
                     /product="ras-related protein Rab-40A-like"
                     /protein_id="NP_001027004.1"
                     /db_xref="CCDS:CCDS35353.1"
                     /db_xref="GeneID:282808"
                     /db_xref="HGNC:HGNC:25410"
                     /db_xref="MIM:300405"
                     /translation="MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYS
                     HLGGIDYKTTTILLDGQRVKLKLWDTSGQGRFCTIFRSYSRGAQGVILVYDIANRWSF
                     EGMDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQAQAYAERLGVTFFEVSPLCN
                     FNIIESFTELARIVLLRHRLNWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPIAL
                     RSHLKSFSMAKGLNARMMRGLSYSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCK
                     IS"
ORIGIN      
        1 cgcacaacct tgctggtctg gcccaggcgg ggggcggggc cagcacgatg agcgccccgg
       61 gcagccccga ccaggcctac gacttcctgc tcaagttcct gctggtgggc gacagggacg
      121 taggcaagag tgagatcctg gagagcctgc aggacggcac ggccgagtcc ccgtacagtc
      181 acctgggggg aatcgactac aagacgacca ccatcctgct ggacggccag cgggtgaagc
      241 tgaagctctg ggatacgtcg gggcagggaa gattttgtac catattccgc tcctactctc
      301 gtggtgcaca aggagtgatc ctggtctacg acattgcaaa ccgctggtct ttcgagggta
      361 tggatcgatg gattaagaag attgaggaac atgcccctgg tgtccctaaa atcctggtgg
      421 ggaatcgcct acatctggca ttcaagaggc aggtgcccag ggagcaggcc caggcctacg
      481 ccgagcgcct gggcgtgacc ttctttgagg tcagccctct gtgcaatttc aacatcatag
      541 agtctttcac ggagctggcc aggatagtgc tgctgcggca caggttgaac tggctcggga
      601 ggccgagcaa ggtactgagc ttgcaagacc tctgctgccg caccatcgtg tcctgcacac
      661 ctgtgcatct ggtggacaag ctcccgctcc ccattgcctt aagaagccac ctcaagtcct
      721 tctccatggc taagggcctg aatgccagga tgatgcgagg cctctcctac tccctcacca
      781 ccagctccac tcacaaaagg agcagcctct gcaaagtgaa gatcgtctgc ccaccccaga
      841 gcccacccaa aaactgcacc agaaacagct gcaaaatttc ttaaggaagg caccaaaagg
      901 aaacaagctg gaatcgctcc aggaaaaact ctgaatggtt acacctggaa gagggaagat
      961 gcattctaga ttcaaagaaa tacgttttca gtttctcatg ggaacaatgc tgcttgggaa
     1021 tgtgtgtga
//
