LOCUS       NM_001288583             506 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens small integral membrane protein 1 (Vel blood group)
            (SMIM1), transcript variant 2, mRNA.
ACCESSION   NM_001288583
VERSION     NM_001288583.2
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 506)
  AUTHORS   Stefanucci,L., Moslemi,C., Tome,A.R., Virtue,S., Bidault,G.,
            Gleadall,N.S., Watson,L.P.E., Kwa,J.E., Burden,F., Farrow,S.,
            Chen,J., Vosa,U., Burling,K., Walker,L., Ord,J., Barker,P.,
            Warner,J., Frary,A., Renhstrom,K., Ashford,S.E., Piper,J.,
            Biggs,G., Erber,W.N., Hoffman,G.J., Schoenmakers,N., Erikstrup,C.,
            Rieneck,K., Dziegiel,M.H., Ullum,H., Azzu,V., Vacca,M.,
            Aparicio,H.J., Hui,Q., Cho,K., Sun,Y.V., Wilson,P.W.,
            Bayraktar,O.A., Vidal-Puig,A., Ostrowski,S.R., Astle,W.J.,
            Olsson,M.L., Storry,J.R., Pedersen,O.B., Ouwehand,W.H.,
            Chatterjee,K., Vuckovic,D. and Frontini,M.
  CONSRTM   DBDS Genetic Consortium; MAGIC
  TITLE     SMIM1 absence is associated with reduced energy expenditure and
            excess weight
  JOURNAL   Med 5 (9), 1083-1095 (2024)
   PUBMED   38906141
  REMARK    GeneRIF: SMIM1 absence is associated with reduced energy
            expenditure and excess weight.
REFERENCE   2  (bases 1 to 506)
  AUTHORS   van der Rijst,M.V.E., Abay,A., Aglialoro,F., van der Schoot,C.E.
            and van den Akker,E.
  TITLE     SMIM1 missense mutations exert their effect on wild type Vel
            expression late in erythroid differentiation
  JOURNAL   Transfusion 61 (1), 236-245 (2021)
   PUBMED   33128268
  REMARK    GeneRIF: SMIM1 missense mutations exert their effect on wild type
            Vel expression late in erythroid differentiation.
REFERENCE   3  (bases 1 to 506)
  AUTHORS   Nylander,A., Leznicki,P., Vidovic,K., High,S. and Olsson,M.L.
  TITLE     SMIM1, carrier of the Vel blood group, is a tail-anchored
            transmembrane protein and readily forms homodimers in a cell-free
            system
  JOURNAL   Biosci Rep 40 (5) (2020)
   PUBMED   32301496
  REMARK    GeneRIF: SMIM1, carrier of the Vel blood group, is a tail-anchored
            transmembrane protein and readily forms homodimers in a cell-free
            system.
REFERENCE   4  (bases 1 to 506)
  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   5  (bases 1 to 506)
  AUTHORS   Kelley,L.P., Nylander,A., Arnaud,L., Schmoker,A.M., St Clair,R.M.,
            Gleason,L.A., Souza,J.M., Storry,J.R., Olsson,M.L. and Ballif,B.A.
  TITLE     Dimerization of small integral membrane protein 1 promotes cell
            surface presentation of the Vel blood group epitope
  JOURNAL   FEBS Lett 594 (8), 1261-1270 (2020)
   PUBMED   31879955
  REMARK    GeneRIF: Dimerization of small integral membrane protein 1 promotes
            cell surface presentation of the Vel blood group epitope.
REFERENCE   6  (bases 1 to 506)
  AUTHORS   Haer-Wigman,L., Stegmann,T.C., Solati,S., Ait Soussan,A.,
            Beckers,E., van der Harst,P., van Hulst-Sundermeijer,M.,
            Ligthart,P., van Rhenen,D., Schepers,H., de Haas,M. and van der
            Schoot,C.E.
  TITLE     Impact of genetic variation in the SMIM1 gene on Vel expression
            levels
  JOURNAL   Transfusion 55 (6 Pt 2), 1457-1466 (2015)
   PUBMED   25647324
  REMARK    GeneRIF: Weak Vel expression levels are caused by multiple genetic
            factors in SMIM1 and probably also by other genetic or
            environmental factors.
REFERENCE   7  (bases 1 to 506)
  AUTHORS   Evans,D.M., Zhu,G., Dy,V., Heath,A.C., Madden,P.A., Kemp,J.P.,
            McMahon,G., St Pourcain,B., Timpson,N.J., Golding,J., Lawlor,D.A.,
            Steer,C., Montgomery,G.W., Martin,N.G., Smith,G.D. and
            Whitfield,J.B.
  TITLE     Genome-wide association study identifies loci affecting blood
            copper, selenium and zinc
  JOURNAL   Hum Mol Genet 22 (19), 3998-4006 (2013)
   PUBMED   23720494
REFERENCE   8  (bases 1 to 506)
  AUTHORS   Cvejic,A., Haer-Wigman,L., Stephens,J.C., Kostadima,M.,
            Smethurst,P.A., Frontini,M., van den Akker,E., Bertone,P.,
            Bielczyk-Maczynska,E., Farrow,S., Fehrmann,R.S., Gray,A., de
            Haas,M., Haver,V.G., Jordan,G., Karjalainen,J., Kerstens,H.H.,
            Kiddle,G., Lloyd-Jones,H., Needs,M., Poole,J., Soussan,A.A.,
            Rendon,A., Rieneck,K., Sambrook,J.G., Schepers,H., Sillje,H.H.W.,
            Sipos,B., Swinkels,D., Tamuri,A.U., Verweij,N., Watkins,N.A.,
            Westra,H.J., Stemple,D., Franke,L., Soranzo,N., Stunnenberg,H.G.,
            Goldman,N., van der Harst,P., van der Schoot,C.E., Ouwehand,W.H.
            and Albers,C.A.
  TITLE     SMIM1 underlies the Vel blood group and influences red blood cell
            traits
  JOURNAL   Nat Genet 45 (5), 542-545 (2013)
   PUBMED   23563608
  REMARK    GeneRIF: Loss of SMIM1 is associated with reduction in red blood
            cell formation.
REFERENCE   9  (bases 1 to 506)
  AUTHORS   Storry,J.R., Joud,M., Christophersen,M.K., Thuresson,B.,
            Akerstrom,B., Sojka,B.N., Nilsson,B. and Olsson,M.L.
  TITLE     Homozygosity for a null allele of SMIM1 defines the Vel-negative
            blood group phenotype
  JOURNAL   Nat Genet 45 (5), 537-541 (2013)
   PUBMED   23563606
  REMARK    GeneRIF: Loss of SMIM1 is associated with reduction in red blood
            cell formation.
REFERENCE   10 (bases 1 to 506)
  AUTHORS   Ballif,B.A., Helias,V., Peyrard,T., Menanteau,C., Saison,C.,
            Lucien,N., Bourgouin,S., Le Gall,M., Cartron,J.P. and Arnaud,L.
  TITLE     Disruption of SMIM1 causes the Vel- blood type
  JOURNAL   EMBO Mol Med 5 (5), 751-761 (2013)
   PUBMED   23505126
  REMARK    GeneRIF: A cohort of 70 Vel- individuals was found to be uniformly
            homozygous for a 17 nucleotide deletion in the coding sequence of
            SMIM1.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365330.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 14, 2020 this sequence version replaced NM_001288583.1.
            
            Summary: This gene encodes a small, conserved protein that
            participates in red blood cell formation. The encoded protein is
            localized to the cell membrane and is the antigen for the Vel blood
            group. Alternative splicing results in different transcript
            variants that encode the same protein. [provided by RefSeq, Dec
            2013].
            
            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 :: KC152644.1, SRR18074969.1057342.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642557.4/ ENSP00000496314.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AL365330.16        3619-3658
            41-159              AL365330.16        3933-4051
            160-344             AL365330.16        6169-6353
            345-506             AL365330.16        6665-6826
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..506
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /note="small integral membrane protein 1 (Vel blood
                     group)"
                     /db_xref="GeneID:388588"
                     /db_xref="HGNC:HGNC:44204"
                     /db_xref="MIM:615242"
     exon            1..40
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /inference="alignment:Splign:2.1.0"
     exon            41..159
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /inference="alignment:Splign:2.1.0"
     exon            160..344
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /inference="alignment:Splign:2.1.0"
     CDS             235..471
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /note="vel blood group antigen; bloodgroup VEL protein"
                     /codon_start=1
                     /product="small integral membrane protein 1"
                     /protein_id="NP_001275512.1"
                     /db_xref="CCDS:CCDS57966.1"
                     /db_xref="GeneID:388588"
                     /db_xref="HGNC:HGNC:44204"
                     /db_xref="MIM:615242"
                     /translation="MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCT
                     GKLGIAMKVLGGVALFWIIFILGYLTGYYVHKCK"
     exon            345..506
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /inference="alignment:Splign:2.1.0"
     regulatory      467..472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /note="hexamer: AATAAA"
     polyA_site      506
                     /gene="SMIM1"
                     /gene_synonym="Vel"
                     /note="major polyA site"
ORIGIN      
        1 aggcccggcc cctgcggagc ccagagacgc ggggacacag gctcgaggcg tctgccgcac
       61 ctcagcccac gacctgcccc gctgggaggt gcgggccgct ggccaggccc tgaccgcaac
      121 ctggcccaga ggccccagcc ctcaggcaag gttctccggt gaagccacag cctggccacc
      181 tgtcttgatc tccccaccga gaaggccccg cccctcccgc tgcagcccca cagcatgcag
      241 ccccaggaga gccacgtcca ctatagtagg tgggaggacg gcagcaggga cggagtcagc
      301 ctaggggctg tgtccagcac agaagaggcc tcacgctgcc gcaggatctc ccagaggctg
      361 tgcacgggca agctgggcat cgccatgaag gtgctgggcg gcgtggccct cttctggatc
      421 atcttcatcc tgggctacct cacaggctac tatgtgcaca agtgcaaata aatgctgccc
      481 cgcatgcacg cggggggctg gccgca
//
