LOCUS       NP_001124437             785 aa            linear   PRI 18-NOV-2024
DEFINITION  SUN domain-containing protein 1 isoform a [Homo sapiens].
ACCESSION   NP_001124437
VERSION     NP_001124437.1
DBSOURCE    REFSEQ: accession NM_001130965.3
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  (residues 1 to 785)
  AUTHORS   Fan,T., Zhu,J., Liu,W., Qu,R., Khan,A.U., Shi,Y., Liu,J., Zhou,Z.,
            Xu,C., Dai,J. and Ouyang,J.
  TITLE     SUN1 inhibits osteogenesis and promotes adipogenesis of human
            adipose-derived stem cells by regulating alpha-tubulin and CD36
            expression
  JOURNAL   J Cell Mol Med 28 (19), e70143 (2024)
   PUBMED   39383106
  REMARK    GeneRIF: SUN1 inhibits osteogenesis and promotes adipogenesis of
            human adipose-derived stem cells by regulating alpha-tubulin and
            CD36 expression.
REFERENCE   2  (residues 1 to 785)
  AUTHORS   Gurusaran,M., Erlandsen,B.S. and Davies,O.R.
  TITLE     The crystal structure of SUN1-KASH6 reveals an asymmetric LINC
            complex architecture compatible with nuclear membrane insertion
  JOURNAL   Commun Biol 7 (1), 138 (2024)
   PUBMED   38291267
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 785)
  AUTHORS   Baskerville,V., Rapuri,S., Mehlhop,E. and Coyne,A.N.
  TITLE     SUN1 facilitates CHMP7 nuclear influx and injury cascades in
            sporadic amyotrophic lateral sclerosis
  JOURNAL   Brain 147 (1), 109-121 (2024)
   PUBMED   37639327
  REMARK    GeneRIF: SUN1 facilitates CHMP7 nuclear influx and injury cascades
            in sporadic amyotrophic lateral sclerosis.
REFERENCE   4  (residues 1 to 785)
  AUTHORS   Meng,Q., Shao,B., Zhao,D., Fu,X., Wang,J., Li,H., Zhou,Q. and
            Gao,T.
  TITLE     Loss of SUN1 function in spermatocytes disrupts the attachment of
            telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans
  JOURNAL   Hum Genet 142 (4), 531-541 (2023)
   PUBMED   36933034
  REMARK    GeneRIF: Loss of SUN1 function in spermatocytes disrupts the
            attachment of telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans.
REFERENCE   5  (residues 1 to 785)
  AUTHORS   Wu,H., Zhang,X., Hua,R., Li,Y., Cheng,L., Li,K., Liu,Y., Gao,Y.,
            Shen,Q., Wang,G., Lv,M., Xu,Y., He,X., Cao,Y. and Liu,M.
  TITLE     Homozygous missense mutation in CCDC155 disrupts the transmembrane
            distribution of CCDC155 and SUN1, resulting in non-obstructive
            azoospermia and premature ovarian insufficiency in humans
  JOURNAL   Hum Genet 141 (11), 1795-1809 (2022)
   PUBMED   35587281
  REMARK    GeneRIF: Homozygous missense mutation in CCDC155 disrupts the
            transmembrane distribution of CCDC155 and SUN1, resulting in
            non-obstructive azoospermia and premature ovarian insufficiency in
            humans.
REFERENCE   6  (residues 1 to 785)
  AUTHORS   Crisp,M., Liu,Q., Roux,K., Rattner,J.B., Shanahan,C., Burke,B.,
            Stahl,P.D. and Hodzic,D.
  TITLE     Coupling of the nucleus and cytoplasm: role of the LINC complex
  JOURNAL   J Cell Biol 172 (1), 41-53 (2006)
   PUBMED   16380439
REFERENCE   7  (residues 1 to 785)
  AUTHORS   Padmakumar,V.C., Libotte,T., Lu,W., Zaim,H., Abraham,S.,
            Noegel,A.A., Gotzmann,J., Foisner,R. and Karakesisoglou,I.
  TITLE     The inner nuclear membrane protein Sun1 mediates the anchorage of
            Nesprin-2 to the nuclear envelope
  JOURNAL   J Cell Sci 118 (Pt 15), 3419-3430 (2005)
   PUBMED   16079285
  REMARK    GeneRIF: The Sun1 itself does not require functional A-type lamins
            for its localisation at the inner nuclear membrane in mammalian
            cells.
REFERENCE   8  (residues 1 to 785)
  AUTHORS   Bray,J.D., Chennathukuzhi,V.M. and Hecht,N.B.
  TITLE     Identification and characterization of cDNAs encoding four novel
            proteins that interact with translin associated factor-X
  JOURNAL   Genomics 79 (6), 799-808 (2002)
   PUBMED   12036294
  REMARK    GeneRIF: Isolation of a cDNA encoding a mouse homolog of the human
            SUN1 (UNC84A) gene.
REFERENCE   9  (residues 1 to 785)
  AUTHORS   Dreger,M., Bengtsson,L., Schoneberg,T., Otto,H. and Hucho,F.
  TITLE     Nuclear envelope proteomics: novel integral membrane proteins of
            the inner nuclear membrane
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11943-11948 (2001)
   PUBMED   11593002
  REMARK    GeneRIF: KIAA0810 is a novel 100-kDa transmembrane protein with
            similarity to Caenorhabditis elegans Unc-84A and resides in the
            inner nuclear membrane. It is likely to interact with the nuclear
            lamina.
REFERENCE   10 (residues 1 to 785)
  AUTHORS   Malone,C.J., Fixsen,W.D., Horvitz,H.R. and Han,M.
  TITLE     UNC-84 localizes to the nuclear envelope and is required for
            nuclear migration and anchoring during C. elegans development
  JOURNAL   Development 126 (14), 3171-3181 (1999)
   PUBMED   10375507
  REMARK    GeneRIF: Describes cloning and function of C. elegans unc-84 and
            cloning of human orthologs.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099731.5, AB018353.1,
            AK022816.1 and BM689998.1.
            
            Summary: This gene is a member of the unc-84 homolog family and
            encodes a nuclear envelope protein with an Unc84 (SUN) domain. The
            protein is involved in nuclear anchorage and migration.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2019].
            
            Transcript Variant: This variant (1) encodes isoform a. Variants 1,
            72, and 73 all encode the same isoform (a).
            
            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 :: BC142707.1, SRR1660809.107361.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000401592.6/ ENSP00000384015.1
            RefSeq Select criteria :: based on computational evidence
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..785
                     /product="SUN domain-containing protein 1 isoform a"
                     /note="Sad1 unc-84 domain protein 1; protein unc-84
                     homolog A; SUN domain-containing protein 1; sad1/unc-84
                     protein-like 1"
                     /calculated_mol_wt=86979
     Region          62..291
                     /region_name="MRP"
                     /note="Mitochondrial RNA binding protein MRP; pfam09387"
                     /db_xref="CDD:430576"
     Region          <365..>589
                     /region_name="SMC_N"
                     /note="RecF/RecN/SMC N terminal domain; cl47134"
                     /db_xref="CDD:481474"
     Region          417..470
                     /region_name="SUN1_cc1"
                     /note="coiled-coil domain 1 of SUN domain-containing
                     protein 1 and similar proteins; cd21439"
                     /db_xref="CDD:410605"
     Site            order(417,420..421,424,427..428,431..432,434..435,
                     438..439,441..442,445..446,448..449,452,455..456,459,
                     462..463,466..467,469..470)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:410605"
     Region          547..605
                     /region_name="HTH_SUN2"
                     /note="SUN2 helix-turn-helix domain; pfam18580"
                     /db_xref="CDD:436594"
     Region          648..783
                     /region_name="Sad1_UNC"
                     /note="Sad1 / UNC-like C-terminal; pfam07738"
                     /db_xref="CDD:400199"
     CDS             1..785
                     /gene="SUN1"
                     /gene_synonym="UNC84A"
                     /coded_by="NM_001130965.3:50..2407"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47525.1"
                     /db_xref="GeneID:23353"
                     /db_xref="HGNC:HGNC:18587"
                     /db_xref="MIM:607723"
ORIGIN      
        1 mdfsrlhmys ppqcvpentg ytyalsssys sdaldfeteh kldpvfdspr msrrslrlat
       61 tactlgdgea vgadsgtssa vslknraart tkqrrstnks afsinhvsrq vtssgvshgg
      121 tvslqdavtr rppvldeswi reqttvdhfw gldddgdlkg gnkaaiqgng dvgaaaatah
      181 ngfscsncsm lserkdvlta hpaapgpvsr vysrdrnqkc yfllqilrri gavgqavsrt
      241 awsalwlavv apgkaasgvf wwlgigwyqf vtliswlnvf lltrclrnic kflvlliplf
      301 lllaglslrg qgnffsflpv lnwasmhrtq rvddpqdvfk pttsrlkqpl qgdseafpwh
      361 wmsgveqqva slsgqchhhg enlrelttll qklqarvdqm eggaagpsas vrdavgqppr
      421 etdfmafhqe hevrmshled ilgklrekse aiqkeleqtk qktisavgeq llptvehlql
      481 eldqlksels swrhvktgce tvdavqervd vqvremvkll fsedqqggsl eqllqrfssq
      541 fvskgdlqtm lrdlqlqilr nvthhvsvtk qlptseavvs avseagasgi teaqaraivn
      601 salklysqdk tgmvdfales gggsilstrc setyetktal mslfgiplwy fsqsprvviq
      661 pdiypgncwa fkgsqgylvv rlsmmihpaa ftlehipktl sptgnissap kdfavyglen
      721 eyqeegqllg qftydqdges lqmfqalkrp ddtafqivel rifsnwghpe ytclyrfrvh
      781 gepvk
//
