LOCUS       NM_001395907            1620 bp    mRNA    linear   PRI 23-MAR-2024
DEFINITION  Homo sapiens golgi associated RAB2 interactor family member 2
            (GARIN2), transcript variant 1, mRNA.
ACCESSION   NM_001395907
VERSION     NM_001395907.1
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 1620)
  AUTHORS   Zhu,X., Liu,L., Tian,S., Zhao,G., Zhi,E., Chen,Q., Zhang,F.,
            Zhang,A., Tang,S. and Liu,C.
  TITLE     Deleterious variant in FAM71D cause male infertility with
            asthenoteratospermia
  JOURNAL   Mol Genet Genomics 299 (1), 35 (2024)
   PUBMED   38489045
  REMARK    GeneRIF: Deleterious variant in FAM71D cause male infertility with
            asthenoteratospermia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1620)
  AUTHORS   Mo,S., Deng,K., Cao,C., Gui,Y. and Ma,Q.
  TITLE     FAM71D is dispensable for spermatogenesis and male fertility in
            mice
  JOURNAL   Mol Reprod Dev 90 (12), 804-809 (2023)
   PUBMED   37992210
  REMARK    GeneRIF: FAM71D is dispensable for spermatogenesis and male
            fertility in mice.
REFERENCE   3  (bases 1 to 1620)
  AUTHORS   Ma,Q., Li,Y., Luo,M., Guo,H., Lin,S., Chen,J., Du,Y., Jiang,Z. and
            Gui,Y.
  TITLE     The expression characteristics of FAM71D and its association with
            sperm motility
  JOURNAL   Hum Reprod 32 (11), 2178-2187 (2017)
   PUBMED   29025071
  REMARK    GeneRIF: Our results showed that FAM71D was exclusively expressed
            in the testis in an age-dependent manner. FAM71D expression
            exhibited dynamic change in the cytoplasm of spermatids during
            spermiogenesis and was finally retained in sperm flagella. FAM71D
            could interact with calmodulin.
REFERENCE   4  (bases 1 to 1620)
  AUTHORS   Teles Alves,I., Hartjes,T., McClellan,E., Hiltemann,S.,
            Bottcher,R., Dits,N., Temanni,M.R., Janssen,B., van Workum,W., van
            der Spek,P., Stubbs,A., de Klein,A., Eussen,B., Trapman,J. and
            Jenster,G.
  TITLE     Next-generation sequencing reveals novel rare fusion events with
            functional implication in prostate cancer
  JOURNAL   Oncogene 34 (5), 568-577 (2015)
   PUBMED   24488012
  REMARK    GeneRIF: The unique in-frame MPP5-FAM71D fusion product is
            important for proliferation of PC346C cells.
REFERENCE   5  (bases 1 to 1620)
  AUTHORS   Fukuda,M., Kanno,E., Ishibashi,K. and Itoh,T.
  TITLE     Large scale screening for novel rab effectors reveals unexpected
            broad Rab binding specificity
  JOURNAL   Mol Cell Proteomics 7 (6), 1031-1042 (2008)
   PUBMED   18256213
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135978.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.217389.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000696955.1/ ENSP00000512992.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-130               AL135978.4         144386-144515       c
            131-217             AL135978.4         136598-136684       c
            218-402             AL135978.4         135635-135819       c
            403-602             AL135978.4         130662-130861       c
            603-1155            AL135978.4         128866-129418       c
            1156-1403           AL135978.4         125506-125753       c
            1404-1432           AL135978.4         112148-112176       c
            1433-1620           AL135978.4         110015-110202       c
FEATURES             Location/Qualifiers
     source          1..1620
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.3"
     gene            1..1620
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /note="golgi associated RAB2 interactor family member 2"
                     /db_xref="GeneID:161142"
                     /db_xref="HGNC:HGNC:20101"
                     /db_xref="MIM:619898"
     exon            1..130
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     exon            131..217
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     exon            218..402
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             244..1497
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM71D; family with sequence similarity 71 member
                     D; Golgi associated RAB2 interactor protein 2"
                     /codon_start=1
                     /product="Golgi-associated RAB2 interactor protein 2
                     isoform 1"
                     /protein_id="NP_001382836.1"
                     /db_xref="CCDS:CCDS91889.1"
                     /db_xref="GeneID:161142"
                     /db_xref="HGNC:HGNC:20101"
                     /db_xref="MIM:619898"
                     /translation="MKKNTSKTTMRINKQDALCTPHSHDPRDLQNMLDGGEYAPFVSP
                     PMLESNFIQVNRRGESIYLHNRANWVTVGICFSSSTHKIPNVMLLAHLTPGAQKDTET
                     LFKSLLTSPPAEKLVLTRFLPLQFVTLSVHDAENMSLKVKLVSGRAYYLQLCTSAYKQ
                     DTLFSQWVALISLLNQEKAKVSKVSEVSSLSGITNSTDITGSMDVTDVTTFTAILTPY
                     MYAGTGPEHVRDSIDFPEFTDITDITDVTDLPENEVPEVPDVRIVTEVIEVREATEVT
                     DSSDITNCSGVTVVFENNDLIRAKQEEKEKLKNILKPGCLQDTKSKSELKESSKHVTI
                     SNITLTFEGKRYFQTTLTPVESEANTSKEMKDKTSEEKMPDFQSTALKAEESRSLRTE
                     SNTSGLYSFSVFPLISISFPIFTLL"
     exon            403..602
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     exon            603..1155
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1403
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1432
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1620
                     /gene="GARIN2"
                     /gene_synonym="C14orf54; FAM71D; GARI-L1; GARI-L2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agttgcctgc tgagtagaca taaacacctg ctaaagaaat gtgaaaagag tggaaacgtg
       61 ctatttggag gttattttcc tagtcgacat ccaggagatc tccagagatc tatttcagcc
      121 ccacctgttg atttcatcat gaaaaggagg aagctcaaac tgaagtgagt taaaaacttc
      181 atctcctaga gaggactgtg gctcggcctg agttgagttt ttttatgttt atgtgcaagc
      241 gcaatgaaga agaacaccag caagactacc atgaggatca ataagcaaga tgctctctgc
      301 accccacact cccatgatcc gagagatctt caaaatatgt tggatggagg agagtatgcc
      361 ccttttgtat ctcctcccat gttagagagc aattttatcc aggtcaacag aagaggtgaa
      421 tccatttacc ttcataaccg agccaactgg gtgaccgtag gcatctgttt ttccagctcc
      481 acccacaaga tccccaatgt gatgctactg gcccatctga cacctggtgc ccaaaaagat
      541 acagaaaccc tgtttaaaag tctcctgaca tctcctcctg cagagaaact agtgctcacc
      601 aggtttctcc ctctgcagtt tgtgactctt tctgtgcatg atgcggagaa catgagcctg
      661 aaagtaaagc tggtgagtgg tcgagcctac tacttacagc tctgcacctc tgcatataaa
      721 caggacacct tgttttctca atgggtggcc ctcatctccc tcttgaatca ggagaaagcc
      781 aaagtttcca aagtgtcgga ggtttcaagt ctctcaggaa ttacgaatag cacagacatc
      841 acaggctcca tggatgtgac ggatgtcacc acgttcacag ccatcctgac cccgtacatg
      901 tatgcaggta caggccctga acatgtcagg gacagcatag atttcccaga attcacagac
      961 atcaccgaca tcacagatgt cacagatctt ccagaaaatg aggtcccaga ggtcccggat
     1021 gtaagaattg tcacagaagt catagaagtc agagaagcca cggaagtcac agacagctct
     1081 gatattacaa actgctcggg agtcacagtg gtgtttgaaa acaatgactt aatcagggcc
     1141 aagcaagagg agaaggaaaa attgaaaaac attctgaagc ctgggtgttt acaagataca
     1201 aaaagtaaga gtgagttgaa agaatcctca aaacatgtca ccatctcaaa cataacactg
     1261 acttttgaag gtaaaagata ttttcaaact accttgaccc cagtagaaag tgaggcaaat
     1321 acatccaagg agatgaagga taagacctct gaagaaaaga tgcctgattt tcagagcaca
     1381 gctctcaagg ctgaagaatc caggagcttg agaactgaat caaacacttc aggcttgtat
     1441 agtttttcag tttttcccct gattagcatt tctttcccca ttttcactct cctctaaatc
     1501 acctgttccc cttccataca cttttactct cacttaacac cctgtacccc aagaaaagca
     1561 aagactggct gaatcttaat acctcatttt attaaatgta attggagtac aaattaaaaa
//
