LOCUS       NM_138289               1442 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens actin related protein T1 (ACTRT1), mRNA.
ACCESSION   NM_138289
VERSION     NM_138289.4
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 1442)
  AUTHORS   Zhang,Q., Jin,H., Long,S., Tang,X., Li,J., Liu,W., Han,W., Liao,H.,
            Fu,T., Huang,G., Chen,S. and Lin,T.
  TITLE     Deletion of ACTRT1 is associated with male infertility as sperm
            acrosomal ultrastructural defects and fertilization failure in
            human
  JOURNAL   Hum Reprod 39 (5), 880-891 (2024)
   PUBMED   38414365
  REMARK    GeneRIF: Deletion of ACTRT1 is associated with male infertility as
            sperm acrosomal ultrastructural defects and fertilization failure
            in human.
REFERENCE   2  (bases 1 to 1442)
  AUTHORS   Park,H.S., Papanastasi,E., Blanchard,G., Chiticariu,E.,
            Bachmann,D., Plomann,M., Morice-Picard,F., Vabres,P., Smahi,A.,
            Huber,M., Pich,C. and Hohl,D.
  TITLE     ARP-T1-associated Bazex-Dupre-Christol syndrome is an inherited
            basal cell cancer with ciliary defects characteristic of
            ciliopathies
  JOURNAL   Commun Biol 4 (1), 544 (2021)
   PUBMED   33972689
  REMARK    GeneRIF: ARP-T1-associated Bazex-Dupre-Christol syndrome is an
            inherited basal cell cancer with ciliary defects characteristic of
            ciliopathies.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1442)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   4  (bases 1 to 1442)
  AUTHORS   Bal,E., Park,H.S., Belaid-Choucair,Z., Kayserili,H., Naville,M.,
            Madrange,M., Chiticariu,E., Hadj-Rabia,S., Cagnard,N., Kuonen,F.,
            Bachmann,D., Huber,M., Le Gall,C., Cote,F., Hanein,S., Rosti,R.O.,
            Aslanger,A.D., Waisfisz,Q., Bodemer,C., Hermine,O.,
            Morice-Picard,F., Labeille,B., Caux,F., Mazereeuw-Hautier,J.,
            Philip,N., Levy,N., Taieb,A., Avril,M.F., Headon,D.J., Gyapay,G.,
            Magnaldo,T., Fraitag,S., Crollius,H.R., Vabres,P., Hohl,D.,
            Munnich,A. and Smahi,A.
  TITLE     Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant
            activation of Hedgehog signaling in inherited and sporadic basal
            cell carcinomas
  JOURNAL   Nat Med 23 (10), 1226-1233 (2017)
   PUBMED   28869610
  REMARK    GeneRIF: Study identified mutations in the ACTRT1 gene, which
            encodes actin-related protein T1 (ARP-T1), in two of the six
            families with Bazex-Dupre-Christol syndrome (BDCS) that were
            examined in this study. ARP-T1 was found to directly bind to the
            GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1
            led to activation of the Hedgehog pathway in individuals with BDCS.
            Erratum:[Nat Med. 2025 Feb 6. doi: 10.1038/s41591-025-03531-y..
            PMID: 39915680]
REFERENCE   5  (bases 1 to 1442)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   6  (bases 1 to 1442)
  AUTHORS   Heid,H., Figge,U., Winter,S., Kuhn,C., Zimbelmann,R. and Franke,W.
  TITLE     Novel actin-related proteins Arp-T1 and Arp-T2 as components of the
            cytoskeletal calyx of the mammalian sperm head
  JOURNAL   Exp Cell Res 279 (2), 177-187 (2002)
   PUBMED   12243744
  REMARK    GeneRIF: Describes the discovery of two actin-related proteins as
            major components in a cytoskeletal, nonmotile structure of bull
            spermatozoa, suggesting that certain members of this family of
            proteins may serve functions other than nucleation of actin
            filaments.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB452140.1, BC014597.1 and
            DB510229.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_138289.3.
            
            Summary: This gene encodes a protein related to the cytoskeletal
            protein beta-actin. This protein is a major component of the calyx
            in the perinuclear theca of mammalian sperm heads, and it therefore
            likely functions in spermatid formation. This gene is intronless
            and is similar to a related gene located on chromosome 1. A related
            pseudogene has also been identified approximately 75 kb downstream
            of this gene on chromosome X. [provided by RefSeq, May 2010].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC014597.1, AY251532.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371124.5/ ENSP00000360165.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DB452140.1         1-5
            6-1438              BC014597.1         4-1436
            1439-1439           DB510229.1         420-420
            1440-1442           BC014597.1         1438-1440
FEATURES             Location/Qualifiers
     source          1..1442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     gene            1..1442
                     /gene="ACTRT1"
                     /gene_synonym="AIP1; ARIP1; ARPT1; HSD27"
                     /note="actin related protein T1"
                     /db_xref="GeneID:139741"
                     /db_xref="HGNC:HGNC:24027"
                     /db_xref="MIM:300487"
     exon            1..1442
                     /gene="ACTRT1"
                     /gene_synonym="AIP1; ARIP1; ARPT1; HSD27"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..1328
                     /gene="ACTRT1"
                     /gene_synonym="AIP1; ARIP1; ARPT1; HSD27"
                     /codon_start=1
                     /product="actin-related protein T1"
                     /protein_id="NP_612146.1"
                     /db_xref="CCDS:CCDS14611.1"
                     /db_xref="GeneID:139741"
                     /db_xref="HGNC:HGNC:24027"
                     /db_xref="MIM:300487"
                     /translation="MFNPHALDVPAVIFDNGSGLCKAGLSGEIGPRHVISSVLGHCKF
                     NVPLARLNQKYFVGQEALYKYEALHLHYPIERGLVTGWDDMEKLWKHLFERELGVKPS
                     QQPVLMTEPSLNPREIREKLAEMMFETFSVPGFYLSNHAVAALYASACVTGLVVDSGD
                     GVTCTVPIFEGYSLPHAVTKLCMAGRDITEHLTRLLFASGFNFPCILNKAVVNNIKEK
                     LCYIALEPEKELRKSRGEVLGAYRLPDGHVIHFGDELYQVPEVLFAPDQLGIHSPGLS
                     KMVSSSIMKCDTDIQNKLYADIVLSGGTTLLPGLEERLMKEVEQLASKGTPIKITASP
                     DRCFSAWIGASIMTSMSSFKQMWVTSADFKEYGTSVVQRRCF"
ORIGIN      
        1 agaatggaga taagattcag aggttgagga tggggtgtcc tggtggactg aaggtagcct
       61 actagctgta catgggtgac aacttgaaac ttcagaaccc tgaagtttaa aaaattctaa
      121 aggtgcctgt catctcagag agtgacgtaa gtgttctttc tttatttggg ggaagtccag
      181 gagaacatat tacagacatg tttaatccac atgcattaga tgttcctgct gtaatttttg
      241 acaatggttc aggactctgc aaagcaggcc tgtctggaga gattggaccc cgccatgtca
      301 tcagctccgt cttgggacat tgtaaattca atgtgccttt agcaagactt aatcagaagt
      361 acttcgtggg gcaagaagcc ctgtacaagt atgaggccct acatttgcac taccccattg
      421 agcgtggact ggtaacagga tgggatgaca tggagaaact ctggaaacat ctctttgagc
      481 gggagcttgg agtaaaaccc agccaacagc ctgtacttat gaccgagccc tctttgaatc
      541 ctagggaaat tcgagaaaag ctagcagaaa tgatgtttga gaccttcagt gtgcctggtt
      601 tctacctgtc taatcatgcg gtggcagcgc tctatgcctc tgcctgtgtc acaggcctgg
      661 tggtggacag tggagatggg gtcacttgca ctgtccccat ctttgagggt tactccctgc
      721 ctcacgcagt caccaaactc tgtatggcag ggagggacat cacagagcac ctcacccggc
      781 tcctctttgc tagcgggttt aacttccctt gcatactcaa caaggccgtg gtaaataaca
      841 tcaaagagaa gttgtgctac atcgccttgg agccagagaa agagctacgc aagagccggg
      901 gagaggtcct gggagcatac agactgccag atggacatgt catccacttt ggggatgagc
      961 tgtaccaagt gcccgaggtt ctttttgcac ctgaccagct gggcatccac agcccaggac
     1021 tctcaaaaat ggtctccagc agcatcatga agtgtgacac tgacatccag aataaacttt
     1081 atgcagacat tgtactctcc gggggcacca ctctcctccc tgggctggag gaaaggctca
     1141 tgaaggaagt ggaacagctg gcttccaaag gtactcccat caagatcaca gcttctcctg
     1201 atagatgctt ctctgcatgg attggtgcat ccatcatgac ctctatgagc agtttcaagc
     1261 agatgtgggt cacctcggca gacttcaagg agtatgggac atctgtggtt caaagaaggt
     1321 gcttttaaag atccttgagc agaggagaca tcttgaagtg tcagattaca ggagtaccag
     1381 tgggagatgg cattttcttc tgggcttcag catgatgttc aataaaagtt ttgccatttc
     1441 aa
//
