LOCUS       NM_001672                653 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens agouti signaling protein (ASIP), transcript variant 1,
            mRNA.
ACCESSION   NM_001672
VERSION     NM_001672.3
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  (bases 1 to 653)
  AUTHORS   Kempf,E., Landgraf,K., Stein,R., Hanschkow,M., Hilbert,A., Abou
            Jamra,R., Boczki,P., Herberth,G., Kuhnapfel,A., Tseng,Y.H.,
            Staubert,C., Schoneberg,T., Kuhnen,P., Rayner,N.W., Zeggini,E.,
            Kiess,W., Bluher,M. and Korner,A.
  TITLE     Aberrant expression of agouti signaling protein (ASIP) as a cause
            of monogenic severe childhood obesity
  JOURNAL   Nat Metab 4 (12), 1697-1712 (2022)
   PUBMED   36536132
  REMARK    GeneRIF: Aberrant expression of agouti signaling protein (ASIP) as
            a cause of monogenic severe childhood obesity.
REFERENCE   2  (bases 1 to 653)
  AUTHORS   Wang,Y. and Tatakis,D.N.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: ASIP expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   3  (bases 1 to 653)
  AUTHORS   Lima,F.A., Goncalves,F.T. and Fridman,C.
  TITLE     SLC24A5 and ASIP as phenotypic predictors in Brazilian population
            for forensic purposes
  JOURNAL   Leg Med (Tokyo) 17 (4), 261-266 (2015)
   PUBMED   25801600
  REMARK    GeneRIF: Polymorphisms of ASIP were found to be associated with
            skin, hair, and eye color in a phenotypically diverse Brazilian
            population.  More research is needed to determine its usefulness in
            forensic science.
            Erratum:[Leg Med (Tokyo). 2016 Mar;19:127. de Araujo Lima, F
            [corrected to Lima, F A]; de Toledo Goncalves, F [corrected to
            Goncalves, F T]; Fridman, Cintia [corrected to Fridman, C]]
REFERENCE   4  (bases 1 to 653)
  AUTHORS   Jacobs,L.C., Hamer,M.A., Gunn,D.A., Deelen,J., Lall,J.S., van
            Heemst,D., Uh,H.W., Hofman,A., Uitterlinden,A.G., Griffiths,C.E.M.,
            Beekman,M., Slagboom,P.E., Kayser,M., Liu,F. and Nijsten,T.
  TITLE     A Genome-Wide Association Study Identifies the Skin Color Genes
            IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots
  JOURNAL   J Invest Dermatol 135 (7), 1735-1742 (2015)
   PUBMED   25705849
  REMARK    GeneRIF: ASIP gene mutation is involved in the development of
            facial pigmented lesions.
REFERENCE   5  (bases 1 to 653)
  AUTHORS   Taylor,N.J., Reiner,A.S., Begg,C.B., Cust,A.E., Busam,K.J.,
            Anton-Culver,H., Dwyer,T., From,L., Gallagher,R.P., Gruber,S.B.,
            Rosso,S., White,K.A., Zanetti,R., Orlow,I., Thomas,N.E.,
            Rebbeck,T.R., Berwick,M. and Kanetsky,P.A.
  CONSRTM   GEM Study Group
  TITLE     Inherited variation at MC1R and ASIP and association with
            melanoma-specific survival
  JOURNAL   Int J Cancer 136 (11), 2659-2667 (2015)
   PUBMED   25382380
  REMARK    GeneRIF: Data show that ASIP TG/TG diplotype, which is known to be
            associated with melanoma risk, was linked to a 5-fold increase in
            hazard of death from melanoma.
REFERENCE   6  (bases 1 to 653)
  AUTHORS   Ebnet,K., Suzuki,A., Horikoshi,Y., Hirose,T., Meyer Zu
            Brickwedde,M.K., Ohno,S. and Vestweber,D.
  TITLE     The cell polarity protein ASIP/PAR-3 directly associates with
            junctional adhesion molecule (JAM)
  JOURNAL   EMBO J 20 (14), 3738-3748 (2001)
   PUBMED   11447115
REFERENCE   7  (bases 1 to 653)
  AUTHORS   Xue,B., Moustaid-N, Wilkison,W.O. and Zemel,M.B.
  TITLE     The agouti gene product inhibits lipolysis in human adipocytes via
            a Ca2+-dependent mechanism
  JOURNAL   FASEB J 12 (13), 1391-1396 (1998)
   PUBMED   9761782
REFERENCE   8  (bases 1 to 653)
  AUTHORS   Yang,Y.K., Ollmann,M.M., Wilson,B.D., Dickinson,C., Yamada,T.,
            Barsh,G.S. and Gantz,I.
  TITLE     Effects of recombinant agouti-signaling protein on melanocortin
            action
  JOURNAL   Mol Endocrinol 11 (3), 274-280 (1997)
   PUBMED   9058374
REFERENCE   9  (bases 1 to 653)
  AUTHORS   Wilson,B.D., Ollmann,M.M., Kang,L., Stoffel,M., Bell,G.I. and
            Barsh,G.S.
  TITLE     Structure and function of ASP, the human homolog of the mouse
            agouti gene
  JOURNAL   Hum Mol Genet 4 (2), 223-230 (1995)
   PUBMED   7757071
REFERENCE   10 (bases 1 to 653)
  AUTHORS   Kwon,H.Y., Bultman,S.J., Loffler,C., Chen,W.J., Furdon,P.J.,
            Powell,J.G., Usala,A.L., Wilkison,W., Hansmann,I. and Woychik,R.P.
  TITLE     Molecular structure and chromosomal mapping of the human homolog of
            the agouti gene
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9760-9764 (1994)
   PUBMED   7937887
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035458.35.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 10, 2020 this sequence version replaced NM_001672.2.
            
            Summary: In mice, the agouti gene encodes a paracrine signaling
            molecule that causes hair follicle melanocytes to synthesize
            pheomelanin, a yellow pigment, instead of the black or brown
            pigment, eumelanin. Pleiotropic effects of constitutive expression
            of the mouse gene include adult-onset obesity, increased tumor
            susceptibility, and premature infertility. This gene is highly
            similar to the mouse gene and encodes a secreted protein that may
            (1) affect the quality of hair pigmentation, (2) act as a
            pharmacological antagonist of alpha-melanocyte-stimulating hormone,
            (3) play a role in neuroendocrine aspects of melanocortin action,
            and (4) have a functional role in regulating lipid metabolism in
            adipocytes. [provided by RefSeq, Jul 2008].
            
            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##
            CDS exon combination :: BC104239.2, AI378919.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000374954.4/
                                                ENSP00000364092.3
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AL035458.35        85931-85997
            68-237              AL035458.35        104873-105042
            238-299             AL035458.35        107340-107401
            300-653             AL035458.35        113499-113852
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..653
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /note="agouti signaling protein"
                     /db_xref="GeneID:434"
                     /db_xref="HGNC:HGNC:745"
                     /db_xref="MIM:600201"
     exon            1..67
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /inference="alignment:Splign:2.1.0"
     exon            68..237
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..476
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /note="nonagouti homolog; agouti switch protein; agouti
                     signaling protein, nonagouti homolog"
                     /codon_start=1
                     /product="agouti-signaling protein precursor"
                     /protein_id="NP_001663.2"
                     /db_xref="CCDS:CCDS13232.1"
                     /db_xref="GeneID:434"
                     /db_xref="HGNC:HGNC:745"
                     /db_xref="MIM:600201"
                     /translation="MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNL
                     LDVPSVSIVALNKKSKQIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKP
                     PAPACCDPCASCQCRFFRSACSCRVLSLNC"
     exon            238..299
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /inference="alignment:Splign:2.1.0"
     exon            300..653
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      632..637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /note="hexamer: AATACA"
     polyA_site      653
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /note="major polyA site"
ORIGIN      
        1 agcaaatctc tacagctgca aggtgaaaaa ggaagttcct tggcctgggc tctttgcggg
       61 aaagcatgcc tcctgggatg gatgtcaccc gcttactcct ggccaccctg ctggtcttcc
      121 tctgcttctt cactgccaac agccacctgc cacctgagga gaagctccga gatgacagga
      181 gcctgagaag caactcctct gtgaacctac tggatgtccc ttctgtctct attgtggcgc
      241 tgaacaagaa atccaaacag atcggcagaa aagcagcaga aaagaaaaga tcttctaaga
      301 aggaggcttc gatgaagaaa gtggtgcggc cccggacccc cctatctgcg ccctgcgtgg
      361 ccacccgcaa cagctgcaag ccgccggcac ccgcctgctg cgacccgtgc gcctcctgcc
      421 agtgccgctt cttccgcagc gcctgctcct gccgcgtgct cagcctcaac tgctgagcgc
      481 ccccactccc ggccgcgagc aggcagggct tcggggacgc ggggcgcttc tcgggcgggt
      541 gatccctaac agggcggctt cccagggctg caggcgggcg gaggttccag gagatgggac
      601 ttcagggaga cctggcttgg gctaaaatcg aaatacaata tatataggct gct
//
