LOCUS       NM_012151               1707 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens coagulation factor VIII associated 1 (F8A1), mRNA.
ACCESSION   NM_012151
VERSION     NM_012151.4
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 1707)
  AUTHORS   Xu,S., Li,G., Ye,X., Chen,D., Chen,Z., Xu,Z., Daniele,M.,
            Tambone,S., Ceccacci,A., Tomei,L., Ye,L., Yu,Y., Solbach,A.,
            Farmer,S.M., Stimming,E.F., McAllister,G., Marchionini,D.M. and
            Zhang,S.
  TITLE     HAP40 is a conserved central regulator of Huntingtin and a
            potential modulator of Huntington's disease pathogenesis
  JOURNAL   PLoS Genet 18 (7), e1010302 (2022)
   PUBMED   35853002
  REMARK    GeneRIF: HAP40 is a conserved central regulator of Huntingtin and a
            potential modulator of Huntington's disease pathogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1707)
  AUTHORS   Seefelder,M., Klein,F.A.C., Landwehrmeyer,B.,
            Fernandez-Busnadiego,R. and Kochanek,S.
  TITLE     Huntingtin and Its Partner Huntingtin-Associated Protein 40:
            Structural and Functional Considerations in Health and Disease
  JOURNAL   J Huntingtons Dis 11 (3), 227-242 (2022)
   PUBMED   35871360
  REMARK    GeneRIF: Huntingtin and Its Partner Huntingtin-Associated Protein
            40: Structural and Functional Considerations in Health and Disease.
            Review article
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Huang,B., Seefelder,M., Buck,E., Engler,T., Lindenberg,K.S.,
            Klein,F., Landwehrmeyer,G.B. and Kochanek,S.
  TITLE     HAP40 protein levels are huntingtin-dependent and decrease in
            Huntington disease
  JOURNAL   Neurobiol Dis 158, 105476 (2021)
   PUBMED   34390835
  REMARK    GeneRIF: HAP40 protein levels are huntingtin-dependent and decrease
            in Huntington disease.
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Huang,B., Guo,Q., Niedermeier,M.L., Cheng,J., Engler,T., Maurer,M.,
            Pautsch,A., Baumeister,W., Stengel,F., Kochanek,S. and
            Fernandez-Busnadiego,R.
  TITLE     Pathological polyQ expansion does not alter the conformation of the
            Huntingtin-HAP40 complex
  JOURNAL   Structure 29 (8), 804-809 (2021)
   PUBMED   33909994
  REMARK    GeneRIF: Pathological polyQ expansion does not alter the
            conformation of the Huntingtin-HAP40 complex.
REFERENCE   5  (bases 1 to 1707)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1707)
  AUTHORS   Peters,M.F. and Ross,C.A.
  TITLE     Isolation of a 40-kDa Huntingtin-associated protein
  JOURNAL   J Biol Chem 276 (5), 3188-3194 (2001)
   PUBMED   11035034
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Naylor,J.A., Buck,D., Green,P., Williamson,H., Bentley,D. and
            Giannelli,F.
  TITLE     Investigation of the factor VIII intron 22 repeated region (int22h)
            and the associated inversion junctions
  JOURNAL   Hum Mol Genet 4 (7), 1217-1224 (1995)
   PUBMED   8528212
REFERENCE   8  (bases 1 to 1707)
  AUTHORS   Levinson,B., Kenwrick,S., Gamel,P., Fisher,K. and Gitschier,J.
  TITLE     Evidence for a third transcript from the human factor VIII gene
  JOURNAL   Genomics 14 (3), 585-589 (1992)
   PUBMED   1427887
REFERENCE   9  (bases 1 to 1707)
  AUTHORS   Levinson,B., Bermingham,J.R. Jr., Metzenberg,A., Kenwrick,S.,
            Chapman,V. and Gitschier,J.
  TITLE     Sequence of the human factor VIII-associated gene is conserved in
            mouse
  JOURNAL   Genomics 13 (3), 862-865 (1992)
   PUBMED   1639415
REFERENCE   10 (bases 1 to 1707)
  AUTHORS   Levinson,B., Kenwrick,S., Lakich,D., Hammonds,G. Jr. and
            Gitschier,J.
  TITLE     A transcribed gene in an intron of the human factor VIII gene
  JOURNAL   Genomics 7 (1), 1-11 (1990)
   PUBMED   2110545
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX842559.3.
            
            On Sep 18, 2020 this sequence version replaced NM_012151.3.
            
            Summary: This gene is contained entirely within intron 22 of the
            factor VIII gene; spans less than 2 kb, and is transcribed in the
            direction opposite of factor VIII. A portion of intron 22 (int22h),
            containing F8A, is repeated twice extragenically closer to the Xq
            telomere. Although its function is unknown, the observation that
            this gene is conserved in the mouse implies it has some function.
            Unlike factor VIII, this gene is transcribed abundantly in a wide
            variety of cell types. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 is intronless :: BC039693.1, SRR1163658.449924.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610495.2/ ENSP00000479624.1
            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
            1-1707              BX842559.3         23839-25545
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1707
                     /gene="F8A1"
                     /gene_synonym="DXS522E; F8A; HAP40"
                     /note="coagulation factor VIII associated 1"
                     /db_xref="GeneID:8263"
                     /db_xref="HGNC:HGNC:3547"
                     /db_xref="MIM:305423"
     exon            1..1707
                     /gene="F8A1"
                     /gene_synonym="DXS522E; F8A; HAP40"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1136
                     /gene="F8A1"
                     /gene_synonym="DXS522E; F8A; HAP40"
                     /note="factor VIII intron 22 protein; coagulation factor
                     VIII-associated (intronic transcript) 1; factor VIII
                     associated protein; huntingtin-associated protein 40; cpG
                     island protein"
                     /codon_start=1
                     /product="40-kDa huntingtin-associated protein"
                     /protein_id="NP_036283.2"
                     /db_xref="CCDS:CCDS35459.1"
                     /db_xref="GeneID:8263"
                     /db_xref="HGNC:HGNC:3547"
                     /db_xref="MIM:305423"
                     /translation="MAAAAAGLGGGGAGPGPEAGDFLARYRLVSNKLKKRFLRKPNVA
                     EAGEQFGQLGRELRAQECLPYAAWCQLAVARCQQALFHGPGEALALTEAARLFLRQER
                     DARQRLVCPAAYGEPLQAAASALGAAVRLHLELGQPAAAAALCLELAAALRDLGQPAA
                     AAGHFQRAAQLQLPQLPLAALQALGEAASCQLLARDYTGALAVFTRMQRLAREHGSHP
                     VQSLPPPPPPAPQPGPGATPALPAALLPPNSGSAAPSPAALGAFSDVLVRCEVSRVLL
                     LLLLQPPPAKLLPEHAQTLEKYSWEAFDSHGQESSGQLPEELFLLLQSLVMATHEKDT
                     EAIKSLQVEMWPLLTAEQNHLLHLVLQETISPSGQGV"
ORIGIN      
        1 aagtgcttgg ggcggcgagc atggcggcag cggctgcagg cctgggcggc ggcggcgccg
       61 gcccgggacc cgaggccggg gacttcctgg cccgctaccg gctggtatcg aacaagctga
      121 agaagcggtt cctgcggaag ccgaacgtgg cggaggccgg cgagcagttc ggacagctgg
      181 gccgggagct gcgcgcccag gagtgtctgc cctacgcggc ctggtgccag ctggcggtgg
      241 cgcgctgcca gcaggcgctc ttccacgggc ccggggaggc gctggccctc accgaggccg
      301 cccgcctctt cctgcggcag gagcgcgacg cgcgccagcg cctggtctgc cccgccgcct
      361 acggggagcc gctgcaggcc gccgccagcg ccctgggcgc cgcggtgcgt ctgcacctcg
      421 agctgggcca gccggccgcc gccgccgccc tctgcctcga gctggccgcc gccctgcgcg
      481 acctgggcca gccggccgcc gccgccggtc acttccagcg cgccgcccag ctccagctgc
      541 cccagctgcc cctggccgcg ctgcaggcgc ttggcgaggc cgcctcctgc cagctgctgg
      601 cgcgcgacta caccggcgcc ctggcggtct tcacgcgcat gcagcgcctg gcgcgggagc
      661 acggcagcca cccggtgcag tcactgccgc cgcccccgcc gccggcaccc cagcccgggc
      721 ccggggcgac gcccgcccta ccggccgcgc tgcttcctcc gaactccggc tcggcggcgc
      781 cctctcccgc cgccctgggc gccttctcgg acgtgctggt ccgctgcgag gtgtcccgcg
      841 tgctgctgct gctcctcctg caaccaccgc ccgccaagct gctgccggag cacgcccaga
      901 ccctggagaa gtactcctgg gaggcttttg acagccacgg gcaggagagc agcggccagc
      961 ttcccgagga gctctttctg ctgctccagt ctttggtcat ggctacccac gaaaaggaca
     1021 cggaagccat caagtcgctg caggtggaga tgtggccact gttgactgct gagcagaacc
     1081 acctccttca cctcgttctg caagaaacca tctccccctc aggacaggga gtctgatcca
     1141 tcccattcac ccagtgactt ctttttgccc aggcctggac tttttgcatc agtcacgtta
     1201 accagatgac tttgcctgtt accaaacctc atgcatccac gtttgcgtct ggggaggaat
     1261 aaaaagacat cgttcccgct tctgcgtttt gttattccta ctgccgccat aggaattatt
     1321 tcgttggctg aacgttacca gcaccccgag aacacatttt gatagaatca gagtagagga
     1381 catggctgtc ttctaaaaag ccacgacatg aaaatgacaa tccctttcgt ctccttcctc
     1441 cgctgcttcc acctaacgca gcctcctgcc tccgcctttg tttcatagtg aggattttat
     1501 tttgcacggc gccctccctc taaataccta ccctagatga tttcatcctg cccctcactt
     1561 cttaacatat tcctgtgtct ttgtaatggc caaatttctc cttccactcg tccgcacggt
     1621 acgtcttcat gggagtcatt ttattcctta cagcttcctt gtaaccacag ccctaaatcc
     1681 atgataaagc tactcttgta ctcctca
//
