LOCUS       NM_001007523            1707 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens coagulation factor VIII associated 2 (F8A2), mRNA.
ACCESSION   NM_001007523
VERSION     NM_001007523.2
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   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   2  (bases 1 to 1707)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Guo,Q., Bin,Huang., Cheng,J., Seefelder,M., Engler,T., Pfeifer,G.,
            Oeckl,P., Otto,M., Moser,F., Maurer,M., Pautsch,A., Baumeister,W.,
            Fernandez-Busnadiego,R. and Kochanek,S.
  TITLE     The cryo-electron microscopy structure of huntingtin
  JOURNAL   Nature 555 (7694), 117-120 (2018)
   PUBMED   29466333
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Huang,Z.N. and Her,L.S.
  TITLE     The Ubiquitin Receptor ADRM1 Modulates HAP40-Induced Proteasome
            Activity
  JOURNAL   Mol Neurobiol 54 (9), 7382-7400 (2017)
   PUBMED   27815841
REFERENCE   5  (bases 1 to 1707)
  AUTHORS   Monaghan,M., Wakabayashi,H., Griffiths,A., Wintermute,J. and
            Fay,P.J.
  TITLE     Enhanced factor VIIIa stability of A2 domain interface variants
            results from an increased apparent affinity for the A2 subunit.
            Results from an increased apparent affinity for the A2 subunit
  JOURNAL   Thromb Haemost 112 (3), 495-502 (2014)
   PUBMED   24899227
  REMARK    GeneRIF: Thus these hydrophobic mutations at the A2 subunit
            interfaces result in high binding affinities for the A2 subunit and
            correlate well with previously observed reductions in rates in
            FVIIIa decay.
REFERENCE   6  (bases 1 to 1707)
  AUTHORS   Pal,A., Severin,F., Lommer,B., Shevchenko,A. and Zerial,M.
  TITLE     Huntingtin-HAP40 complex is a novel Rab5 effector that regulates
            early endosome motility and is up-regulated in Huntington's disease
  JOURNAL   J Cell Biol 172 (4), 605-618 (2006)
   PUBMED   16476778
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Bagnall,R.D., Ayres,K.L., Green,P.M. and Giannelli,F.
  TITLE     Gene conversion and evolution of Xq28 duplicons involved in
            recurring inversions causing severe hemophilia A
  JOURNAL   Genome Res 15 (2), 214-223 (2005)
   PUBMED   15687285
REFERENCE   8  (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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC234781.7.
            
            On Sep 29, 2020 this sequence version replaced NM_001007523.1.
            
            Summary: This gene is part of a region that is repeated three times
            on chromosome X, once in intron 22 of the F8 gene and twice closer
            to the Xq telomere. This record represents the middle copy.
            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.
            
            ##Evidence-Data-START##
            Transcript is intronless :: ERR3218377.104509.1, DRR138513.364605.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369505.5/ ENSP00000358518.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1707              AC234781.7         51716-53422         c
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1707
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="coagulation factor VIII associated 2"
                     /db_xref="GeneID:474383"
                     /db_xref="HGNC:HGNC:31849"
     exon            1..1707
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1136
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="coagulation factor VIII-associated (intronic
                     transcript) 2; factor VIII intron 22 protein; cpG island
                     protein"
                     /codon_start=1
                     /product="40-kDa huntingtin-associated protein"
                     /protein_id="NP_001007524.1"
                     /db_xref="CCDS:CCDS35462.1"
                     /db_xref="GeneID:474383"
                     /db_xref="HGNC:HGNC:31849"
                     /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 aggccgggac 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 acccaacgca 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
//
